Dr. Miocinovic discusses how device-based therapies like deep brain stimulation are leading to more effective, personalized care for people with movement disorders like Parkinson’s, tremor, and dystonia.

 

At the American Brain Foundation, our commitment to the philosophy of Cure One, Cure Many drives our efforts to support researchers working in many different research areas. Research is the only way we will find better treatments, diagnosis methods, and cures for the brain diseases and disorders impacting millions of people worldwide. Our Next Generation Research Grants are offered in partnership with the American Academy of Neurology in order to fund early-career researchers pursuing innovative research projects across the whole spectrum of brain diseases and disorders. 

Svjetlana Miocinovic, MD, PhD, was awarded a research grant funded by the American Brain Foundation in 2014 and has gone on to receive grants from the Dystonia Medical Research Foundation and the National Institutes of Health. Dr. Miocinovic is currently an Associate Professor in the Department of Neurology at Emory University School of Medicine. She is the principal Investigator at the Miocinovic Lab and specializes in Parkinson’s disease, dystonia, tremor and other movement disorders at Emory Healthcare. 

Her research focuses on how electrical signals in the brain affect motor function in people with movement disorders like Parkinson’s disease and dystonia. We spoke with Dr. Miocinovic about how her American Brain Foundation-funded research established a foundation for her current work with the Miocinovic Lab and the role of computers and artificial intelligence in recent advancements in device-based therapies like deep brain stimulation.

The following interview has been condensed and edited for clarity.

Why were you inspired to study the brain?

I became interested in neuroscience in college. The brain is the most fascinating and complicated organ in our body. It is the final frontier when it comes to understanding our bodies and ourselves as humans. So that eventually got me interested in pursuing neurology.  

What specific issue is your research trying to address?

I study movement disorders such as Parkinson’s disease and dystonia. These disorders arise from miscommunication between brain areas responsible for motor function. Deep brain stimulation (DBS) is a surgical treatment that we use to treat movement disorders when medications are not effective. DBS is a brain pacemaker. It injects small amounts of electrical current into the brain to correct miscommunication between the brain cells, which also communicate with each other by sending tiny electrical signals back and forth, similar to a telephone cable.

My research is focused on understanding how DBS works and how to make it better. Right now, after DBS surgery, patients have to spend many months getting the stimulator adjusted using a trial and error approach. Our goal is to make smart stimulators that can self-adjust using patients’ own brain waves. That way a person can get more stimulation when they need it, and less when they don’t (for example, when sleeping or not moving). This should also reduce unwanted side effects that can be caused by stimulation. 

We are also working on developing computer-assisted DBS programming. There are many possible stimulation settings, and artificial intelligence can help improve this selection process. Finally, we are undertaking in-depth studies to learn which specific brain areas need more attention when it comes to treating movement disorders. We use high-resolution recording electrodes during DBS surgery to listen to how brain cells communicate with each other in people with Parkinson’s disease and other conditions.

What did your American Brain Foundation-funded Next Generation Research Grant enable you to work on?

I was awarded a research grant in 2014 just as I was finishing my clinical training to become a movement disorders neurologist. Prior to that I completed graduate school where my research focused on computer models and animal studies. The fellowship funding allowed me to spend two years in a clinical lab learning how to study these disorders in humans and use methods that would be directly applicable to my patients. Specifically, I recorded brain wave activity from people with Parkinson’s disease and dystonia to discover how DBS can correct underlying abnormalities.

What kinds of insights or discoveries did this research lead to? What additional or current research did it enable?

The research I did during my American Brain Foundation fellowship made me realize how we can use brain recordings to figure out which specific brain pathways are being activated by DBS. Up until then, these types of in-depth studies were mainly done in animals, but now we have a way to address these questions directly in patients. This led to my current research projects to improve DBS.

How did this early American Brain Foundation-supported research open doors for additional research funding or future research projects?

The fellowship made it possible to receive a coveted NIH career-development grant. This allowed me to start my own lab and pursue ideas I developed during the fellowship. After that I received a couple of other big NIH grants. This expanded the scope of the projects I could undertake. I was able to hire several researchers to work full time on my projects and answer these important questions. 

How would discovering treatments or a cure for one brain disease impact other diseases?

Most of what we learn about DBS for movement disorders will be applicable to many other neurologic and psychiatric disorders where brain circuits miscommunicate. DBS has been studied as a treatment for depression, OCD, Alzheimer’s, and many other conditions. In all these conditions, we also need to better understand how the effects of stimulation spread through the brain and how to select the best stimulation settings for individual patients.   

What do you hope your research will do to help patients and their families?

I hope that my research will make DBS accessible to a larger number of patients who could benefit from this therapy. Many people live far away from specialized DBS centers and are unable to come to frequent clinic appointments to adjust the stimulator. We also do not have enough neurologists who can perform this type of work because of its complexity. I hope that one day brain pacemakers will be as common and as simple to use as cardiac pacemakers.

How far has research come since you began your career, and what are the most exciting discoveries and developments you’ve seen since you entered the field?

When I started medical school, DBS was still considered an experimental treatment for Parkinson’s disease. Now it is a standard-of-care therapy for Parkinson’s, tremor, and dystonia, and it has been tried in dozens of other neuropsychiatric conditions. 

Computers have also become more powerful and “intelligent,” and we can use them to answer many questions in neuroscience. We have much better ways of estimating the spread of stimulation effects in the brain using very sophisticated computer calculations. We have learned a lot about how neurons communicate with each other and how this goes awry in movement disorders, but there is still so much more we do not understand.

You can learn more about deep brain stimulation for movement disorders like Parkinson’s disease through our recent webinar and by following the research Dr. Miocinovic and her team are pursuing at the Miocinovic Lab.

The American Brain Foundation is committed to supporting the next generation of brain disease researchers. By donating today you can help us achieve our vision of life without brain disease.

Learn what Dr. John Leddy says about the importance of getting a prompt diagnosis for a concussion, as well as how to reduce the severity of symptoms and the risk of serious long-term injury.

Between 1.6 and 3.8 million people report experiencing a concussion every year, with as many as 50% of cases going undetected. While concussions may seem relatively common, especially among athletes in high-contact sports, there can be serious long-term consequences of not seeking proper treatment. About one in five people who experience a concussion have prolonged symptoms, which are defined as symptoms that continue more than a month after the initial injury. This is often because they do not receive appropriate post-concussion care. 

We spoke with John Leddy MD, FACSM, FACP, FAMSSM, about the importance of proper post-concussion treatment, including what can be done after a concussion to decrease the severity of symptoms, promote quick recovery, and reduce the risk of serious long-term effects.

Dr. Leddy is a professor of clinical orthopedics, internal medicine, and rehabilitation sciences at the University of Buffalo School of Medicine. He is currently the medical director of the University of Buffalo Concussion Management Clinic.

What to Do After a Concussion

If you or someone you know experiences a concussion, the first week is critical for promoting recovery and reducing the risk of long-term symptoms. Here are Dr. Leddy’s key steps to preventing long-term brain trauma after a concussion:

1. Get evaluated by a doctor as soon as possible.

The most important thing to do if you or someone you know has suffered a head injury is to see a doctor immediately. The amount of time it takes to get a medical evaluation can be one of the biggest factors in the recovery process if you do in fact have a concussion. 

Dr. Leddy notes that “the faster somebody gets in [to see] a physician or provider who knows what they’re doing with concussion, the faster they recover.”

2. Scale back activity for the first 48 hours.

For the first 48 hours after a concussion, Dr. Leddy recommends skipping intense exercise and sports, as well as minimizing screen time as much as possible. After the first two days, ease into activity and immediately stop anything that causes symptoms to significantly increase.

Dr. Leddy says to avoid any activity that causes your symptoms to increase beyond a “mild” level. How do you tell if you’re experiencing more than a mild increase in symptoms? Dr. Leddy says that if, “on a 0-10 scale, [you experience] an increase of two or more points during the activity” compared to how you felt before beginning the activity, then you should stop and take a break. 

3. Find your exercise “sweet spot.”

Data shows that while you don’t want to overdo it, maintaining some healthy level of activity in the first week after a concussion is especially important for the healing process. This is another reason it’s important to monitor any increases in your symptoms during physical activity. Dr. Leddy notes that by doing so, you can find your activity “threshold”—the point up to which exercise is beneficial following a concussion. 

“The more that [a person] can exercise at that subthreshold level… [the faster] they tend to recover,” Dr. Leddy says. Work to find the right level of activity and be sure to hit that “sweet spot” throughout the first week.

4. Take regular breaks, especially if symptoms increase.

Just as you need to give your body time to resume physical activity, you’ll also need to ease your brain into mental activity. This is especially important for students and people with stressful jobs. During mental tasks, Dr. Leddy recommends taking scheduled breaks—such as every 15 to 20 minutes—and stopping if symptoms increase by more than two points on a 0-10 scale.

5. Rehabilitate concussion-related injuries and issues.

“We’ve learned that many concussions are accompanied by neck injuries,” says Dr. Leddy. “[This] shouldn’t be surprising, but it wasn’t realized until maybe a decade ago.” To help promote recovery after a concussion, you may need to receive care for related symptoms, including physical therapy for neck pain or vestibular therapy for balance problems.

Can Activity Help Minimize the Long-Term Effects of a Concussion?

In the past, individuals with a concussion were often told to rest in quiet, dark rooms. “It was sort of considered [forbidden] to have somebody do too much mental or physical activity soon after a concussion, because it typically reliably increases someone’s symptoms,” Dr. Leddy explains. “It was thought that… if you increased the symptoms even a little bit, you were harming the brain and delaying recovery.”

However, while working in sports medicine Dr. Leddy began to think about how doctors could more actively treat athletes who had experienced a concussion. He wondered if there was a way to maintain physical activity while experiencing a healthy, mild level of symptoms rather than restricting all activity and waiting for symptoms to go away. 

Dr. Leddy and his team modeled their approach on rehabilitation strategies for people who have recently had a heart attack. “If you take the principles of somebody who has heart disease, for example, and you want to rehabilitate that person from having heart disease or a heart attack, what do you do? You have a cardiac treadmill test—you have a stress test,” says Dr. Leddy. 

This type of treadmill test inspired Dr. Leddy’s Buffalo Concussion Treadmill Test (BCTT). The Buffalo Treadmill Test has become the standard of care for treating concussions among experts in the field, including primary care physicians and those involved in evaluating and managing athletes who experience a concussion.

“We started measuring blood pressure and pulse on the treadmill, and we came up with a way to assess how much [concussion] symptoms went up during exercise—and predictably, they did,” he says. When symptoms increased, the research team recorded the participant’s heart rate. They then instructed the person to exercise at 80% of that intensity—using this recorded heart rate as a guide—for 15 to 20 minutes a day, stopping if their symptoms went up more than mildly.

Dr. Leddy and his research partners tested this approach on people who experienced prolonged symptoms, including college-age athletes and older adults who had been injured at work, and found that it helped them recover from a concussion more quickly.

How Exercise Affects the Brain After a Concussion

How does this work? A mild traumatic brain injury or concussion disturbs the autonomic nervous system, which controls a person’s ability to breathe and pump blood throughout the body and brain. The autonomic nervous system adjusts a person’s body functions in response to environmental demands, such as exercise. Typically with increased activity, the brain is able to regulate blood flow, but after a concussion, this control of blood flow to the brain is poorly regulated, especially during exercise.

“Exercise—aerobic exercise specifically—treats the whole autonomic nervous system,” says Dr. Leddy. “We call it ‘exercise as medicine’ for concussion.” In his research studies, adolescent athletes who started an exercise protocol within days of a concussion recovered faster and had a 50% reduction in prolonged symptoms compared to those who were assigned a stretching program.

In recent years, the medical field, sports professionals, media, and the general public have paid more attention to the topic of concussions. Research is still uncovering information about diagnosis and treatment, and it will take time for new learnings to be implemented in clinical practice, at training facilities, and during sporting events. The American Brain Foundation will continue to support ongoing brain disease research and share important findings from experts in the field.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. Only through research will we find cures for all brain diseases and disorders. Donate today to make a difference.

A newly approved drug called lecanemab is offering hope for people affected by Alzheimer’s disease. But what is lecanemab, and how does it slow the progression of dementia?

There are around 6.5 million people in the U.S. living with Alzheimer’s disease, and that number is increasing every year. Alzheimer’s disease is the most common form of dementia in older adults and the seventh leading cause of death in the U.S. Prior treatments have failed to slow the progression of the disease, leaving people and their families few options following a diagnosis. 

However, there are new reasons to be cautiously hopeful about treatment: The U.S. Food and Drug Administration (FDA) recently granted accelerated approval to the drug lecanemab. Currently being used for people in the early stages of Alzheimer’s disease, lecanemab appears to actually slow the progression of cognitive decline. 

While this is an exciting development for people living with Alzheimer’s and their families, it’s important to note that the drug is still being evaluated. This means that doctors can currently prescribe lecanemab, but the FDA has not finished fully evaluating its effectiveness and potential side effects. 

Additionally, lecanemab has been shown to cause certain adverse side effects in some people, so it’s not the best option for everyone. Below we answer some pressing questions about this promising new drug and explain what it means to be granted accelerated approval from the FDA.

What Is Lecanemab?

Marketed under the name Leqembi, lecanemab targets the progression of Alzheimer’s disease rather than simply alleviating some of its symptoms. It was granted accelerated approval by the FDA after the results of an 18-month Phase 3 trial were published in the New England Journal of Medicine in November 2022. The Phase 3 trial found that lecanemab reduced cognitive decline by 27%—a promising result for people in the early stages of Alzheimer’s disease.

How Does Lecanemab Work?

Lecanemab is a monoclonal antibody. These types of drugs work by introducing lab-made molecules into the bloodstream to act as substitutes for the body’s natural antibodies and immune cells that aren’t functioning properly.

In this case, lecanemab binds to amyloid beta proteins—the main component of the amyloid plaques (clumps of misfolded proteins) found in the brains of people with Alzheimer’s. These amyloid plaques eventually damage the brain, resulting in cognitive decline and dementia. By binding to amyloid beta proteins, lecanemab reduces the formation of these amyloid plaques, in turn potentially reducing some of the brain damage that causes Alzheimer’s symptoms.

What Does It Mean That Lecanemab Received Accelerated FDA Approval?

The FDA’s Accelerated Approval Program allows for faster approval of drugs designed to treat serious conditions where there is currently a lack of effective treatments available. The drug must be shown to clearly affect a specific marker or measurement of a disease—such as the reduction of amyloid plaques in the brain—that is likely to result in successful treatment outcomes. This is different from the usual requirement for approved drugs to show that they definitely result in a measurable change in symptoms.

Once accelerated approval is granted, drug companies must still conduct studies to confirm the expected benefit of the medication—in this case, slowing the progression of cognitive decline in people with Alzheimer’s disease. If clinical trials confirm that the drug performs as expected, then the FDA grants traditional approval. If not, its accelerated approval may be revoked and the drug can be removed from the market.

The accelerated approval of drugs can be life-changing for people with previously untreatable and incurable diseases like Alzheimer’s. Earlier approval gives more people access to treatments that may significantly affect their symptoms and quality of life.

Potential Risks and Serious Side Effects

It’s important to note that drugs in the accelerated approval stage can have risks and side effects that have yet to be fully studied or understood. Not all people with Alzheimer’s will be good candidates for lecanemab.

Lecanemab’s Phase 3 trial revealed adverse side effects for 14% of those who took the drug, compared to 11.3% in the placebo group. The most commonly reported serious side effects were nausea, vomiting, and changes in blood pressure, as well as amyloid-related imaging abnormalities (ARIA) shown on MRI scans. 

ARIA usually presents as brain swelling, sometimes accompanied by bleeding in the brain or on the brain’s surface. Some people experience dizziness, confusion, nausea, headache, seizures, and vision changes, though there are not always obvious symptoms. ARIA can occasionally cause hospitalization or lasting impairment. There have been three deaths linked to lecanemab’s extended trials, with the FDA continuing to evaluate the potential for serious side effects.

Next Steps in Alzheimer’s Treatment

The price of lecanemab is another concern. It currently costs $26,500 per year, and there is no guarantee that insurance companies will cover it. The Center for Medicare and Medicaid Services is currently reviewing lecanemab in light of its accelerated approval, but says that for now it will be covered only for people enrolled in registered clinical trials.

Despite the potential drawbacks, lecanemab’s accelerated approval is still an exciting development for people with Alzheimer’s disease. While it’s not a cure, lecanemab may be able to positively impact the lives of people in the early stages of the disease.

“These peer-reviewed, published results show lecanemab will provide patients more time to participate in daily life and live independently,” says the Alzheimer’s Association. “It could mean many months more of recognizing their spouse, children, and grandchildren.”

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Learn more about brain disease or make a gift to support groundbreaking brain disease research.

Cerebral small vessel disease (CSVD) is common among older adults, but its causes and connections to other brain diseases like Alzheimer’s aren’t well understood. Julie shares her experience of getting a diagnosis, struggling to find treatment, and the daily challenges of living with CSVD.

Julie Turner was 54 when she received a life-changing brain disease diagnosis. For years prior, Julie experienced problems with her memory and thinking clearly. After decades of working in healthcare, she started forgetting the names of basic equipment and how to operate machines she had previously taught others how to use. Eventually, Julie’s condition worsened and began to impact her movement and ability to speak. After several misdiagnoses, doctors finally concluded she had cerebral small vessel disease (CSVD). Only after getting an accurate diagnosis could Julie start effectively treating her condition.

We spoke with Julie about how CSVD has impacted her life, from her initial struggle to get a diagnosis to searching for effective treatments and learning how to manage her symptoms.

What is Cerebral Small Vessel Disease (CSVD)?

CSVD is an umbrella term for a variety of conditions resulting from damage to small blood vessels in the brain. In most cases, CSVD is caused by the narrowing or obstruction of small blood vessels in the brain due to inflammation and/or a buildup of misfolded proteins called plaques. This chronic damage can starve brain cells of oxygen and cause internal bleeding, which in turn can damage other nearby brain cells. 

Doctors know that impaired blood flow to the brain caused by CSVD can result in vascular dementia. However, recent research shows that CSVD is also associated with a higher risk (or increased severity) of other forms of dementia, including Alzheimer’s disease. More research is needed to fully understand the connection between these two diseases.

Early Symptoms of CSVD

Mild, early cases of CSVD tend to not have especially noticeable symptoms, and many of the early symptoms people do notice are often easily confused with the normal effects of aging. This presents a challenge—many people do not get a diagnosis until their condition has progressed to the moderate or severe stages and more significant brain damage has occurred. Later stages of CSVD can involve a variety of symptoms, including cognitive impairment and dementia, issues with walking and balance, depression, strokes, and nervous system problems (such as slurred speech and difficulty swallowing).

In Julie’s case her symptoms started with difficulty thinking clearly, trouble with her memory, and being tired more than usual. As her condition progressed, she began to experience nervous system issues, trouble walking, strokes, and even the early stages of dementia. Perhaps the most challenging part for Julie has been her struggles with speaking, reading, and writing. “Communicating is my biggest problem with this disease,” she says. Only after getting a correct diagnosis could Julie effectively address some of her symptoms.

Getting a Diagnosis and Common Misdiagnoses

CSVD is generally diagnosed using an MRI scan to check the brain for bleeding of the small blood vessels, damage to white matter, and evidence of small strokes. Because the majority of people experiencing serious CSVD symptoms are usually in their 70s or older, younger people often have a harder time getting a correct diagnosis. That’s exactly what happened to Julie. 

She explains, “I was initially diagnosed with fibromyalgia, and then they decided it was MS [multiple sclerosis]. I was actually treated for MS for a short time because I was declining so quickly.” 

At the MS clinic, doctors eventually realized her condition was vascular (impacting the blood vessels), and something clicked for Julie. “My grandmother died of vascular dementia. My grandfather died of Alzheimer’s,” she says. “So I’ve always in the back of my head thought, ‘there’s a possibility I’m going to get one of those.’” After years of living with CSVD, Julie was finally diagnosed at the age of 54.

How Do You Treat CSVD?

Current treatment options for CSVD are limited. They generally focus on reducing risk factors and avoiding or delaying complications like stroke and dementia. Individuals each have different risk factors, so personalized treatment regimens are the most effective. Treatment may include medications to reduce cholesterol, regulate glucose levels, and lower high blood pressure. Healthy lifestyle habits such as regular exercise, eating nutrient-rich foods, and quitting smoking are often recommended as well. Some symptoms, such as nervous system issues and depression, may be addressed with specialized therapies.

Julie currently takes several medications, including a blood thinner, blood pressure medication, and cholesterol medication. She’s been working with a speech therapist who has been helping her regain some of the language skills she lost in the years before she got an accurate diagnosis. “My speech is getting better,” says Julie. “A year ago, I couldn’t have said a full sentence. I’m relearning how to read, write, and talk.” She also sees a therapist for mental health support.

The Challenges of Living With CSVD

Julie faces many difficulties navigating life with CSVD. Her trouble thinking clearly and communicating makes it hard to express herself effectively when speaking with doctors and specialists. Problems with walking and balance also have a daily impact, making it hard to exercise and spend time outdoors. The additional risk of falling also means she must avoid living situations with stairs and hardwood floors.

For Julie, one of the most challenging consequences of CSVD was no longer being able to work. Julie entered the healthcare field as a young, single mother, working her way through school and eventually becoming a nurse. Her career brought her joy for decades, and she loved being able to help people every day. But CSVD’s impact on her memory and thinking skills eventually meant she couldn’t safely do her job. 

“I loved my job for 40 years and was forced to quit,” she says. “That was hard for me, to lose my whole career.”

It’s vital for people with brain diseases like CSVD to have a strong support network. Julie notes that she lost some people in her life due to the added challenges her condition created. This led not only to more difficulties navigating daily life and care, but also worsening depression. Feeling isolated and depressed is unfortunately all too common for people experiencing chronic illness, and it’s essential to be able to rely on caregivers, family, friends, counselors, and support groups.

Why More Research is Crucial for Brain Diseases Like CSVD

Julie wishes that we understood more about how CSVD works and that there were better resources for people like her trying to navigate various symptoms and care. Much of the information that is available focuses on people in older age groups with later stages of the disease, but she hopes that in the future there will be more studies focusing on younger people with early-onset symptoms. 

“I wouldn’t wish this on anyone. If they could stop it or slow [the progression], or find it when you’re younger and prevent it from coming on so early… I don’t know anyone who wouldn’t want that to happen,” Julie says. Further studies can also educate people and help spread awareness about what CSVD looks like in the early stages, aiding in earlier diagnosis and treatment.

Because CSVD shares symptoms—and potentially causes—with other neurodegenerative brain diseases like Alzheimer’s, Parkinson’s, and MS, a discovery related to one disease can have a ripple effect on treatments and diagnosis for all the others. That’s why ongoing research across the full spectrum of brain diseases and disorders is so important. “If you cure one [disease], it gives everyone else hope,” says Julie. “And a lot of times with this disease, that’s all you have.”

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we can all experience life without brain disease.

Dr. Barnett-Tapia discusses how funding from the American Brain Foundation opened up new opportunities for patient-centered research.

The American Brain Foundation is dedicated to finding new treatments, better diagnosis methods, and cures for all brain diseases. With the help of the American Academy of Neurology, our Next Generation Research Grants provide support for a wide range of innovative research projects from early-career researchers.

In 2012, Carolina Barnett-Tapia, MD, PhD, associate professor of neurology at the University of Toronto, received a grant funded by the American Brain Foundation. Her research project worked to identify what people with myasthenia gravis found most important about their symptoms and resulted in the development of a new symptom evaluation tool that incorporates a patient’s own perspective into clinical assessments. 

We spoke with Dr. Barnett-Tapia about how her early American Brain Foundation-funded project launched her career as a researcher and provided crucial information on patient-centered care. Her research has provided valuable insights on why it’s important to include the patient’s voice in research and treatment plans, as well as unlock possibilities and new discoveries on future treatments.

Dr. Barnett-Tapia’s responses below have been condensed and edited for clarity.

Why were you inspired to study the brain?

I love neurology. I always thought the nervous system was fascinating and incredible. Our brain—and the spinal cord and nerves—allows us to move, to function, to think. It’s truly the core of what makes us, us. I work with nerves and muscles that relay information to and from the brain. I see how important it is for patients who have diseases that affect parts of the nervous system to have new treatments and new therapies that can make their lives much better, as well as relieve suffering and improve functionality.

What specific issue is your research trying to address for patients?

My research is focused on understanding what matters to patients the most, identifying those values and considerations, and making sure that new treatments are actually improving the important things for patients. A lot of my research is also focused on understanding what the most impactful symptoms are for patients in their daily lives. Asking patients what they consider important allows us to incorporate those aspects into research, new treatments, and clinical practices to improve patients’ lives.

Could you elaborate on the role of the patient’s perspective in your research? What kinds of insights did you discover?

We learned that clinicians and patients have different views. What clinicians find important and what patients find important come from different perspectives. But we’ve also learned that there are things we can do [to bridge this divide]. Every time we interview patients and do patient-centered research, we focus on the patient’s perspective and experience. We also now routinely ask patients in our clinic and studies if they’re satisfied with their treatment and symptom management. 

Even if we’re experts on a disease, no one is as much of an expert as the patients who live with it. Through this research, we learn about what patients find relevant that we hadn’t thought about. I find that so enriching as a clinician and a scientist—to be able to build on that knowledge from patients and try to bring it to the table in clinical trials or clinical practice.

What did your American Brain Foundation-funded Next Generation Research Grant enable you to work on?

This award allowed me to devote time to interviewing patients in order to gain knowledge about the impact of neurologic diseases on their lives. So I sat with patients and talked to them for an hour or two about their experience having this disease. It allowed me to take time off clinical work to really gain knowledge about the impact of brain disease in patients’ lives and come up with tangible ways to put numbers to that experience.

It’s hard to think about putting a number to something so personal, because everyone is different and has different experiences. But what we’ve tried to do is develop a tool to help us standardize [the patient care process], and now we’ve been able to use these insights in clinical practice. So when we see patients in the clinic, we can ask them the questions and measure the symptoms that we know matter to them.

How did this early American Brain Foundation-supported research open doors for additional research funding or future research projects? 

I cannot put into words how much the American Brain Foundation award changed my life. I do not know how successful I would have been without this award. I did not have a lot of research experience when I got the award; I was just learning. I was also not trained in North America, so I didn’t have a lot of that background that allows you to get more funding. 

This opportunity really opened doors for me, because it’s a big thing to be supported by the American Brain Foundation. After I got the award, I could see that people were noticing that my work had been recognized by the Foundation. I have been very lucky to be funded since and have been successful in other endeavors.

Additionally, the fellowship opened all these doors for me not just in terms of funding but also through a whole network of mentorship. With the American Brain Foundation, you are part of this cohort of amazing, talented clinicians and scientists, and this community really helps each other. Their goal is to help you succeed as a researcher. Even today, I correspond with some of the mentors in the program. They still invite me to events and offer advice if I need, and I think that’s really priceless.

How would discovering treatments or a cure for one brain disease impact other diseases?

So even though as a clinician you may focus on a very specific number of diseases, from a scientific perspective, some of the methods and approaches we use can be applied to other diseases. My focus has been on understanding patients’ views and preferences, as well as developing measures and outcomes—things we can actually use in clinical trials to see if medications are working. That translates to any other disease. 

The methods and the way we come to these conclusions can certainly be used for different diseases. If we do well in one field, some of our colleagues from other fields may say, “Oh, that’s a really interesting approach. Can we use this approach for this different disease?” This really helps everyone because in science, as we move forward, it’s like stepping stones. One discovery helps everyone else get new ideas and bring things that have been working for one disease to help battle another one.

What do you hope your research will help accomplish for patients? 

My hope is that my research will help bring patients’ views and perspectives to the table so that the treatments we’re developing and using are those that really have value for patients and are really improving the things that are meaningful for patients. For instance, sometimes as clinicians, we are focused on something in our exam or testing, but often patients don’t care about those things. Patients want to be able to spend time with their families, they want to be able to work, they want to be able to do their hobbies—they want to be able to have a normal life.

The other thing is that by learning more about what patients value and what’s important to them, we can use that information for other parts of the research and treatment process. For instance, we can help make sure that the voice of the patient is included in conversations about what medications are funded and approved. So that would be my goal—keeping the patient perspective in mind across the development and approval of new therapeutics.

How far has research come since you began your career, and what are the most exciting discoveries and developments you’ve seen since you entered the field?

There are too many to count. We are treating things today we couldn’t treat before. In my specific field, we are treating diseases—like genetic disorders—that were untreatable even a few years ago. It’s really amazing what we have accomplished. The research across all fields of neurology is just amazing, and this is why we need more research—to keep going and really expand beyond the diseases that we are currently able to treat.

In the past seven years, we’ve had around 15 drugs or interventions approved to treat neuromuscular disorders. Between 1955 and 2010, we had less than 10. So in seven years, we’ve had multiple times the number of medications approved specifically for nerve and muscle disorders than we had in the past 60 years. We’re seeing three to four new drugs approved every year. That is truly amazing. 

One of the biggest examples is treatment for spinal muscular atrophy (SMA). This is a genetic disease that affects the nerves, and it can affect babies from birth and young children, most commonly, although sometimes it presents later. These were children that used to not be able to walk or sit, many of them with very early death—it’s a devastating genetic disease that had no treatment. Now we have treatments that, especially if they’re given early while someone is a baby, they can [restore movement] and achieve the standard milestones of a healthy child without SMA that was unthinkable years ago. That’s research at work.

Why is it so important to fund research?

Research is a massive undertaking, and it cannot happen without funding. To produce good research, we need funding, and funding through usual sources [like the NIH] is very limited. Unfortunately, we always need more funding for research—the only way research has advanced so much [in recent decades] is through philanthropy and donations.

Also, there are many rare neurologic diseases that affect a very small number of people but are quite severe. For those diseases, we probably know 10% of what we need to know to cure them, but we’re way above where we were in the past—even just 5 years ago. It’s been so accelerated, and as we continue with our research, we’re going to come closer to curing all brain diseases.

I got my award over 10 years ago. We have to think about the next generation of people who will take over and bring in new ideas—so funding is also about training new people, and about getting new people excited about the questions that we’re pursuing in research. That won’t happen without these types of programs that really help researchers who are just starting out.

Why are organizations like the American Brain Foundation so important? 

The American Brain Foundation is important because it is dedicated specifically to research that will help us develop treatments for people with brain and nervous system diseases. The other reason the Foundation is so important is that it’s committed to training new generations of clinicians and scientists, as well as building a network so that this work is sustainable in the future. The way I see it, the American Brain Foundation is a community, and the goal is to maintain and grow this community for the benefit of patients and their families. I think that’s pretty unique. 

The American Brain Foundation is invested in people, and at the end of the day, what research needs is people—it’s people who do the work and drive research, and it’s people we’re treating. This investment in people whose lives are devoted to brain and nervous system diseases is really crucial.

Research is what allows for the discovery of cures for all brain diseases. Investing in the people behind these studies and programs is what allows people living with brain disease to receive the treatment they need and deserve. Through research and understanding the patient’s perspective, we can fulfill the American Brain Foundation’s mission of discovering new treatments and cures for all brain diseases.

The American Brain Foundation is committed to supporting the next generation of brain disease researchers. By donating today you can help us achieve our vision of life without brain disease.

Learn how our philosophy of Cure One, Cure Many helps us uncover important connections between brain diseases and drives our approach to research.

At the American Brain Foundation, our support for brain disease research is driven by our philosophy of “Cure One, Cure Many.” This is based on our understanding that brain diseases—both causes and symptoms—are often interconnected, and that deepening our understanding of one disorder will unlock critical insights into other, related diseases. When we fund research across the whole spectrum of brain diseases and disorders, we increase our chances of developing these key insights and research breakthroughs.

Below we answer some common questions about what Cure One, Cure Many means and how this philosophy guides our efforts to achieve our vision of life without brain disease.

What does Cure One, Cure Many mean?

We know that all the different parts of the brain are connected. This means, for example, that diseases impacting one area of the brain often share causes or symptoms with others. 

By investing in research that can help us find these key connections between brain diseases, we create a foundation on which future researchers can build. This leads to more targeted avenues of research, the ability to apply elements of certain treatments to a wider range of diseases, the discovery of new biomarkers to aid in diagnosis, and ultimately more cures. 

Why is Cure One, Cure Many so important to the American Brain Foundation?

We have seen how brain disease irrevocably alters peoples’ lives—not just the millions of people impacted by brain diseases and disorders every day, but also their families, caregivers, and communities. That’s why we invest in research initiatives with the widest possible impact. One discovery can have a ripple effect that leads to new or improved treatments, better diagnosis methods, and cures for a range of brain diseases.

Doesn’t finding cures take a long time? 

Finding cures for brain diseases is a slow, rigorous process, but along the way we often uncover new insights that lead to new treatments, testing options, and technology. So as we’re pursuing a cure for one brain disease, we take significant steps forward in the research and treatment of many others. 

In fact, this is one of the reasons Cure One, Cure Many guides our investment in research: For each disease that we study, we gain knowledge that will improve the quality of life for millions of people living with other brain diseases as well.

How does Cure One, Cure Many help me? Will finding a cure or improved treatments for Alzheimer’s help my Parkinson’s disease?

We understand that it’s frustrating to see advancements in diagnosis and treatment for other brain diseases while living with a condition for which there’s currently no cure. However, advancements in one disease area can create the foundation for critical steps forward in others.

One research area with the potential to impact diagnosis and treatment for many different diseases involves neuroinflammation. Researchers are currently investigating the connections between neuroinflammation and neurodegenerative diseases like Alzheimer’s, Parkinson’s, and multiple sclerosis (MS). While inflammation is an important part of the brain’s immune response, it has also been linked to brain cell death and the progression of neurodegenerative diseases like Parkinson’s and Alzheimer’s. Neuroinflammation may also play a role in the brain’s inability to repair myelin—the protective layer around nerve fibers—in MS.

The more we understand the many complex ways that inflammation affects the brain, the closer we will get to understanding its role in neurodegeneration, and the greater our chances of developing early diagnosis methods and treatments.

“Cure One, Cure Many means that we are saving lives. We have the opportunity to see the first survivor of a rare brain disorder [like] ALSP. It’s important for us to find treatments and cures, not just for ALSP, but for all brain disorders, because we’re all in this together.”
— Kim Cade, whose brother Jeff was diagnosed with ALSP

“I’ve been a big proponent of sort of de-siloing the field. As I often say, Cure One, Cure Many is something that is extremely accurate. A huge amount of clinical and basic research is now showing that the underpinnings [of various diseases] in some ways are related and we can capitalize on discoveries in one field and bring them to another.”
— Frances Jensen, MD, FACP, FAAN
Professor of Neurology and Chairman of Neurology at the Perelman School of Medicine at the University of Pennsylvania; Co-Director of the Penn Translational Neuroscience Center

How do you know Cure One, Cure Many actually works? 

So many historical advancements in brain disease treatment have been made possible through research. We have seen countless examples of one research discovery creating a ripple effect across the field, impacting the diagnosis and treatment of other diseases.

For example, the discovery in the 1980s of Lewy body disease (LBD) as a distinct disease separate from Alzheimer’s has led to a deeper, more complex understanding of the many different types of dementia. We now understand LBD as actually referring to two diseases: dementia with Lewy bodies (which begins with dementia symptoms) and Parkinson’s disease dementia (which first presents as symptoms of Parkinson’s disease).

Additionally, research sometimes yields a particular method of treatment that can be applied to many different diseases. In 2019, the American Brain Foundation’s Scientific Breakthrough Awardee, Jerry Mendell, MD, discovered a groundbreaking treatment for spinal muscular atrophy (SMA), a previously untreatable and otherwise fatal disease. Dr. Mendell’s discovery was the result of years of research into gene therapy, and researchers are now building on this first-of-its-kind treatment to develop similar therapies for Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy.

Discoveries like these lead to more clearly defined targets for future research and enable us to better understand how to treat all brain diseases.

What is the Foundation doing to support Cure One, Cure Many?

The American Brain Foundation recently awarded a Cure One, Cure Many Award for the early diagnosis of Lewy body dementia (LBD). The Foundation granted $3 million to a team of researchers from the Mayo Clinic, the University of Pennsylvania, and the University of North Texas Health Science Center to identify a blood-based biomarker that will aid in the diagnosis of LBD. This award is offered in partnership with the Alzheimer’s Association, The Michael J. Fox Foundation for Parkinson’s Research, and the American Academy of Neurology. 

Additionally, our Next Generation Research Grants program funds innovative research from early-career investigators across the full spectrum of brain diseases and disorders. We are currently supporting research projects in ALS, Alzheimer’s and dementia, Parkinson’s disease, multiple sclerosis, stroke, and many other disease areas.

We also recently launched a research initiative to better understand neuroinflammation as an underlying mechanism of brain disease and brain health. This understanding will allow us to more precisely target symptoms and causes of diseases like Alzheimer’s disease, Parkinson’s disease, ALS, stroke, epilepsy, and many more.

How can I support Cure One, Cure Many?

Every donation to the American Brain Foundation supports whole-brain research across the full spectrum of brain diseases and disorders. Looking for ways to offer ongoing support? Our monthly Brain Squad members provide the sustained commitment we need to fund research that will eventually uncover more advanced treatments and cures.

You don’t have to make a big donation to make a difference, either. You can help us by starting a Facebook fundraiser or personal fundraising campaign and asking your friends and family to donate. Spreading awareness of brain disease and the importance of research is crucial to finding cures. If you or a loved one has been impacted by brain disease, share your story today.

Learn more ways to support brain disease research and our commitment to Cure One, Cure Many—and help us take the next steps toward our vision of life without brain disease.

Dr. Chhatwal discusses his research on Alzheimer’s disease and how funding from the American Brain Foundation played a pivotal role in his early career.

At the American Brain Foundation, we know that research is the key to discovering new treatments and cures for all brain diseases and disorders. This is why our Next Generation Research Grants are designed to promote innovative projects from early-career investigators that contribute to the future of brain disease research.

Jasmeer Chhatwal, MD, PhD, MMSc, Associate Professor of Neurology at Harvard Medical School, was the recipient of a Next Generation Research Grant from the American Brain Foundation in 2012. He now directs the Biomarkers of Neurodegeneration, Inflammation, and Cognitive Decline (BioNIC) laboratory at Massachusetts General Hospital, where researchers are working to develop blood tests that could enable earlier and more effective diagnosis of Alzheimer’s disease. 

We spoke with Dr. Chhatwal about how his 2012 research grant influenced his career as a researcher and how his American Brain Foundation-funded project informed his later research on Alzheimer’s disease. He also discusses his hope for the future of Alzheimer’s treatment, how far research has come in the past 10 years, and why funding is so important for patients and clinicians everywhere.

Dr. Chhatwal’s responses below have been condensed and edited for clarity.

What inspired you to study the brain?

I started college as an architect—then I took a neurobiology course when I was a sophomore, and ever since, I’ve been a neuroscientist. I definitely have personal touchstones to brain disease, and I think that has helped me along the way. My grandfather died of a stroke. My grandmother had a condition called cerebral amyloid angiopathy, which is related to Alzheimer’s disease, and died of an intracranial hemorrhage. My other grandmother, unfortunately, has Alzheimer’s disease. 

So there’s a lot in my family that brought me to the table, but I’m fascinated by it. It’s obvious that Alzheimer’s disease is hard to treat, but it’s so common and touches almost everyone’s life. There’s so much room for improvement in the way we treat it. To me, it’s always been very, very compelling, emotionally and intellectually.

What specific issue is your research trying to address? 

For patients, the idea is to accelerate the development of treatments for Alzheimer’s disease. We have a few symptomatic therapies that are available, there are a few lifestyle changes we can suggest, but we lack drugs that are potent enough to change the course of the disease as of yet. That’s really beginning to change. There’s a lot of hope in the field that within the next year or two, we’re going to have some new drugs on the market, and that will lead the way to more and more effective treatments for Alzheimer’s disease. 

People sometimes think the cognitive decline seen in Alzheimer’s disease is just a part of the aging process—perhaps an accelerated version of that—but what we’ve learned over the years is that they’re actually very different things. The normal aging process puts you at higher risk for cognitive decline, but it’s not inevitable that as people get older, they’re going to have cognitive decline. 

My research is really intended to understand how to separate [cognitive changes due to] the normal aging process from Alzheimer’s disease and to provide tools and targets for future drug development.

How would better understanding biomarkers for Alzheimer’s enable us to improve treatment and diagnosis of the disease?

We need to identify people [at high risk for Alzheimer’s] early on, and we need to know what sort of things are absolutely central to the disease process that we can measure when we give medication. When we try to find a medication that changes the course of a disease, we need something called a biomarker. This allows us to know whether we’re using the drug at a proper dose, whether we’re engaging the target we want to engage, and over time, especially in a disease that evolves over years, whether or not we’re making progress.

What other factors do you consider when thinking about treatments for Alzheimer’s?

Another thing is that along with developing drugs, it’s important to have behavioral interventions that reduce the chances of developing Alzheimer’s disease in the first place. So we try to look at potentially modifiable risk factors. The ones that seem most prominent in terms of cognitive decline are things like elevated vascular risk factors, changes in sleep, and physical activity level. Those are the things we focus on the most, and all of them seem to have some sort of contribution to the likelihood that someone’s going to show cognitive decline.

Can the discovery of a certain treatment or cure for Alzheimer’s help with other diseases? 

Yes. There are many different types of dementia, and many of them involve different types of protein buildups. If you develop techniques to identify specific proteins [responsible] for Alzheimer’s disease, some of those same techniques can also be applied to other diseases that involve protein buildups.

It’s also the case that as we treat Alzheimer’s disease, we also treat another condition called cerebral amyloid angiopathy, which frequently co-occurs with Alzheimer’s disease. It’s a very frequent cause of hemorrhagic stroke and can be a very serious disease in its own right. So that’s another way we can make a difference in other diseases. 

Potentially modifiable risk factors like lack of exercise, smoking, and sleep disruption are really important for reducing the emergence of cognitive decline, but they’re also very important for reducing the risk of stroke and heart disease. So the idea is to develop technologies that have a broad reach in Alzheimer’s disease and also beyond—that can be used in clinical trial settings and to reduce risk factors for [conditions like] heart disease and stroke as well.

What do you hope your research will do to help patients? What do you want people living with Alzheimer’s to know? 

Brain diseases are difficult to treat, but it’s not impossible. There are two phases [to research]: There’s understanding and there’s developing treatments. Both can advance at the same time, and I think that’s what we’re seeing right now. The better our understanding is, the more effectively we can target the disease.

I think Alzheimer’s disease is one of the most feared complications of aging. Individuals with Alzheimer’s disease lose a lot of the cognitive capacities they identify with their own personality and that allow them to meaningfully interact with their families. This also creates a huge burden for caregivers. Right now, there are over 16 million caregivers for Alzheimer’s disease patients in this country and over 5 million people that are affected. It’s one of the most pressing public health emergencies of our time.

But there’s good news on the horizon. There’s been a lot of progress in the last 10 years in Alzheimer’s disease research, and we’re starting to see that bear fruit in terms of new therapies and new approaches. For my patients, my hope is to give them more time with their families and their loved ones, and hopefully to reduce the caregiving burden on families as well.

How far has research come since you began your career? What kinds of exciting discoveries and developments have you seen since you entered the field?

The ability to diagnose Alzheimer’s disease has advanced tremendously with the development of amyloid PET scans, tau PET scans, and now blood-based biomarkers. It’s revolutionized the field. Even within the last two years, we’ve seen two drugs that have shown signs that they can actually slow down cognitive decline. That’s amazing! I think that’s the first time in human history where we’ve actually had the possibility of disease-modifying therapies for a common disease like Alzheimer’s disease. 

This phase of Alzheimer’s disease therapeutics that we’re seeing now is targeting the amyloid protein. We’re going to start to see new therapies attacking the tau protein and reducing people’s risk overall by intervening in lifestyles and behaviors. My hope is that in a few years we’ll be able to do combination therapies, trying to treat the tau protein at the same time we’re reducing people’s risk of vascular disease.

So, it’s a very, very different field than it was 10 years ago. There’s a lot more hope and certainly a lot more understanding. We’re starting to see the fruits of [research] with new treatments that hopefully we’ll see very soon in clinics.

What did your American Brain Foundation-funded Clinical Research Training Fellowship enable you to work on? 

The core objective of my fellowship was to try to identify changes in brain networks that distinguish early Alzheimer’s disease from normal age-related changes. That work created a foundation that allowed me to work with two groups. 

One result of my fellowship has been my work with the Harvard Aging Brain Study, which is a long-running study that looks at older adults, some of whom are aging normally and some of whom have preclinical Alzheimer’s disease and eventually develop symptoms.

The second group is the Dominantly Inherited Alzheimer Network. Unfortunately, there are about 300 different genetic variants that can lead to Alzheimer’s disease at a very young age. There’s an international consortium to study these rare genetic variants. It’s rare for people to develop Alzheimer’s at a young age, so we don’t see age-related changes [in these individuals]. Looking at some of those contrasts allows us to focus on brain networks that distinguish aging from early Alzheimer’s disease. The idea is to develop a tool where we can identify people who are at risk.

What kinds of insights or discoveries did this research lead to?

The Harvard Aging Brain Study has been instrumental in developing new tools to look at cognitive decline and to develop PET scans and PET imaging as a core feature of clinical trials. I think that’s been one of its major impacts. Another thing it allowed us to do is really show the effect of elevated vascular risk factors together with even small amounts of amyloid buildup in the brain—that’s been one of my contributions in that study.

The Dominantly Inherited Alzheimer Network has been instrumental in identifying key core mechanisms of Alzheimer’s disease, identifying new drug targets, and looking at changes in the blood and cerebrospinal fluid that are indicative of early Alzheimer’s disease-related changes. 

So both groups have been very influential, and I think our internationally known studies have made important contributions.

How did your early American Brain Foundation-supported research open doors for additional research funding or future research projects? 

In several ways. [As an early-career researcher] you need dedicated time to develop your own ideas and to develop enough preliminary data that you can convince institutions like the National Institutes of Health (NIH) and other funding agencies to help your career development. The project the American Brain Foundation funded provided preliminary data for my career development award through the NIH. 

Since the first day, the project has just grown exponentially, and now we’re fortunate to have three R1-level grants to support our work. The R1 is the central and most common award for independent research funding given out by the NIH. It’s sort of a benchmark grant for someone transitioning from being a supported investigator working with other people’s data to developing your own independent ideas and developing a research program of your own.

[The American Brain Foundation grant] was instrumental in terms of creating the time and helping me develop the ideas and the preliminary data that allowed us to do what we do today.

Why is funding research so important?

It’s important to fund research because there are diseases [like Alzheimer’s] that cause tremendous suffering. I think diseases like Alzheimer’s have been around for as long as humans have been around. When we see something that causes so much suffering, there’s a tendency to say, “The brain is too complex. We can’t treat it. We can’t change the course of this. This is part of aging.” But we’ve realized over time that we can intervene. 

We’re starting to see the first interventions in human history against the buildup of the amyloid protein in the brain. But the way these things happen, the “behind-the-scenes” of research and technology development, all of that requires the concerted effort of large teams of scientists. It requires funding clinical trials that allow us to see whether or not particular treatments work, whether our understanding is correct, and whether the disease mechanisms we think are present are actually present. That’s how we find ways of altering the course of these very common and very burdensome human diseases—and the only way that gets done is if we put our effort, time, and money into it.

Why are organizations like the American Brain Foundation so important to supporting research?

I think the American Brain Foundation and the American Academy of Neurology are leading lights in terms of informing people about the importance of treating brain disease and that there’s hope to treat these very difficult-to-treat diseases. We need to encourage young, creative researchers to come into the field and apply their effort, time, and intellectual powers in new and innovative ways to problems that are really difficult to address.

So, in that respect, it’s not only [providing] hope, but actually enacting hope in order to understand and treat disease—engaging the people who can actually make that happen is the importance of the American Brain Foundation.

The American Brain Foundation is committed to supporting the next generation of brain disease researchers. By donating today you can help us achieve our vision of life without brain disease.

Stiff person syndrome (SPS) has been in the news recently due to Celine Dion sharing her diagnosis, but what exactly is this rare neurologic disorder? 

 

It’s not often that a rare neurologic disorder makes headlines, but you may have seen stiff person syndrome (SPS) in the news lately. Internationally acclaimed singer Celine Dion recently revealed that she had been diagnosed with the condition, causing her to cancel an upcoming 2023 tour. Her heartfelt announcement about her diagnosis moved her fans and made many people curious to know what SPS is and how it’s treated.

Often misdiagnosed for other more common conditions, stiff person syndrome affects approximately one in a million people. About twice as many women as men suffer from SPS.

Researchers are still working to understand why that is and discover the underlying causes of this disease. Though it is uncommon, learning more about this rare neurologic disorder may help shed light on other related diseases.

What Is Stiff Person Syndrome?

Stiff person syndrome is a neurologic disorder characterized by muscle spasms and progressive muscle stiffness. Muscle stiffness tends to fluctuate, often occurring along with muscle spasms. Spasms can happen randomly or be triggered by sudden noises, physical contact, and even emotional distress. Because people with SPS may have limited range of movement and impaired reflexes, intense spasms can sometimes cause falls and injuries.

Most people start experiencing SPS symptoms between the ages of 30 and 60. The severity of symptoms can range from person to person, and people with more acute symptoms may develop a hunched posture or require the use of a wheelchair. People with SPS are also more likely to suffer from anxiety and depression.

What Causes SPS?

Researchers are still trying to find out what causes stiff person syndrome. However, they suspect it may be due to an autoimmune reaction in which the immune system attacks a protein called GAD (glutamic acid decarboxylase). 

Antibodies are proteins that latch onto unwanted substances in the body (such as bacteria and viruses) in order to eliminate them from your system. This is your immune system’s way of protecting your body and fighting illness and infection. When someone has an autoimmune disease, their antibodies mistakenly attack normal, healthy cells. Researchers have found that people with SPS often have high levels of anti-GAD antibodies and are currently trying to understand if this type of autoimmune reaction plays a role in the formation of the disease.

GAD helps make an important substance called GABA (gamma-aminobutyric acid), which regulates motor neurons by decreasing their activity. Fewer normally functioning GAD proteins leads to low GABA levels. That, in turn, can cause motor neurons that GABA regulates to fire continuously, making it difficult for the body and mind to relax. Low GABA levels are also linked to increased anxiety and depression, which affect many people with SPS.

How Is Stiff Person Syndrome Diagnosed?

Due to its rarity and symptoms that overlap with other common conditions, SPS is often misdiagnosed as multiple sclerosis, Parkinson’s disease, and fibromyalgia. Typically blood testing plays a key role in getting a correct diagnosis. Antibody tests can detect the extremely elevated levels of GAD antibodies present in the blood and spinal fluid of most people with SPS. 

In addition to antibody tests, doctors can also use electromyography (EMG) to aid in diagnosis. An EMG test allows doctors to examine and record the electrical activity of various muscles throughout the body. This can help confirm an SPS diagnosis as well as monitor one’s response to medication and other treatments.

Is Stiff Person Syndrome Permanent?

Stiff person syndrome is a chronic condition, and there is currently no cure. Because each person’s symptoms can vary from mild to severe, treatment requires a personalized approach. Generally, doctors focus on mitigating pain, relaxing muscles, and suppressing a person’s overactive autoimmune response. 

Medications used may include sedatives, muscle relaxers, anti-anxiety drugs, and steroids. Botox is sometimes used to reduce muscle spasms when medications are not effective at controlling symptoms. To address the autoimmune response that is suspected to cause SPS, doctors may also utilize intravenous infusions—filtering the blood to remove GAD antibodies—and other immunotherapies like stem cell treatment.

Research Is Key to Curing Rare Neurologic Diseases Like SPS

More research is needed to understand precisely what causes stiff person syndrome, what the most effective treatments are, and ultimately, how to cure this rare neurologic disease. Researchers have noted that many people with SPS also have another autoimmune disease, such as type 1 diabetes, pernicious anemia, thyroiditis, or vitiligo. Additionally, SPS seems to be more common in people with certain types of cancer, including lymphomas, breast cancer, lung cancer, thyroid cancer, colon cancer, and kidney cancer.

The American Brain Foundation is currently funding a research project led by Alexander Gill, MD, PhD, which is investigating the connection between neuroinflammation and the loss of NLRX1—a protein that plays a role in the immune system—in multiple sclerosis (MS). While the goal of this research is to identify potential treatments for MS, projects like Dr. Gill’s also help us better understand related diseases and reduce the likelihood of misdiagnosis for diseases like SPS.

With more research, scientists can uncover the reason for these links, potentially unlocking important discoveries about other autoimmune diseases and movement disorders as well. We know that discovering causes and cures for one brain disease often leads to critical insights and breakthroughs in other areas. That’s why we support research across the whole spectrum of brain diseases and disorders—because we know that when we cure one, we will cure many.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. Only through research will we find cures for all brain diseases and disorders. Donate today to make a difference.

Imagine life without brain disease. That is our vision—and it is only possible through research to unlock better treatments, diagnosis methods, and cures.

Since 1992, the American Brain Foundation has been investing in research to defeat brain diseases and disorders. We invest in research across the whole brain and all neurologic disorders because we know brain diseases are interconnected. Research in one area has a ripple effect that influences our understanding of many other brain diseases. We know that when we cure one brain disease, we will cure many.

While we’ve seen incredible progress, so many vital research projects still go unfunded every year. That means research that could hold the key to potential breakthroughs in treatments and cures is not being conducted because they are not being funded. Below, we discuss several specific ways research directly impacts people’s lives—and how much more of an impact we can make by continuing to fund innovative research into all brain diseases.

“In the early 1950s, a famous virologist said that there was no cure for polio, and there was no cure in sight. And in a year or two, we had the poliovirus vaccine.” — Raymond P. Roos, MD, University of Chicago

Research Leads to Cures

All advancements in treatment and diagnosis are directly tied to research. One research discovery—whether it’s a breakthrough discovery or a small insight—has the power to lead to a better understanding of other brain diseases, improved treatments, and development of new diagnostic technology. Simply put, without research, there will be no cures. 

We’ve seen the benefits of research over the years through groundbreaking advancements in brain disease research. Insights in fluid biomarkers, brain imaging, neural implants, genome mapping, and other areas have had an impact in the diagnosis and treatment of multiple brain diseases.

However, the reality is that research costs money, and researchers need funding in order to carry out their critical research projects. To support those efforts, the American Brain Foundation works tirelessly to fund as many researchers and projects as possible. 

Our Next Generation Research Grants fund and support innovative investigations by the next generation of clinical neuroscience researchers. To date, we’ve awarded $34 million to nearly 300 researchers, and we are currently supporting 29 active research projects. The impact of this support goes even further, as more than 86% of Next Generation Research Grant recipients have gone on to secure funding from the NIH and other national funders, enabling them to establish lifelong research careers and continue important brain disease research.

“Many of these research projects are focused on disease areas where there is no treatment, there is no cure, and so this is desperately needed. Every dollar toward research counts, and only with the help of sponsors and supporters can we continue to fund this kind of research and make a life with no brain disease a reality.” – David Dodick, MD, FAAN

 

Closing the Funding Gap

Only through research will we find better treatments, diagnosis methods, and cures. And only through donations is this research made possible. Every year, many important research projects go unfunded. In fact, the American Brain Foundation is only able to fund 25% of the applications we receive for research projects. That means 75% of potentially life-saving research projects are going unfunded, leaving millions of people without treatments, cures, and answers.

We know we can do more for people with brain disease and their loved ones. The only way to help close that gap and fund more critical research is through donations.

“We’re seeing that [brain diseases] are actually way more related than we ever thought. Something somebody might learn in migraine might inform epilepsy. Something somebody might learn in dementia might inform Parkinson’s disease.” – Francis Jensen, MD, University of Pennsylvania

 

Cure One, Cure Many

The brain is the most complex organ in the human body. It consists of distinct but connected parts, each with its own unique function. And just like the different parts of the brain, neurologic diseases are interconnected as well.

Since we know all parts of the brain are connected, we know that insights into one brain disease—its causes, mechanisms, and effective treatments—will lead to insights we can apply to many other diseases. Unlocking a cure for one brain disease will provide a better understanding of others, and ultimately will lead to more cures.

This knowledge comes from and informs our approach to research. The American Brain Foundation funds research to actively study the connections across multiple brain diseases. Our Cure One, Cure Many program provides large-scale, catalyst funding to the world’s top researchers in the pursuit of the most innovative, cross-cutting approaches to finding diagnoses, treatments, and cures for brain disease. The program targets research topics across multiple disease areas. For example, we know that inflammation of the nervous system is a common factor across multiple brain diseases, including Alzheimer’s and multiple sclerosis. Learning more about neuroinflammation in general could help doctors and scientists better understand how to regulate that inflammation, allowing for improved treatments for multiple diseases. 

Our 2022 Cure One, Cure Many Award aims to find a biomarker (diagnostic test) for Lewy body dementia, the second most common cause of neurodegenerative dementia after Alzheimer’s disease. Our next large-scale research initiative will focus on understanding neuroinflammation, a crucial underlying mechanism in a number of neurologic diseases.

How You Can Make an Impact

We unite donors and researchers to improve the lives of people living with brain disease and their loved ones. The good news is that individuals like you can make an impact. There are many actions you can take to support research breakthroughs that will lead to improved treatments and cures for diseases across the whole spectrum of the brain:

• Donate to fund the Foundation’s many research programs. Your gift invests in research to improve treatments and find cures across all brain diseases.
• With our new peer-to-peer fundraising, you can start a personal fundraiser to get your friends and family involved in supporting brain disease research.
• There are many other ways to make an impact, whether it’s becoming a sustaining Brain Squad member, leaving a legacy gift, or making a gift in a loved one’s name. Discover more ways to give.

Life without brain disease is possible—and we’ll get there faster with your support. Funding research across the entire brain and nervous system is our best hope for finding better treatments, prevention, and cures for the brain diseases affecting millions of people worldwide.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we can all experience life without brain disease.

Treatments for both of these brain diseases have evolved over time with research. Now, experts explain how lifestyle factors can have a major impact on managing Parkinson’s disease and multiple sclerosis symptoms.

The American Brain Foundation is committed to sharing valuable resources and increasing public awareness of brain disease. As part of our ongoing efforts to highlight the latest advancements in brain disease research, our recent webinar connected attendees with two renowned experts to discuss managing Parkinson’s disease and multiple sclerosis (MS).

Lisa Shulman, MD, director of the University of Maryland Movement Disorders Center, is a neurologist specializing in Parkinson’s disease. Her research focuses on the impact of chronic neurological diseases on daily function and quality of life.

Dr. Shulman was joined by Ellen Mowry, MD, director of the Multiple Sclerosis Experimental Therapeutics Program and a professor of neurology at Johns Hopkins Medicine. Dr. Mowry’s research interests include the role of environmental risk factors in multiple sclerosis.

Dr. Shulman and Dr. Mowry’s conversation outlined how treatment options for MS and Parkinson’s disease have changed over time. They also discussed how to improve outcomes for both diseases, including everyday actions people with these diseases can take to improve their quality of life and reduce disability.

The Evolution of Treatment Options for MS

When Dr. Mowry began working with people with MS in the mid 1990s, there was one FDA-approved treatment for the disease. Today there are almost 25 FDA-approved medications for MS that can help people manage symptoms and reduce the degree of long-term disability.

“The early phases of MS are caused, we think, by the immune system [attacking and] causing injuries in the brain and the spinal cord,” says Dr. Mowry. These injuries cause neurologic symptoms, such as vision loss and trouble with coordination, in addition to damaging nerves in the brain. The latter can be visible on MRI scans.

In the early stages of MS, medications can help reduce the number of these attacks and minimize damage to multiple areas of the brain. This type of early treatment is especially important in preventing severe disability that becomes more likely as the disease progresses. As damage to the nerves in the brain accumulates over time, it can lead to progressive MS—an advanced stage of MS without any currently approved treatments.

Even as research continues, it’s important to recognize that there has been progress in treatment outcomes. “We have a lot of accumulating data that follow groups of people over time to suggest that a person diagnosed with MS today is at lower risk of developing disability than a person who is diagnosed prior to the [current] disease-modifying therapy era,” says Dr. Mowry. “We used to quote a risk of people becoming disabled at around 50%, say 15 years or so into the illness. Now we’re down in the 5-10% range in terms of being disabled enough to need a cane to walk.”

The Evolution of Treatment for Parkinson’s Disease

Researchers have found that people with Parkinson’s have low levels of dopamine, a neurotransmitter that sends signals between nerve cells and helps control body movements. Levodopa is currently the main drug-based treatment of choice for Parkinson’s disease. It works by replacing missing dopamine and reducing motor symptoms, such as muscle stiffness.

While this medication has been around for more than half a century, during that time research has made significant strides in improving diagnosis and delaying disability for people with Parkinson’s. “When I started in the field, we would think in terms of people having considerable problems 5 to 10 years after diagnosis,” says Dr. Shulman. “Today it’s quite common to see people who are 15 or more years after diagnosis who live active lives—not to say asymptomatic, but they’re able to maintain a good lifestyle in many cases.”

Part of this progress has been due to an expansion of medications and surgical treatment options, allowing doctors to fine-tune a person’s treatment plan to their specific symptoms and needs. Surgical treatments—including deep brain stimulation (DBS) and focused ultrasound—can improve symptoms and reduce involuntary movements. While they were previously thought to be a “last resort,” doctors have learned that surgical interventions can have a positive impact on disability and quality of life when used in earlier stages of Parkinson’s disease.

Lifestyle Changes to Improve Outcomes

Dr. Shulman and Dr. Mowry also shared how making certain lifestyle changes—including regular exercise, a healthy diet, and plenty of quality sleep—can help people with Parkinson’s and MS.

Exercise

Research shows that a combination of aerobic exercise, muscle strengthening, and stretching has the power to improve outcomes, symptoms, and mobility for people living with Parkinson’s and MS. 

“Right now, if you were to ask what intervention has the most evidence [showing it can] delay the progression of Parkinson’s disease, that is exercise,” Dr. Shulman says. “What you find [in animal research trials] is that there is a huge difference in the number of connections in the motor pathways—a huge difference in the survival of the neurons, the nerve cells in those pathways—and I think that’s what we’re seeing in our patients.”

Based on smaller studies, exercise also appears to be beneficial for managing some MS symptoms that don’t typically respond well to medication. These symptoms include fatigue, which is one of the major symptoms of MS, as well as depression and anxiety. Exercise also reduces insulin resistance (a condition that leads to increased blood sugar), which in turn lowers the risk of health issues like diabetes and high blood pressure—both of which have been shown to accelerate damage to the brain.

Dr. Mowry often recommends physical therapy for people who have difficulty with mobility and balance. Engaging in daily activities—simply moving one’s body throughout the day—is especially important and beneficial for people with MS. “I’ve stopped worrying about whether people are doing 150 minutes of high-intensity interval training and started encouraging people to just move. That’s a great starting point,” she says.

Diet

Smaller studies on nutrition and MS suggest that a healthy diet benefits quality of life, reduces fatigue, and may help minimize neurologic symptoms. “We have looked at obesity as a marker of cardiometabolic syndrome, and we know that people who are obese and living with MS have accelerated damage and loss of brain tissue,” says Dr. Mowry. Cardiometabolic syndrome includes a group of health factors like high blood pressure and high cholesterol that increase the risk of diabetes, heart disease, and stroke—all of which can contribute to damage in the brain.

While overall research is inconclusive, one study suggests that people who eat a Mediterranean-style diet—including fruits, vegetables, and fish and avoiding red meat and fatty foods—may have a lower risk for developing MS.

While there is not as much evidence linking diet to Parkinson’s symptoms or risk factors, dietary changes have shown to be beneficial in managing certain health complications that often arise with the disease. “When it comes to diet in Parkinson’s disease, there isn’t one particular thing that you tell everybody,” Dr. Shulman says. “It has to do with the specific problems that the person is having. You would target those problems with certain kinds of changes.” 

For example:

• Timing of medication with meals: If it’s possible to take medication on an empty stomach, the body absorbs the medicine more quickly. However, people who have gastrointestinal issues or nausea may need to take their medication with food.
• Constipation: Making changes like eating more high-fiber foods and drinking more water can help relieve these symptoms.
• Blood pressure instability: This is a relatively common problem among people with more advanced Parkinson’s. To help stabilize blood pressure, it’s important to maintain good hydration and can sometimes be beneficial to include more salt in a person’s diet.

Sleep

Not getting enough sleep can affect long-term brain health. For people with MS and Parkinson’s, improving the quality and amount of sleep they get can be helpful in managing symptoms.

People with Parkinson’s and MS often experience mood disorders like anxiety and depression—both of which can result in poor sleep quality. “Sometimes it can be hard, at least for my patients, to accept treatment of those mood disorders,” says Dr. Mowry. “But I always argue that screening for them and treating them when appropriate could have massive benefits for the health of their sleep, their quality of life, and in the long term, brain health as well.”

People with MS and Parkinson’s who are experiencing trouble sleeping may use small doses of melatonin, a supplement to help shift your internal body clock and promote better sleep. Melatonin can also have some benefit for people with Parkinson’s who experience visual hallucinations.

Finding Connections Between Neurodegenerative Diseases

The American Brain Foundation funds research across the entire spectrum of brain diseases because we know that all parts of the brain are interconnected. When we make treatment advances and develop cures for one disease, it will lead to cures for other diseases as well.

Dr. Shulman echoes this idea. “These chronic conditions have a lot more in common than they are different, and that’s particularly true when it comes to lifestyle issues,” she says. “The area that comes to mind—and the area that I’ve studied and I’m very passionate about—is the issue of patient empowerment.”

She points out that people with Parkinson’s and MS have the power to take action in their daily lives to improve their outcomes. By being engaged and knowledgeable about their disease, medications, and bodies, they can develop confidence in their own abilities to make lifestyle changes and manage their condition.

“You can design and individualize your lifestyle in the best possible way,” says Dr. Shulman. “Whether you’re dealing with the fatigue of MS or the motor fluctuations of Parkinson’s disease, you can begin to customize your life in a way that works for you.”

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Learn more about brain disease or make a gift to support critical brain disease research.

The latest brain disease research reveals promising new avenues for treatments and essential insights into brain function.

In this month’s brain news round-up, we discuss how a discovery about dopamine will affect Parkinson’s disease treatments and delve into a promising new therapy for Alzheimer’s disease. We also explore how researchers discovered the cause of a rare brain disease and the ways studying linguistically gifted people provides valuable insights into brain function.

OHSU Discovery Could Suggest New Avenues to Treat Symptoms of Parkinson’s Disease

Researchers at Oregon Health & Science University (OHSU) have made an important discovery about how dopamine works, paving the way for potential new treatments for Parkinson’s disease. Scientists have long suspected that dopamine is influenced by an opposing indicator from another neurotransmitter (a molecule released by a neuron to affect another cell). The study from OHSU confirms that dopamine operates in a push-pull relationship with the neurotransmitter adenosine. Senior author Haining Zhong, PhD, OHSU Vollum Institute, explains, “There are two neuronal circuits: one that helps promote action and the other that inhibits action. Dopamine promotes the first circuit to enable movement, and adenosine is the ‘brake’ that promotes the second circuit and brings balance to the system.”

So why is this exciting news for researchers studying Parkinson’s disease? Both dopamine and adenosine are neurotransmitters involved in motor control. Parkinson’s disease is a movement disorder caused by the loss of nerve cells that produce dopamine. This recently discovered link between dopamine and adenosine opens up new avenues of drug development to effectively treat symptoms of Parkinson’s.

Vanderbilt, International Collaborators Discover Treatment to Slow Neurodegenerative Diseases

A recent study has identified an effective therapy for Alzheimer’s disease and other previously untreatable dementias. These types of diseases are generally caused by the spread of misfolded proteins in the brain, leading to neurodegeneration. To address this, researchers at Vanderbilt University and the University of Glasgow targeted the M1-receptor, a brain protein that plays a crucial role in learning and memory.

Researchers activated the M-1 receptor using a modulator compound delivered to the brain through oral doses. This technique successfully normalized abnormal neurotransmission (a disruption in the transfer of information between neurons and their targets) and reduced neuroinflammation (an inflammatory response within the brain or spinal cord). Both of these issues lead to the spread of misfolded proteins and neurodegeneration. Study author Craig Lindsley, PhD, Vanderbilt University, describes how momentous the discovery is: “This is a very important moment, as we genuinely have the prospect of not only treating the symptoms of Alzheimer’s disease, including memory loss, but we might actually be able to slow the disease and increase the lifespan of sufferers from neurodegenerative diseases like Alzheimer’s disease.”

Scientists Finally Discover the Cause of a Rare Brain Disease

A rare type of brain disease is one step closer to a cure thanks to new research from the University of Pittsburgh and Kasturba Medical College in India. Hypomyelinating leukodystrophy (HLD) refers to a group of neurologic disorders in which a defective gene does not support the growth and maintenance of myelin (a layer of insulation that surrounds neurons and helps transmit electrical impulses). This causes various neurologic issues, such as impaired movement, memory problems, and vision loss.

Zinc is an essential micronutrient that needs to be transported out of cells to be utilized by the body. Researchers recently discovered that the specific cause of HLD is a mutation in a zinc transporter gene that doesn’t allow that to happen. This discovery gets us closer to a cure for HLD and helps doctors understand more about zinc’s role in brain development and function. Co-author Quasar Padiath, PhD, University of Pittsburgh, is thrilled by the discovery, saying, “finding out that a zinc transporter is really important for proper myelin development could have many clinical implications and offer new ways of treating other related neurological conditions.”

Studying the Brains of Polyglots May Lead to Insights About Language

What’s a polyglot, and what do they have to do with brain research? The term refers to people that speak multiple languages, and researchers think they may be able to reveal important insights into how the brain learns and remembers language. Scientists are curious whether polyglots’ linguistic abilities can be explained by unusual brain activity, so they’re using functional MRIs (fMRIs) to scan their brains and find out.

In one study from the Michigan Institute of Technology (MIT), researchers found that polyglots’ language networks were smaller than those of non-polyglots. Scientists who worked on the study think this could be because polyglots’ language networks are more efficient and require less brain power. Other studies reveal that learning and utilizing language uses more parts of the brain than previously thought. Language is usually considered the domain of the frontotemporal network in the brain’s left hemisphere, but fMRIs show that the right hemisphere also plays a role. Neuroscientists increasingly think that language is a multilayered system that requires multiple areas of the brain to interact. 

Alessandra Rampinini, PhD, a member of the research team at the University of Geneva who is studying polyglots, explains that language processes are also “supported by the memory system, the attention system, and the motor system as well, which makes acquiring language a complex task involving the whole brain.” Studying polyglots will lead to better language teaching methods in schools and improved second-language programs in local communities. Doctors also believe this ongoing research will help treat people who experience language loss due to a brain injury.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. Only through research will we find cures for all brain diseases and disorders. Donate today to make a difference.

At the American Brain Foundation, we are committed to spreading awareness, sharing educational resources, and supporting research across the full range of brain diseases and disorders. As we near the end of 2022, we’re taking time to reflect on all the ways readers like you helped us put our mission into action over the past year—from awareness and education to fundraising and research. 

Below, we highlight some of the things we’ve accomplished this year with the support of our donors, partners, and researchers.

Announced Our 2022 Cure One, Cure Many Award for the Early Diagnosis of Lewy Body Dementia

Earlier this year, we announced the recipients of our 2022 Cure One, Cure Many Award: Owen A. Ross, PhD, Pamela J. McLean, PhD, and Bradley F. Boeve, MD from Mayo Clinic. Their research goal is to identify a blood-based biomarker to aid in the early diagnosis of Lewy body dementia (LBD), the most common form of dementia after Alzheimer’s disease.

Currently, LBD can only be definitively diagnosed with a brain autopsy after death, so identifying a biomarker (an avenue for early diagnosis) is crucial. Investigations into LBD also have implications for other brain diseases like Alzheimer’s and Parkinson’s. 

This $3 million, multi-year research award was offered in partnership with the Alzheimer’s Association, The Michael J. Fox Foundation for Parkinson’s Research, and the American Academy of Neurology. Our 2022 award recipients have extensive experience in Lewy body disorders and have assembled a team of experts across a range of disciplines, including colleagues at the University of Pennsylvania (Dr. David Issadore) and the University of North Texas Health Science Center (Dr. Sid O’Bryant).

Awarded 18 New Next Generation Research Grants

In 2022, the American Brain Foundation funded 29 Next Generation Research Grants, 18 of which were for new research projects from promising early-career researchers. With the support of our donors, these grants support innovative investigations from the next generation of clinical neuroscience researchers, laying the groundwork for new discoveries and advancements in diagnosis and treatment. 

Our 2022 Next Generation Research Grant recipients are researching a wide range of brain diseases, including ALS, epilepsy, stroke, multiple sclerosis, Parkinson’s, Alzheimer’s, Lewy body dementia, and many others.

Our 2022 Commitment to Cures Gala Raised Over $874,000 for Brain Disease Research

In bringing people together to support brain disease research, our 2022 Commitment to Cures event raised an incredible $874,727 to fuel new advancements in the field. During the gala, we recognized people who have made a significant impact in brain disease advocacy and research:

• Seth Rogen & Lauren Miller Rogen received the Public Leadership in Neurology Award. Their organization Hilarity for Charity supports families dealing with dementia and provides education, funding, and in-home relief for caregivers. 
• Susannah Cahalan received the Ambassador Award for her work sharing her experience with anti-NMDA receptor encephalitis through her New York Times bestselling memoir, Brain on Fire, and for her ongoing public advocacy to spread awareness about brain disease. 
• Dr. Stephen L. Hauser received the Scientific Breakthrough Award for his 40+ year commitment to advancing our understanding of the genetic basis, immune mechanisms, and treatment of multiple sclerosis.

If you missed the gala in April, you can watch the full virtual event here. We are looking forward to another incredible Commitment to Cures Gala in 2023!

Launched Peer-to-Peer Fundraising

New in 2022, the American Brain Foundation now offers peer-to-peer fundraising! Peer-to-peer fundraisers allow you to appeal to friends, family, and your extended network to rally support for brain disease research. 

These personal campaigns are a great way for individuals to make a difference by spreading awareness and sharing stories about the impact of brain disease. You can start an ongoing fundraiser, or create a personal fundraising campaign for your next birthday or special event.

Announced a New Research Initiative on Understanding Neuroinflammation

Our upcoming Cure One, Cure Many Award will focus on understanding neuroinflammation and its effect on the formation, symptoms, progression, and treatment of brain disease. The Cure One, Cure Many Award prioritizes research in a series of important but understudied areas. This new award will work to convene patient organizations and neuroscientists to address the urgent need for research in neuroinflammation.

Neuroinflammation is a crucial underlying mechanism in a number of brain diseases, such as multiple sclerosis, brain tumors, epilepsy, Parkinson’s disease, Huntington’s disease, Alzheimer’s disease, stroke, ALS, migraine, and others. Better understanding the connection between neuroinflammation and brain disease has the potential to make a wide-ranging impact. 

Spread Awareness About Brain Disease Through Educational Events With Researchers

One of the Foundation’s priorities is spreading awareness about brain disease. Throughout 2022, we carried out this commitment by offering a range of webinars featuring researchers and brain disease experts.

These virtual events covered the latest advancements in brain disease research and often provided actionable information for attendees. Topics included: Understanding Caregiving and How to Support Caregivers, Knowing the Signs and Symptoms of Brain Disease, Concussions in Sports, Receiving a Brain Disease Diagnosis, and more. 

You can view all of our upcoming events here.

As we reflect on our 2022 accomplishments, the American Brain Foundation also looks forward to continuing these efforts in the year ahead. In partnership with our supporters, we believe that all efforts—large and small—can make an incredible impact and take us one step closer to life without brain disease.

The American Brain Foundation knows that when we find the cure to one brain disease, we will find cures to many others. Learn more about the brain disease research we fund, or donate today to support the cures and treatments of tomorrow.

After a childhood accident left her with a traumatic brain injury, Courtney Fraser dealt with a range of complex symptoms. Her challenging journey toward an epilepsy diagnosis and navigating treatments has inspired Courtney to share her story and help others that may be struggling.

For most of her life, Courtney Fraser has lived with epilepsy, memory problems, and mental health issues like anxiety and depression resulting from a traumatic brain injury (TBI). A few days before her fourth birthday, Courtney experienced a head injury while out on a hike with her family. A tree fell, hitting both Courtney and her father, and while her father’s injuries were relatively minor, Courtney was hit on the head and had to be rushed to the hospital. 

She was diagnosed with a subdural hematoma, which occurs when a blood vessel between the brain and skull is damaged, causing a blood clot that places pressure on the brain. Severe subdural hematomas often cause lasting problems with brain function. Though Courtney didn’t hear the term until she was much older, doctors explained that she had suffered a traumatic brain injury.

Because brain diseases are connected, often diseases and disorders like epilepsy and TBI share linked or overlapping symptoms. In Courtney’s case, doctors told her family that she was at an increased likelihood for developing epilepsy after her TBI—but due to a lack of awareness and education about the specific signs, she went another 11 years before getting an epilepsy diagnosis. For many people like Courtney, uncovering the connections between multiple brain diseases and disorders could mean earlier diagnosis methods and more effective treatments, making the conditions easier to manage.

We spoke with Courtney about how her TBI symptoms and epilepsy affect each other, the difficulties she has experienced finding treatments that are effective for both conditions, and the importance of research and awareness for people living with brain disease. You can read her story below. 

Receiving an Epilepsy Diagnosis

Growing up, Courtney dealt with memory problems and a learning disability as a result of her TBI. She was easily frightened by loud noises—a symptom of PTSD for which she wouldn’t receive a diagnosis for many years—and had sudden lapses of consciousness which, unknown to her family at the time, were actually a type of seizure.

“My family would say that I would stare off into space,” says Courtney. “I wouldn’t respond when they were saying my name.” 

Courtney was finally diagnosed with epilepsy at age 15, after having a seizure and ending up in the hospital while on vacation with her family. It was only after her diagnosis that Courtney and her family realized she had been experiencing absence seizures for years as a result of her TBI.

Courtney’s TBI also caused lasting memory problems. She jokes that she has a “double dose of memory issues” because epilepsy also causes memory complications. Because of this overlap, Courtney now wonders whether some of her TBI symptoms were masking other early signs of epilepsy as a child. It was only recently that doctors officially confirmed the connection between both conditions. After participating in a research study, doctors told her that she most likely had post-traumatic epilepsy (PTE), which refers to recurrent and unprovoked seizures caused by a TBI.

Balancing Treatment for Multiple Brain Diseases

While getting an epilepsy diagnosis was a step in the right direction, Courtney still experienced many challenges. The complex relationship between TBI, epilepsy, and anxiety and depression has made managing her various symptoms especially challenging at times. 

“Trying to balance everything when you have multiple brain issues going on and you don’t know which one’s causing what—it’s so difficult,” says Courtney. She has struggled with anxiety and depression since she was a teenager, often tied to her TBI symptoms or epilepsy. She recalls avoiding normal high school activities like school dances out of fear of having seizures.

Courtney says one of the main difficulties in navigating both TBI and epilepsy has been finding treatments that work for both conditions. Many of her medications for one condition cause side effects that act as triggers for the other, such as difficulty sleeping. Courtney points out that many epilepsy medications “cause trouble sleeping and tiredness—but lack of sleep can cause a seizure.”

The Importance of Awareness and Advocacy

As an adult living with both TBI and epilepsy, Courtney has decided it’s important to share her story. Many brain diseases and disorders don’t have obvious, outwardly visible symptoms and can be difficult to diagnose. By educating people and spreading awareness, Courtney hopes she can help others learn how to better support people living with brain disease. 

She also points to the importance of showing people who are living with brain disease that they are not alone. “As a kid, I thought I was the only one [with epilepsy] because I was the only one at my school, the only one at my church, the only one in my family,” she says. “So I thought, okay, I’m the only one with it.” Only after doing her own research as an adult did Courtney learn how common epilepsy is: 1 in 26 Americans will be diagnosed with the disease in their lifetime. 

Courtney’s research also helped her learn how to better manage her conditions. As an adult, she’s been able to find neurologists that specialize in epilepsy. She emphasizes the importance of finding doctors who truly understand your condition and can offer optimal care. While finding the right medications is an ongoing challenge, today Courtney works with specialists to find the best options to control her seizures with minimal side effects.

Though Courtney’s path has not been easy, it has inspired her to become an advocate for many others like her. Through her own experiences, Courtney knows it’s essential for people to understand seizures and epilepsy in a school setting. That’s why she helped advocate for legislation in Maryland requiring K-12 school staff to be seizure first-aid certified. After three years of fighting for the legislation—called Brynleigh’s Act (Senate Bill 299)—Courtney was happy to see the bill passed earlier this year.

Connections Between Brain Diseases

TBI and epilepsy aren’t the only brain conditions and diseases that have affected Courtney’s life—her grandmother had Alzheimer’s disease. The family noticed that she was often confused and forgetful, but they didn’t know she had Alzheimer’s until she passed away in 2020. Courtney already knew she was at a higher risk for developing Alzheimer’s due to having epilepsy, and having a family history of the disease increases that risk even more. 

Courtney hopes that with more research, doctors can explore potential links between brain diseases like Alzheimer’s, epilepsy, TBI, and others. “There are connections between a lot of these conditions that people don’t realize,” says Courtney. “My grandma also had brain disease—Alzheimer’s and dementia—so she had memory issues just like I do. Seeing her deal with Alzheimer’s made me realize even more that it’s not just people with TBI and epilepsy that have memory issues.” A better understanding of these diseases will make it possible to develop early diagnosis methods and more effective treatments in the future.

Courtney believes brain disease research is crucial not only because it leads to better treatments but also because it educates, promotes awareness, and turns people into advocates. The more people know, the more they care. When asked what she would say to American Brain Foundation donors, Courtney said, “I would say thank you for donating because it does really impact people’s lives.”

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we can all experience life without brain disease.

New brain disease research explores early diagnosis techniques, exciting applications for modern technology, and cutting-edge therapies for degenerative brain diseases like Alzheimer’s.

In this month’s news round-up, we look at innovative early diagnosis methods for dementia and how a new type of ultrasound may reveal important insights about brain function. We also discuss how London cabbies are contributing to Alzheimer’s disease research and how enzyme therapies may be used to treat neurologic disorders in the near future.

Scientists Detect Signs of Dementia as Early as Nine Years Ahead of Diagnosis

New research from the University of Cambridge shows it’s possible to detect signs of impairment from several dementia-related diseases almost a decade before a person receives a diagnosis. Dementia and neurodegenerative diseases—including Alzheimer’s disease, Lewy body dementia, and Parkinson’s disease—are typically diagnosed after symptoms appear. However, the underlying neurodegeneration often starts many years earlier. This is why early diagnosis is crucial in slowing further degeneration and managing symptoms.

For the Cambridge study, researchers wanted to know whether they could detect changes in brain function before neurodegenerative symptoms appeared, so they turned to a biomedical database called UK Biomark. With data from half a million participants, UK Biomark includes health and disease diagnoses, data from problem-solving and memory tests, and other information, such as the number of falls a person has experienced. Scientists looked at people who developed neurodegenerative diseases and analyzed the data from five to nine years before their diagnosis. 

“When we looked back at patients’ histories, it became clear that they were showing some cognitive impairment several years before their symptoms became obvious enough to prompt a diagnosis,” says Nol Swaddiwudhipong, one of the study’s authors. “This is a step towards us being able to screen people who are at greatest risk … and intervene at an earlier stage to help them reduce their risk.”

A New Doorway to the Brain

An emerging technology called ultrafast ultrasound could be the key to a deeper understanding of brain function that leads to early diagnosis of brain disease. Standard ultrasounds work by using high-frequency sound waves to generate images of internal organs and structures within the body. They aren’t often used for brain imaging because the bones in the skull typically scatter ultrasound waves. Additionally, the technology is not fast enough to detect blood flow in the smaller arteries that support brain function.

However, the development of ultrafast ultrasound technology could change all that. Ultrafast ultrasounds can quickly produce sharp composite images of the brain, including identifying areas where blood flow is increased or reduced. This new technology can also track the movement of cells over time, and can even show activity in deep regions of the brain that other types of modern imaging can’t reach. 

With the help of ultrafast ultrasounds, doctors will be able to see which regions of the brain are active or at risk for damage. Neuroscientists predict that with additional advancements, ultrafast ultrasounds will soon aid in the early diagnosis of brain disease.

How London Cabbies Are Helping Drive Alzheimer’s Research

What do cab drivers have to do with understanding Alzheimer’s disease? More than you may expect! London cabbies must go through “the Knowledge,” a rigorous licensing exam proving the drivers have memorized the city’s thousands of streets and landmarks. According to a 2000 study by Eleanor Maguire, PhD, professor of cognitive neuroscience at University College London (UCL), drivers that pass the test appear to have experienced physical changes to their brain structure.

Dr. Maguire found that the posterior hippocampus—the part of the brain associated with spatial navigation and memory—was larger than normal for the cabbies in the study. A decade later, Dr. Maguire conducted a follow-up study that followed drivers for four years as they went through the licensing process. She found that people who passed the exam showed posterior hippocampus growth by the end of the four-year period. Drivers who failed the test and the control subjects had no hippocampal growth. Dr. Maguire’s work proved the capability of adult brains to grow neural networks as a result of learning.

Now a new research team headed by Hugo Spiers, PhD, professor of cognitive neuroscience at UCL, is recreating the study with advanced tools to learn more about the progression of Alzheimer’s disease. “Spatial disorientation appears to be more specific to Alzheimer’s disease [than to other forms of dementia]…The hippocampus, which grows in the brains of these cab drivers, tends to shrink in the early stages of Alzheimer’s,” Dr. Spiers explains. “Understanding which part of the hippocampus gets bigger when navigating may provide insights into how to develop diagnostic tools for detecting Alzheimer’s earlier.” 

Dr. Spiers’ lab utilizes sophisticated MRI technology and a game app designed to test spatial navigation skills. Researchers are hopeful that future versions of the app could be used as an Alzheimer’s disease diagnostic tool and potentially as a means to gauge how well medications are working.

Research Offers Clues for Treating Fatal Neurological Disorder in Kids

Recent research shows promise for slowing brain degeneration in children with Batten disease. Batten disease is a fatal neurologic disorder estimated to affect about three of every 100,000 births in the U.S. Children with this brain disorder appear healthy when they’re born, but within a few years they begin to experience immobility, seizures, blindness, and dementia. The disease occurs due to an inherited gene mutation that causes the absence of an important enzyme crucial for breaking down cellular waste. Without this enzyme, children experience progressive brain damage. There is no cure for Batten disease, and most afflicted children die in early childhood.

All of that could change due to the work of scientists at the Washington University School of Medicine in St. Louis and the Roslin Institute at the University of Edinburgh in Scotland. Their latest research suggests that enzyme replacement therapy may slow brain degeneration. Using genetically modified sheep, the scientists found that monthly doses of the deficient enzyme improved motor function and decreased brain matter loss. While more research is needed, scientists believe these findings can translate into future treatments for children with Batten disease.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. Only through research will we find cures for all brain diseases and disorders. Donate today to make a difference.

Learn more about epilepsy and its connections with migraine.

At the American Brain Foundation, we support whole-brain research across a broad spectrum of brain diseases and disorders. We know that different parts of the brain are interconnected and discoveries in one area of brain disease research will help us unlock important insights into others.

In honor of Epilepsy Awareness Month, we are breaking down some of the connections between epilepsy and a common co-occuring disease: migraine. Epilepsy and migraine are both episodic brain disorders with some similar characteristics, including headache pain and a pre-attack phase called aura. Below we discuss the overlapping characteristics of these two diseases, common treatment options, and the importance of research in expanding our understanding of both.

Is there a connection between migraine and epilepsy?

Epilepsy is a chronic disorder that disrupts nerve cell activity in the brain and causes recurrent seizures without a clear trigger. Only 0.5% of people have epilepsy. Because the cause of epileptic seizures is not typically apparent, doctors cannot make a diagnosis until after a person has had two or more seizures occurring at least 24 hours apart without a known medical cause.

There are different types of seizure disorders associated with epilepsy, both genetic and non-genetic. Seizures may be due to an abnormality or change in the brain or an imbalance in nerve-signaling chemicals. They can also occur in connection with another illness or infection, brain damage, brain tumor, or abnormal brain development.

According to the Epilepsy Foundation, people with epilepsy are twice as likely to have migraine headaches. Migraine is a neurological disease that affects 12% of the global population. The most common migraine symptom is headache, but it can also produce a variety of other symptoms such as nausea, light and sound sensitivity, dizziness, and sensory disturbances (called aura).

People with migraine also have a greater chance of having epilepsy, though they often do not develop epilepsy without another risk factor, such as head injury.

How are migraine and epilepsy alike?

Migraine and epilepsy are both episodic disorders, meaning they are marked by attacks or sudden onset of symptoms—sometimes in response to environmental or biological triggers—followed by periods of recovery in which people can be symptom-free. They can also share some symptoms, such as headache, nausea, and numbness in the face or arms.

Both epilepsy and migraine may involve a pre-symptom period called aura, which can occur before a migraine attack or before an epileptic seizure. Aura is characterized by a series of sensory disturbances—such as seeing sparks, bright lights, and zig zags—numbness in one area of the body, or an inability to speak clearly.

About 25 to 30% of people with migraine experience aura. According to one study, 58% of people with focal epilepsy (seizures begin in one part of the brain) and 13% of people with generalized epilepsy (seizures begin in both sides of the brain) experience aura. The aura symptoms a person with epilepsy experiences can indicate where seizures happen in their brain. Often in the case of epilepsy, the terms “aura” and “simple partial seizure” are used interchangeably because aura occurs as part of a partial (focal) seizure in which a person remains conscious.

Epilepsy and migraine can also have common triggers, including stress, lack of sleep, hormone changes during menstruation, alcohol, and taking too much medication or skipping a dose.

Research shows epilepsy and migraine may share certain genetic or environmental risk factors and similar underlying mechanisms, such as hyperexcitability in the brain. A deeper understanding of these common characteristics could lead to new insights and treatments for both conditions.

Can epilepsy cause migraine attacks?

Epilepsy doesn’t cause migraine attacks, but it can cause headaches. While not all headaches are migraine, headache can be a pre- or post-seizure symptom. About 45% of people with epilepsy experience a headache after seizure activity, or what is known as a postictal headache. Postictal headaches can range from mild to severe and can last from 6 to 24 hours, or even longer.

There is no clear evidence that migraines cause seizures, but headaches may occur before a seizure. Known as pre-ictal headaches, these can be brief episodes of throbbing, steady, or sharp pain. About 20% of people who have seizures that are difficult to control experience pre-ictal headaches. However, seizures may affect a person’s memory of a pre-ictal headache, so it’s possible they are underreported.

In rare cases, headache can actually be a seizure symptom. There are also rare instances where migraine attacks may trigger seizures—a condition referred to as migralepsy. However, there is not yet a clear consensus among researchers about this condition, and more studies are needed. Part of the difficulty is that the difference between postictal headache and migraine—and the difference between an occipital seizure and migraine with aura—can be hard to distinguish.

Can you treat migraine and epilepsy together?

There are medications that may be used to treat both epilepsy and migraine. One example of a medication that can treat epilepsy and prevent migraine is topiramate, which works by reducing the electrical activity in the brain. Other anti-seizure medications are also sometimes used to treat migraine.

It’s also possible to treat epilepsy and migraine by using different medications to treat each disease separately. Your doctor can help you find the right combination and ensure your medications don’t negatively interact with one another or conflict with other medical conditions.

Neuromodulation devices use electrical currents or magnets to increase or decrease brain activity and can be used to treat both migraine and seizures. Some neuromodulation devices are portable, while others require surgical placement. In some cases, doctors may recommend  brain surgery for epilepsy when someone’s seizures cannot be controlled with medication. About 70% of people with epilepsy can control their seizures with medication and/or surgical intervention.

If you have migraine or epilepsy, it’s important to consult your doctor to discuss the best treatment plan for you and your symptoms. Because migraine and epilepsy are connected and share similar characteristics, there is hope that research into diagnosis, treatments, and prevention options for one will help advance our understanding of both brain diseases.

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Learn more about epilepsy, migraine and other brain diseases or make a gift to support brain disease research.

Encourage the spirit of generosity this Giving Tuesday by raising funds for brain disease research and spreading awareness with the American Brain Foundation.

Established in 2012, Giving Tuesday takes place every November on the Tuesday after Thanksgiving. The concept is simple: it’s a day encouraging people to do good and lend their support to the causes that matter to them. Giving Tuesday has grown into a global movement inspiring millions of people to donate, work together, and celebrate generosity. 

The best part about Giving Tuesday is that anyone can participate because we all have something to give, whether it’s time, resources, or support. At the American Brain Foundation, we encourage people to get involved in whatever ways they are able—and remember, supporting people living with brain disease doesn’t have to mean making a big donation. You can also participate in Giving Tuesday this year by sharing information about brain disease, raising funds for brain disease research, or offering support to someone impacted by brain disease.

When Is Giving Tuesday and How Do I Get Involved?

Giving Tuesday is on November 29 this year. So how can you maximize your impact? Start by identifying what you have to offer in the fight against brain disease. It can be anything: social media skills, time spent supporting others, care packages, or raising donations. Once you decide what you’d like to do, share it with the people in your community and personal network. Invite your friends and family to join you, and don’t be shy about posting on social media multiple times on Giving Tuesday to amplify your reach.

Below are some specific ways you can plan to support people living with brain disease on Giving Tuesday.

Make a Donation

Making an individual donation is a great way to support brain disease research on Giving Tuesday. If you feel comfortable sharing that you’ve donated to the American Brain Foundation on social media, this can encourage others to do the same. Sharing why you chose to donate can also raise awareness about the importance of brain disease research. (This is a good practice year-round, not just on Giving Tuesday.)

Start a Personal Fundraiser

Personal fundraisers allow you to share the causes and organizations you care most about with your network of family, friends, and colleagues. Thanks to social media and online fundraising platforms, personal fundraisers are easier to organize than ever. The American Brain Foundation offers peer-to-peer fundraising options through Classy as well as Facebook.

To maximize your support for brain disease research, you can start a personal fundraiser directly through the American Brain Foundation. It’s simple: create your fundraiser, tell your story, share your campaign, encourage your peers, and make a difference. We even offer a fundraising toolkit with expert tips on creating a successful fundraiser.

Join the Brain Squad

If you want to carry your impact beyond Giving Tuesday, consider becoming a Brain Squad member. The Brain Squad is a monthly donation program to support ongoing brain disease research. You can choose an amount to donate each month. 

Why opt for a monthly donation? Donating each month allows you to make a big difference without making a large donation up front. It also ensures continuous support for the doctors and scientists working on critical, long-term brain disease research.

Offer to Help a Caregiver in Your Life

Even if you’re unable to make a donation right now, there are still many ways you can support people living with brain disease on Giving Tuesday. A great way to make a significant impact is by supporting a caregiver in your life. Being a full-time caregiver for someone with brain disease can be very difficult, and caregivers often feel overwhelmed and isolated. Offer your support by stepping in and giving them some time for themselves, helping them connect with support groups, and checking in frequently. You can also brighten their day with simple yet thoughtful gestures, like kind notes and self-care items they’ll enjoy.

Share How Brain Disease Has Affected You

Spreading awareness is another way to support brain disease research on Giving Tuesday. Educating others about brain disease can make a lasting impact, whether you are emphasizing the importance of investing in research, encouraging brain-healthy lifestyle choices, sharing research on how to recognize the signs of brain disease, or connecting others to important support resources. Personal stories often have the most impact, so if you feel comfortable doing so, consider sharing your own story about life with brain disease, how it has affected a loved one, or your caregiving experience.

Start a Community Fundraiser

A community fundraiser is a great way to involve more people in your Giving Tuesday efforts. Gather friends, family, work colleagues, and neighbors to raise money for brain disease, create thoughtful care packages for caretakers, or host an event to educate and spread awareness about brain disease and maintaining brain health. 

You can also honor a loved one impacted by brain disease by working with friends and family to start a fund in their name. At the American Brain Foundation, we can guide you through the process of establishing a donor-advised fund to support critical brain disease research.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we can all experience life without brain disease.

Robert Fisher, MD, PhD, Director of the Stanford Epilepsy Center, discusses the innovative use of deep brain stimulation to help people with brain disease.

Deep brain stimulation is an established and effective treatment for people with certain types of brain disease—and its potential grows with each new study. We explored this topic in a recent webinar hosted by Robert Fisher, MD, PhD, Director of the Stanford Epilepsy Center, and Board Chair David W. Dodick, MD, FAAN. Dr. Fisher explained the benefits of deep brain stimulation, how the technology works, and which specific conditions it can currently be used to treat. He also discussed how cutting-edge research is leading to giant steps forward in treating diseases like Parkinson’s, Alzheimer’s, epilepsy, and more.

What is deep brain stimulation?

Also referred to as DBS, deep brain stimulation involves implanting electrodes in specific regions of the brain. These electrodes are controlled by a pacemaker-like device put under the skin in the upper chest area. They can be used to create electrical impulses that affect certain brain cells and monitor or alter electrical or chemical activity in the brain. They can also be used to regulate abnormal brain activity, such as in the case of recurrent seizures in people with epilepsy.

The History of Deep Brain Stimulation

Dr. Fisher explains that the first recorded example of electrically stimulating the brain occurred in 1874. A Cincinnati surgeon treated a man with a bad scalp infection that had exposed part of his brain. The surgeon wanted to know if removing the infected part of the brain would paralyze the patient, so he electrically stimulated that part of the brain. When he saw the resulting muscle contractions, he knew he couldn’t remove that area.

In the mid-20th century, psychiatrist Robert Heath experimented using electrical stimulation to treat psychiatric symptoms. He implanted wires in various areas of the brain, including the region frequently referred to as the “pleasure center” because it generates rewarding feelings. Some patients did experience positive behavioral changes, but Dr. Fisher emphasizes that this kind of treatment is now considered ethically questionable and rarely used.

A major DBS breakthrough came in the late 20th century due to the work of French neurosurgeon Alim Louis Benabid, MD, PhD. Some brain diseases and disorders are treated with ablative surgery, which removes very small parts of the brain. Dr. Benabid was conducting an ablative surgery for someone with Parkinson’s disease, and electrical stimulation was used during the process. He noticed that this electrical stimulation sometimes quieted tremors during the procedure. 

Benabid decided to experiment with using electrical pulses to stimulate certain parts of the brain to determine if this could be used as a treatment to reduce the frequency and severity of tremors. As technology advanced, researchers found ways to continuously apply this type of electrical stimulation for long periods of time. The result was that DBS became a widely used treatment for Parkinson’s disease and other movement disorders.

How does deep brain stimulation work?

While the earliest methods of deep brain stimulation relied on electrodes being implanted by a surgeon, today, this is normally accomplished through robotics-assisted surgery. The robotic surgical system is programmed to use a 3D MRI of a person’s brain to precisely target the exact areas of the brain where electrodes need to be implanted. Dr. Fisher explains that in addition to this method being highly accurate, it is also about three to four times as fast as a surgeon implanting electrodes by hand. 

Once all necessary electrodes have been implanted into the brain, they are connected by wires to a stimulator module implanted just under the skin in the chest. The stimulator settings can be changed by an external radio programmer paddle, allowing doctors to adjust electrical currents and the stimulation frequency. This allows doctors to fine-tune a person’s DBS treatment and respond to new or changing conditions in the brain.

What diseases and conditions can be treated with DBS?

DBS is commonly used to treat movement disorders, though it’s generally reserved for people whose symptoms can’t be controlled with medication. Parkinson’s disease and tremor are the most prevalent disorders treated with DBS. Dr. Fisher notes that several thousand people worldwide with these disorders have experienced positive results from the DBS treatment. Deep brain stimulation can also treat dystonia and dyskinesia, both of which involve uncontrolled movements caused by involuntary muscle contractions. OCD (obsessive-compulsive disorder), Tourette syndrome, and refractory pain (pain that cannot be controlled by medication and other more conservative therapies) have also been successfully treated with DBS.

Researchers are still exploring the effect of deep brain stimulation on memory loss and Alzheimer’s disease. Dr. Fisher references a study conducted by Andres M. Lozano, OC, MD, PhD, FRCSC, FRSC, FCAHS, Chairman of the Division of Neurosurgery at the University of Toronto, which showed mixed results when using DBS on people with mild cases of Alzheimer’s disease. While brain scans depicted more activity in areas associated with memory after one year of deep brain stimulation, memory tests did not improve overall. However, when researchers broke the study groups down by age, they found that people over 65 did show memory improvement after one year of DBS, while those under 65 stayed the same or got worse.

Brain Stimulation Offers Multiple Ways to Treat Epilepsy

Dr. Fisher explains that one area where brain stimulation has opened up significant possibilities is treating drug-resistant epilepsy. “Sometimes we can’t do surgery because the seizures are coming from a critical speech or movement area or multiple areas…or maybe we can’t pin down where the seizures are really starting,” says Dr. Fisher. “So in those cases [in the past], someone who didn’t respond to medication and wasn’t a candidate for surgery, we would just have to say, ‘sorry, we can’t help you.’”

Because a seizure is essentially “an electrical storm in the brain,” neurostimulation through implanted electrodes now offers doctors the ability to monitor and regulate the abnormal activity that often triggers seizures. Neurostimulation (or neuromodulation) is the alteration of nerve activity by delivering electrical signals directly to a target area in the brain. It’s a broader category of treatment that includes deep brain stimulation. 

Neurostimulation has been used in three main ways to control seizures in people with epilepsy. The first is electrical stimulation of the vagus nerve, which Dr. Fisher explains is not technically brain stimulation. “You don’t actually have to put any wires in the skull or in the brain itself,” says Dr. Fisher. Rather, a modulation device is implanted in the chest (similar to DBS) and wires are connected to the vagus nerve in the neck. The vagus nerve then serves as “a waystation to get the stimulation into the brain,” says Dr. Fisher. Vagus nerve stimulation has shown to be effective over time, but Dr. Fisher says this is not always the most effective way of treating epilepsy with neurostimulation. 

The second method is responsive neurostimulation treatment (RNS). A responsive neurostimulator is a small EEG machine that is embedded in the skull. It continually records brain waves, detecting electrical signals from two leads put over the area of the brain where seizures start. When the responsive neurostimulator senses a seizure starting, it immediately gives a counter pulse of electricity. This method requires doctors to identify the seizure focus area (where someone’s seizures originate from), so it doesn’t work for everyone.

Deep brain stimulation is the third neurostimulation method used to treat epilepsy. Most seizures start in one of two regions of the brain and then travel through an area called the anterior nucleus of thalamus (ANT). Researchers decided to target the ANT with deep brain stimulation to test its effect on seizures. “The control group only had a 14% reduction of seizures versus 40% in the treated group,” says Dr. Fisher, “which was statistically better in favor of the active stimulation.” However, results aren’t instantaneous, and this type of therapy takes time— even months or years—to yield improvement. Dr. Fisher notes that treating epilepsy with deep brain stimulation “requires synapse formation and changes of neurotransmitters and changes of genes—probably even new neuron growth that happens over time—but it does get better.” 

The American Brain Foundation is committed to supporting research across the entire range of brain diseases and disorders, because we know that when we cure one brain disease, we will cure many. Donate today to help us find cures, so that one day we can all experience life without brain disease.

The latest brain disease research reveals breakthroughs in diagnosis methods and promising future treatments for people living with Huntington’s, Alzheimer’s, and memory issues.

In this month’s news round-up, we learn about a brain cell that may be the key to effective Huntington’s disease treatments and a new device that can detect Alzheimer’s disease earlier than ever before. We also look at innovative methods for improving memory function in people with memory loss and how studying circadian rhythms may unlock future therapies for traumatic brain injury.

Brain’s Support Cells May Hold Key to New Huntington’s Treatments

Exciting new research is expanding our understanding of how Huntington’s disease affects the brain, paving the way for future therapies. Huntington’s disease is a fatal genetic disorder that causes the death of a specific type of motor neuron over time, resulting in symptoms such as coordination issues, involuntary movements, cognitive decline, and psychosis. While neuron loss has long been considered the underlying mechanism of Huntington’s disease, new research suggests that defects in glia (vital support cells in the brain) are another key component.

A recent study from the lab of neurologist Steve Goldman, MD, PhD, at the University of Rochester Medical Center (URMC) shows that two types of glia found in the brain may trigger much of the pathology seen in Huntington’s disease. Dr. Goldman explains, “While the loss of neurons gives rise to the symptoms and the ultimate fatal nature of the disease, reversing glial dysfunction may give us an opportunity to intervene early in the course of the disease, keeping neurons healthy for longer and slowing disease progression.” Researchers are hopeful that “fixing” or replacing defective glia cells will be an effective therapy for Huntington’s disease in the near future.

New Device Can Detect Alzheimer’s 17 Years in Advance

It usually takes months after symptoms start to get a definitive Alzheimer’s disease diagnosis—but the latest scientific advancements will soon change that. A research team in Bochum, Germany discovered that Alzheimer’s disease can be detected in the blood up to 17 years before outward symptoms begin to show. This is just one of a number of recent breakthroughs in the early diagnosis and treatment of Alzheimer’s disease, including a June study that showed a single brain scan could detect earlier stages of the disease.

The research team at the Centre for Protein Diagnostics (PRODI) at Ruhr-Universität Bochum used an immuno-infrared sensor to detect a biomarker (a biological indicator) that signifies the misfolding of a protein called amyloid-beta. That misfolding results in deposits in the brain called plaques, which destroy brain cells and cause irreversible damage. Researchers want to use this immuno-infrared sensor to catch the onset of Alzheimer’s disease early and start treatment before toxic plaques can form in the brain. While the sensor is still under development, researchers are working hard to refine it and get it approved as a diagnostic device as soon as possible.

A Memory Prosthesis Could Restore Memory in People With Damaged Brains

A new form of brain stimulation appears to improve memory function by mimicking how our brains encode information. The process, called “memory prosthesis,” involves inserting an electrode in the brain’s hippocampus, a region that plays a crucial role in memory. Researchers first used the implanted electrodes to better understand the electrical patterns that occur when memories are encoded. They then used the electrodes to create similar patterns of activity to stimulate the brain.

Neuroscientist Rob Hampson and his fellow researchers at Wake Forest University School of Medicine in North Carolina tested two versions of memory prosthesis on volunteers. Each volunteer went through short- and long-term memory testing using each version of the memory prosthesis. The team found that memory prosthesis significantly improved volunteers’ performances by 11% to 54%, indicating that this process could be used to help improve memory function. Interestingly, the most significant improvements came from those with the worst memory performance at the experiment’s start. The study also found that the two versions of memory prosthesis had different effects on volunteers, suggesting that customizing the types and patterns of stimulation for each individual may improve results.

While much more testing is needed, this new research is a promising start for treating memory loss in people with brain injuries and perhaps even people living with neurodegenerative diseases. Want to learn more about how this technology offers hope for people with brain disease? Check out our recent webinar on deep brain stimulation.

New Clues Into How the Circadian Clock Helps the Brain Recover After Injury

Traumatic brain injury (TBI) affects an estimated 69 million people each year worldwide. Injuries range from mild concussions to more severe trauma that can cause permanent disability or death. These injuries are currently treated with rehabilitation and supportive care rather than targeted drug therapies, but that could change with new research from Children’s National Hospital.

Many of the body’s cells follow a 24-hour cycle of natural fluctuations known as circadian rhythms. Researchers at Children’s National Hospital have learned that a more recently discovered type of brain cell (called NG2-glia) is also regulated by circadian rhythms. This process helps NG2-glia renew itself—it’s actually one of the few types of cells that continuously self-renew through adulthood. Researchers noted that NG2-glia is abundant in the first week following a brain injury. This discovery provides essential insights into how the body’s internal clock promotes recovery after TBI. Terry Dean, MD, PhD, critical care specialist at Children’s National and the lead author of the study, says, “This will serve as a starting point to further investigate the pathways to controlling cellular regeneration and optimize recovery after injury.”

Stay up-to-date on the latest news from the American Brain Foundation by following us on Twitter and Facebook. With your help, we can create a future without brain disease—donate today to make a difference.

Learn some important ways you can support caregivers of people living with brain disease as well as how caregivers can make time for their well-being.

 

Brain disease impacts millions of Americans—not only individuals with a brain disease but also their family, friends, and caregivers. The American Brain Foundation is committed to supporting research across the entire spectrum of brain diseases and sharing valuable resources. As a part of that commitment, our recent webinar connected attendees with two panelists on caregiving and how to support caregivers. 

The panelists included Bonnie Wattles and Dan Gasby. Bonnie Wattles is the executive director of Hilarity for Charity, a nonprofit organization that focuses on families impacted by Alzheimer’s disease and provides support groups and in-home respite care for caregivers. Dan Gasby is the co-author of Before I Forget, a leading voice for Alzheimer’s disease awareness and caregiver advocacy, and an American Brain Foundation board member.

Becoming a Caregiver

Dan acted as a caregiver for Barbara, his wife of 28 years. “We were two sides of a coin,” he says. “I could look across the room and see Barbara and talk to her with my eyes. I could anticipate what she was thinking, as she could with me.”

But in time, he started to notice something was different. “My wife, who I could talk to by just signaling—it was like things weren’t connecting,” he says. After a number of tests, doctors confirmed that Barbara was having cognitive issues that then developed into Alzheimer’s disease.

Going through this experience with his wife, Dan saw firsthand how having a loved one with a brain disease and becoming a caregiver changes a person’s life. “You’re never going to be the same,” he says. “You really have come to understand that the toughest thing in life—the toughest language to learn—is patience and understanding.”

The journey he went through as his wife’s Alzheimer’s progressed is one many caregivers can understand. “To watch [the life we had planned] flake away and get to that point where you realize it’s not something that could be reversed, and then it goes into that almost surreal, maddening world where the person literally is gone,” he says. “You would keep reaching back and you’d see little glimpses… where you’d see the light and then the light will close.” He shares his story to help others who also find themselves walking this difficult journey.

Caregiving as a Public Health Issue

The current need for caregiving is significant and growing. Bonnie Wattles notes that today, there are about 48 million individuals caring for an adult family member or friend. Of that 48 million, 11.2 million caregivers are caring for somebody with Alzheimer’s or other dementias. That number is expected to triple by 2050.

In her work with Hilarity for Charity, Bonnie recognizes how overwhelmed and unprepared many caregivers feel. They have to balance many different demands as they learn about their loved one’s disease, coordinate responsibilities with siblings or other family members, try to understand their caregiving role, and navigate a complex healthcare system.

Caregivers need tools and resources, especially when it comes to addressing the financial burden of ongoing medical care. Referencing a recent AARP study, Bonnie notes that 8 out of 10 people surveyed said they are going into their own pockets to cover the cost of daily caregiving. The survey found that the typical annual total for out-of-pocket caregiving costs is $7,242. Many caregivers also have to take time away from work or shift to part-time, dip into savings, or cut back on retirement contributions.

An Emotional Rollercoaster

Caregiving requires patience, self-sacrifice, and commitment. The emotional ups and downs can be grueling. “There’s not a day or a week or a moment that you don’t go through the situation saying, ‘why me?’” says Dan. “Why am I missing all of the things that I should naturally be able to do? Why am I having to take care of changing sheets, watching someone destroy things, watching someone lash out?”

Dan recalls having to hide his emotions from his wife when she’d ask if he was okay, noting that these conflicting feelings are part of the caregiving process. “The toughest thing about being a caregiver to me was I couldn’t wait to get away, and when I was away, I couldn’t wait to get back,” he says.

Both Dan and Bonnie encouraged people to talk to their loved ones who have been diagnosed with brain disease and sort out a plan for caregiving before the need comes up, especially as it can impact family dynamics. “In many family situations, it’s not the person who steps up. Everybody steps back and you’re left as the caregiver,” Dan says. He has seen how family members who choose to step back often speak up to comment and critique the caregiver, adding further negativity to a difficult situation. 

The heavy emotional burden of caregiving can lead to mental health issues for caregivers, such as anxiety and depression. This is something Bonnie and Hilarity for Charity want to normalize so caregivers know they aren’t alone. “We’re hoping to create a narrative that people aren’t afraid to get help,” she says. “We need to keep sharing our story and normalizing this conversation so that people can feel supported.”

Dan points out that the responsibilities of caregiving can even affect caregivers physically, as they often tend to not take care of themselves, which can lead to becoming sick more often and taking longer to recover and heal.

Caring for Caregivers

One of the best ways to support caregivers is to give them time for themselves. Support from others can allow caregivers to share the burden of caregiving responsibilities and recharge. 

Hilarity for Charity recently surveyed its caregiver grant recipients and support group members from the past decade. The survey found that respite can improve the quality of care that a caregiver provides. It also alleviates stress, reduces feelings of isolation, and helps caregivers feel more physically and emotionally prepared for the caregiving journey.

While he was caring for his wife, Dan found different ways to relieve his “pressure cooker” of emotions. “You have to have the ability to find things that allow you to decompress,” he says. He would go to the beach and scream, hit a punching bag, or run up hills to let off steam. “I did a lot of stuff because [caregiving] is a thankless job.” He suggests exercise, meditation, and quick naps as helpful ways to recharge.

Dan also emphasizes the importance of a support system. He’s seen that caregivers can’t always rely on their family members, as some may be unable or unwilling to help. That’s where trustworthy friends, resources, and organizations can provide support—and where each of us can step up.

Supporting Brain Health and Research

Both Dan and Bonnie also touched on how crucial it is for people to understand the importance of taking care of their brain health. Research has found that as many as 40% of cases of dementia in Alzheimer’s could be preventable. Because of this finding, Bonnie stresses the importance of caring for our brains from early on in life through exercise, nutrition, quality sleep, being socially and cognitively engaged, and taking care of other health risk factors.

Dan echoes this imperative to take our brain health seriously. “We take the brain for granted,” he says. “If the body was a car—your eyes are headlights, the engine’s your heart, and you can go through all the other body parts—but the one thing that makes a car go is the driver… and the brain is the driver.”

With the growing need for caregiver support, it’s crucial to bring awareness and attention to this issue. “We have to change the narrative around aging,” says Bonnie. “We have to value aging and value caregiving.” These types of conversations can help spark more funding, support, and educational programs for caregivers.

As we continue to shine a light on brain disease, the American Brain Foundation believes in supporting caregivers. A caregiver’s role is physically, financially, and emotionally demanding. It’s important to understand this journey and the challenges caregivers face so we can provide support and respite.

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. Learn more about brain disease or make a gift to support groundbreaking brain disease research.

Ben LeNail and Justine Fedak share their experiences living with brain disease and how they were able to cope and find strength in the face of their diagnoses.

Millions of people and their loved ones will be impacted by a brain disease diagnosis at some point in their lives. That’s why the American Brain Foundation is committed to research across the entire spectrum of brain diseases and disorders. We know curing one disease will lead to curing many. 

We also believe in providing support and resources for people living with brain disease. In our recent webinar, we invited two inspiring speakers to share their first-hand experiences of receiving a brain disease diagnosis. 

Our panelists included Ben LeNail, a biotech investor, rare disease activist, and vice chair of the board of the American Brain Foundation, and Justine Fedak, a marketing executive and motivational speaker. They shared their stories about living with brain disease and offered hope and advice on coping with a diagnosis.

The Journey to a Diagnosis

About 16 years ago, around age 40, Ben LeNail started experiencing a number of neurologic symptoms for which doctors could find no immediate cause. It took two years and countless tests before he was diagnosed with a rare brain disease caused by a single gene mutation: X-linked adrenoleukodystrophy (ALD).

Justine Fedak was diagnosed with multiple sclerosis (MS) at age 31. She first experienced symptoms during an episode in which she lost feeling in her toes and legs. Within 48 hours, she was completely paralyzed. She underwent a series of tests and was quickly diagnosed with MS.

Justine remembers feeling a mix of fear, disbelief, and helplessness. She had never heard of MS and was told she’d probably never walk again, so the diagnosis was frightening and confusing. “I had to go on quite a journey of learning,” she says. “What did this disease mean for me? And what would it mean long term?”

Ben, on the other hand, felt a combination of relief and terror—relief at finally landing on a diagnosis and terror at the bleak prognosis he found when researching his disease. He soon learned there are different types of ALD and that there are things a person can do to slow the progression of the disease. This gave him hope and the motivation to learn more.

Finding Hope in Knowledge and Community

Because his disease was so rare, Ben started to do his own research and reached out to some of the lead authors of published studies for more information. One researcher based in Paris responded and invited him to an upcoming meet-up of 300 people with ALD. “I found myself surrounded by a sea of wheelchairs and people on feeding tubes and respirators,” he says. “I was absolutely terrified, but I had to mobilize myself to go in and talk to people and make friends… That was kind of the first step in really entering this community.”

It took several years, but Ben found hope in that sense of community and the chance to hear from people with ALD who were thriving in life. He also took comfort in learning about current and ongoing research, including the fact that a number of biotech companies were working on drug discovery, therapeutic programs, and clinical trials.

Two specific interactions eventually sparked hope for Justine. “I had two people give me the opportunity to get back into my own body—even though my body was changing and was different—to empower me to be who I was,” she says.

While she was still in the hospital, Justine’s brother, a cardiac surgery resident, visited her on his hospital rounds. He encouraged her to take control of her situation and learn everything she could about MS. “He sort of put me on notice that it would be my responsibility to be my own advocate,” she says. “And that appealed to me—I could empower myself with knowledge.”

Justine had started to think about going on disability leave, not seeing any possibility of a future in her career, when a senior colleague at her company told her, “Nothing about you has changed, you just feel differently about yourself. You are the exact same person. Your ability to deliver your work product is exactly the same.” These words encouraged her to continue working and to re-find a sense of self in the midst of her diagnosis.

Advocacy as a Way Forward

In the beginning, Justine and Ben had to wrap their minds around their diagnoses, specifically how different their lives were going to look from what they had always expected. Over time and with support from others, Ben and Justine both found themselves eager to learn more about their respective diseases and become advocates for others in their communities.

When Justine regained some of her mobility, her friends invited her to participate in a community walk to raise awareness and support for MS research. After raising about $50,000 for the event, Justine was recognized as a top fundraiser for the National Multiple Sclerosis Society.

“That reminded me that, even if I can’t move around, I still have so many other things I can contribute,” she says. “That shifted my mindset, and that’s when I said, ‘you know what, I’m going to advocate.’”

With his neurologist, Ben started a foundation to research and advocate for ALD. Part of this advocacy included lobbying to have the disease included in the standard newborn screening panel. Now, more than 60% of newborns are screened for the disease, leading to early diagnosis, better monitoring, and improved treatments. He also became a biotech investor, investing in assistive devices and drug discovery companies that help people with brain disease. 

Ben also works with young men diagnosed with ALD to help them accept their diagnoses and overcome the significant changes the disease brings to their lives. “[ALD] really takes away a lot of what we would characterize as typical male attributes—strength, vitality—and a lot of young men who are diagnosed become very despondent,” he says. He has become a mentor and source of encouragement for other men with ALD, promoting exercise as a way to stay mobile and active.

Staying Strong

Like Ben, Justine believes regular movement is important for keeping physically and mentally strong. Even as her disease limited her mobility and created the need to use a cane at times, she has continued to stay active in any way she can. This helps her remain positive and reminds her not to give up on herself even though she can’t always do things the way she used to. “There are small triumphs, but they’re hugely impactful, and we ourselves need to remember how important those tiny triumphs are,” she says.

Justine also says it can help to focus on the progress researchers are making and ways this progress impacts your daily life. For example, since her diagnosis she has seen an increase in the types of medications that are available to manage her MS. “Research has helped the medical profession, the researchers, and many academic professionals to find different solutions that make the disease much more manageable, so I do think that it’s important to remember that progress is there,” she says. 

She and Ben remain hopeful that further research will yield improved treatments, identify more lifestyle changes that can help people living with brain disease, and find cures. “What I’m excited about—and I think the American Brain Foundation is very much part of that—is identifying new talent, new ideas, young investigators who can think out of the box,” says Ben. “I think we’re on the cusp of some amazing breakthroughs for neurological disease.”

Both Justine and Ben hope to play a role in these breakthroughs by supporting research and sharing their stories as a source of strength for others living with brain disease. Receiving a diagnosis allows people to form a treatment plan and learn about symptom management, connect with support networks of other people living with the same disease, find doctors with specialized knowledge, and establish a way forward.

“You tend to lose yourself in the terror of [the diagnosis], but we’re examples of people that have thrived,” says Justine. “That doesn’t mean that there aren’t difficult times, but it means that you remember who you are and more about yourself than the diagnosis.”

The American Brain Foundation is committed to finding cures for all brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

Learn five important ways caregivers can help their loved ones with SMA while also making time for their own wellness.

August is Spinal Muscular Atrophy Awareness Month. Spinal muscular atrophy (SMA) is a progressive, hereditary brain disease that damages and destroys nerve cells in the brain and spinal cord. Over time, SMA causes a person’s muscles to weaken, develop twitching movements, and atrophy, resulting in limited mobility.

Because there is no cure for SMA, caregiving and treatment mostly involves managing symptoms, which often requires daily around-the-clock care. Below, we offer tips for caring for someone with spinal muscular atrophy, including the importance of caregivers having their own support network.

Can spinal muscular atrophy be treated?

The most common form of SMA is classified into four types, which relate to the age of onset and severity of symptoms: Werdnig-Hoffmann disease, or SMA Type I; Dubowitz disease, or Type II; Kugelberg-Welander disease, or Type III; and Type IV. For all but Type IV, symptoms begin in childhood.

Spinal muscular atrophy treatment mainly involves medications and therapies to manage symptoms and prevent complications. Respiratory or breathing problems are the top cause of illness for people with SMA and the most common cause of death for children with Type I and II SMA.

A person’s required level of care varies depending on their ability to move their arms, legs, face muscles, and chest, as well as how SMA impacts their ability to speak, walk, breathe, and swallow. Caregivers and families with a child with SMA often have to help manage breathing, nutrition, movement, and daily activities.

Caregivers may also organize physical and occupational therapy sessions and assist with stretching and strengthening exercises. They may need to offer help with special ventilation equipment or assistive devices like wheelchairs and braces. These tasks are challenging and demanding, both physically and emotionally, and may require special preparation or training.

Familiarize Yourself With Assistive Technology and Equipment

Assistive technology and equipment can help people with SMA retain a level of autonomy and independence, and in some cases can help people stay mobile to slow the progression of muscle atrophy. When providing care for a person with SMA, you will likely need to learn how to use these types of assistive medical equipment. This may include manual or power wheelchairs, adaptive strollers, car beds (to allow someone to lie down while traveling), or standers for people who aren’t able to stand independently. 

Depending on a person’s individual needs, you may also have to help with a cough assist machine and a suction machine to clear their airway and remove cough secretions. Other medical equipment commonly needed to care for someone with SMA includes feeding tubes, pulse oximeters to monitor oxygen levels, and bilateral positive airway pressure (BiPAP) machines, which help inflate the lungs with air when a person inhales.

Create an Adaptive Home Environment

When caring for someone with SMA, you will need to know how to adapt your home environment to be more accessible. In addition to addressing some common safety concerns, an adaptive environment is empowering for people with SMA because it helps them maintain autonomy and independence. Certain modifications can help people with SMA feel more comfortable or provide a chance to practice therapeutic activities. 

Here are some ways to consider making your home more accessible:

• Floor plan modifications like ramps, wide open spaces to move through, smooth flooring for wheelchair mobility, and longer faucets that make it easier to reach and use a sink
• Adaptive seating, including adaptive toilet seats in the bathroom
• Specific brands of everyday items that are easier to use, open, or move
• Placing items within reach or bringing a surface into closer range, like using a lapdesk in place of a table or a basin instead of a sink

Learn About Your Care Team

A person with SMA often receives a range of treatments and therapies, which means they work with multiple specialists, therapists, and other caregivers. It’s important to understand the specific role each specialist and care provider plays in their treatment plan. The care team will include a lead doctor—typically a neurologist or neuromuscular specialist—who is an SMA expert and acts as a point person for other providers. 

Depending on their individual needs, someone with SMA may also have a pulmonologist who helps with breathing issues, a gastroenterologist for feeding-related difficulties, an orthopedist for help with postural issues like scoliosis, and physical, occupational, and speech therapists. A nutritionist or registered dietician can provide diet recommendations to promote healthy weight gain and protect bone health.

As a caregiver supporting a person with SMA, you are an important member of this care team. Maintain open communication with each provider and know who to reach out to when you need to discuss particular symptoms, treatment options, and ways to prevent complications. You may also need to schedule appointments and coordinate transportation or arrange for in-home care.

Stay Updated on Current Research and Treatment Options

Research on SMA is ongoing. Your child or loved one’s care team will have access to new discoveries and breakthrough studies, but as a caregiver you can also stay updated on current research and treatments. This knowledge better enables you to ask informed questions, discuss new options with your care team, and act as an advocate.

For example, Jerry Mendell, MD, FAAN, 2019 recipient of the American Brain Foundation’s Scientific Breakthrough Award, led research that uncovered a one-time treatment for children with Type I SMA. This gene replacement therapy stops the progression of the disease, so administering it as soon as possible is crucial.

Find Ways to Prioritize Your Own Wellness and Support

Caring for someone with SMA requires a huge investment of time and effort. That’s why it’s essential for caregivers to have a strong support network of their own and ways of maintaining their own mental health and well-being.

If you’ve transitioned into a caregiver role, know that you are not alone. Friends, family, in-home caregiving staff, and specialists on the care team are all a part of your network. In order to have the energy to help others, you need to take time for yourself to recharge and focus on self-care. Recognize your personal strengths, and don’t be afraid to ask for help or delegate responsibilities to others.

If you’re looking for ways to support caregivers in your life, reach out and let them know the specific ways you are able to help. Whether you can step in to provide basic care or you’re able to fill out paperwork or schedule appointments, giving a primary caregiver a break to take time for themselves can be a huge help. You can even just offer to take a basic task off their plate like cleaning, cooking, or running errands. This kind of support for caregivers can make a huge impact.

The American Brain Foundation is committed to finding cures for brain diseases. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

New brain disease research reveals promising early diagnosis and treatment methods for diseases like Parkinson’s and Alzheimer’s.

In this month’s brain news roundup, we look at how exciting new research is giving us a deeper understanding of Alzheimer’s and Parkinson’s disease. We also discuss the impact of genetic testing on brain disease and review a groundbreaking study about vitamin D and dementia.

Researchers Identify Chemical Compound That May Short-Circuit Brain Cell Death in Parkinson’s Disease

Promising new research has identified a chemical compound that could prevent the most damaging effects caused by Parkinson’s disease. Parkinson’s is caused by a buildup of misfolded proteins in the brain. As the misshapen proteins clump together, they kill brain cells responsible for creating dopamine, leading to impaired movement and cognition. Previous studies revealed that brain cell death is ultimately caused when a protein called parthanatos associated apoptosis-inducing factor nuclease (PAAN) destroys the cells’ DNA. However, PAAN also has several important functions in the brain, so it’s crucial that any Parkinson’s treatments targeting this protein keep those functions intact.

Researchers screened thousands of chemicals in the Johns Hopkins Drug Library for any that would block PAAN from breaking down DNA molecules. After extensive testing, they identified one chemical (PAANIB-1) that can prevent brain cell death without affecting the PAAN protein’s other crucial functions. Researchers plan to continue screening for more chemicals that can safely block PAAN’s role in brain cell death. This is an exciting lead in the search for improved methods of treating Parkinson’s and other neurodegenerative diseases. 

Learn more about this pioneering study and its impact on brain disease research.

“Reverse Engineering” Brain Tissue Reveals Sugar-Studded Protein Linked to Alzheimer’s Disease

Johns Hopkins Medicine researchers have discovered a sugar molecule that may play a key role in the development of Alzheimer’s disease. If further research confirms their findings, knowledge of this molecule could affect diagnostic tests, treatments, and potentially even Alzheimer’s disease prevention.

Alzheimer’s disease occurs when nerve cells in the brain are killed by a buildup of harmful proteins. Normally the brain’s immune cells routinely clean up these proteins, but this process is impaired in people who have Alzheimer’s disease. This impairment can be caused by too many molecules called glycoproteins connecting to the receptors on the immune cells. In order to find out which glycoprotein causes this issue, researchers studied brain tissue from five people who died of Alzheimer’s disease and five people who died of other causes. This allowed them to identify the specific glycoprotein active in the development of Alzheimer’s.

“Identifying this unique glycoprotein provides a step toward finding new drug targets and potentially early diagnostics for Alzheimer’s disease,” says Anabel Gonzalez-Gil Alvarenga, PhD, postdoctoral fellow in the Schnaar laboratory and first author of the study. Researchers plan to further study this glycoprotein to learn how it interacts with immune cells in the brain. 

Learn more about this groundbreaking new research.

Genetic Testing May Influence Treatment of Neurologic Disorders

Recent advancements in genetics research are helping doctors study, diagnose, treat, and manage brain diseases and disorders in new ways. “Up until recently, genetic testing has been underused in neurology, especially for adult diseases,” says Lola Cook, a genetic counselor in the department of medical and molecular genetics at the Indiana University School of Medicine in Indianapolis. “Now we are beginning to learn more about major gene variants as well as multiple minor changes that make genetic contributions to a wide range of neurologic disorders.”

There are two categories of genes that affect whether someone may develop a disease. Causative genes are responsible for the actual development of a disease, while risk genes can increase the likelihood of a disease developing under certain conditions. For now, genetic testing is most effective when used to identify individual causative genes. This can aid in diagnosing conditions like SMA, fragile X, and Huntington’s disease, which are caused by changes in one gene. Confirming a genetic diagnosis can improve someone’s prognosis and let family members know about their risk of also carrying the gene. 

Currently, this type of genetic testing is less helpful for neurologic conditions like Parkinson’s disease, multiple sclerosis (MS), and Alzheimer’s disease because these conditions are more often caused by variants in multiple risk genes than a single causative gene. Researchers are still learning how different gene variants may cause neurologic disorders and how genetic testing can improve diagnosis and treatment.

Learn more about genetic research and its effect on brain disease.

Links Between Vitamin D Deficiency and Dementia

Dementia affects more than 55 million people worldwide, causing a range of cognitive and behavioral problems for those affected who suffer from any of its forms (such as Alzheimer’s disease and Lewy body dementia). However, new research could have a big impact on these neurodegenerative conditions. A recent study from the University of South Australia showed a direct link between dementia and insufficient vitamin D. Utilizing genetic research, the study found that low vitamin D levels were associated with an increased risk of dementia and stroke. Researchers found that in some populations, as much as 17% of dementia cases could be prevented by increasing vitamin D levels.

“Dementia is a progressive and debilitating disease that can devastate individuals and families alike,” says Professor Elina Hyppönen, senior investigator and director of UniSA’s Australian Centre for Precision Health. “If we’re able to change this reality through ensuring that none of us is severely vitamin D deficient, it would also have further benefits and we could change the health and wellbeing of thousands.”

Learn more about this encouraging new study and what it may mean for dementia prevention.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. You can help us create a future without brain disease. Donate today to make a difference.

Learn about what’s being done to reduce and treat concussions in sports as well as the innovative research and policy changes that are making a difference.

Sports-related concussions are a major concern for student and professional athletes alike—but can they be prevented? We hosted a panel discussion that delves into this challenging issue and the steps being taken to address it. Board Chair David Dodick, MD, FAAN and Sean Sansiveri, Vice President of Business and Legal Affairs for the National Football League Players Association, discussed the efforts being made to better understand concussions and their long-term consequences. The panel reviewed current research strategies and policies that are working toward actively reducing concussions in sports.

What is a concussion?

A concussion is a traumatic injury to the brain that disrupts its normal function. Dr. Dodick explains that the terms concussion and mild traumatic brain injury are used synonymously because “concussion really means the emergence of symptoms as a result of a traumatic brain injury.” He points out that concussions are both complex and microscopic, which means they cannot be detected on a normal MRI or CT scan. This presents a challenge: if symptoms are hidden or absent, a concussion may go undiagnosed.

A subconcussive impact is a blow to the head that does not cause symptoms but may still affect the brain. According to Dr. Dodick, “We’re becoming increasingly aware now that these repetitive subconcussive hits may cause cumulative damage that may be more injurious to the brain than hits that give rise to symptoms.” That’s because repetitive subconcussive hits can still cause a breakdown of the blood-brain barrier, which can lead to a whole host of neurologic issues. But because an individual may not have any symptoms, they may not realize there’s a problem—leaving them undiagnosed and untreated.

How long do concussions last?

In the least serious cases, concussion symptoms may subside within a matter of days or even hours, though you should always consult with a doctor before returning to normal activities. Most people will recover from a concussion within several weeks. However, 15-20% of people who experience a concussion will develop persistent post-concussive symptoms. Persistent post-concussive symptoms are generally defined as symptoms that continue three months after the injury occurs. These symptoms can include headaches, dizziness, fatigue, trouble concentrating, and memory problems, as well as changes in mood, behavior, and appetite. These symptoms will eventually improve for most people, though it can sometimes take months or years.

People who have experienced multiple concussions or subconcussive hits are more likely to experience persistent post-concussion symptoms and can take longer to recover. The time interval between concussions or subconcussive hits is also a factor. Dr. Dodick explains, “it’s quite clear that if you experience a concussion today and you experience another concussion within the next couple of weeks before your brain has had a chance to completely recover… the injury can be more significant and the symptoms can be longer-lasting.”

How common are concussions in sports?

The World Health Organization (WHO) reports that worldwide, there are about 69 million traumatic brain injuries per year. Of those injuries, 56 million are considered mild and are classified as concussions. We know that the vast majority of those concussions are accidents that occur during everyday activities. While it’s difficult to pinpoint the exact percentage that take place during sports, it likely amounts to several million concussions per year. That number likely grows even higher when you factor in how many concussions go undiagnosed.

Concussion Diagnosis and Treatment

Dr. Dodick is optimistic about the future of detecting and treating concussions: “The bad news about concussion is we don’t yet have a diagnostic test… we’re getting closer though.” Diagnosing a concussion currently requires a doctor to evaluate a person’s symptoms. Dr. Dodick suggests that medical training should include “more emphasis on recognizing traumatic brain injury in general and concussion in particular.” He also notes that follow-up appointments are crucial after a head injury to address any new symptoms and ensure a proper diagnosis.

While there isn’t a specific treatment for concussion, the medical community has still made positive advancements. Dr. Dodick explains, “we do know a lot about what’s happening in the brain, and therefore we have targets where we can design treatments specifically to treat the biology of concussion.”

While individuals with concussions used to be prescribed bedrest in a dark room, research has revealed that “when you institute aerobic exercise quickly after a concussion, it leads to faster recovery.” In even more promising news, a forthcoming study found that this practice “can actually reduce the development of post-concussion syndrome… by more than 35%.”

Reducing Concussions in Sports

Mr. Sansiveri, who serves as Vice President of Business and Legal Affairs for the National Football League Players Association (NFLPA), explains that their approach to reducing concussions is simple: they follow the science. Since 2010, substantial investment in research and testing has helped generate knowledge and insights that are actively helping to prevent brain injuries in sports.

Take football helmets, for instance. “We laboratory test every single helmet and validate these results with on-field performance and injury rates,” explains Mr. Sansiveri. “This has led us to ban certain poor performing helmets…. And it has resulted in a great deal of innovation by the helmet manufacturers themselves.” This helmet innovation has decreased the amount of concussions experienced by both professionals and amateurs playing football, and it has the potential to affect those playing other sports that require helmets as well.

The NFLPA is also in its fourth year of an innovative program in which players wear mouth guards with sensors. Mr. Sansiveri explains that the sensors are “designed to understand impact forces related to concussion and ultimately create position-specific helmets.” The data provides insight that even the most dedicated football coach is unable to observe. Mr. Sansiveri shares a recent example: “This past year, we learned that offensive linemen experience more rotational forces than defensive linemen, something we never would’ve known without investing in this program. This data will ultimately allow us to spur innovation and create more effective safety equipment.”

Science is the driving factor behind advancements in protective equipment and National Football League (NFL) rule changes that impact player safety. By updating rules to eliminate certain types of contact, a player can be saved from thousands of hits during their career. The NFL isn’t the only sports association making major changes either. Recent data suggests that most concussions during a college football season take place during the preseason, and at practice in particular. As a result, the National Collegiate Athletic Association (NCAA) enacted policy changes to reduce the number of practices and preseason games.

Other sports are making changes as well. Mr. Sansiveri points out that for soccer and ice hockey, “there have been some policy decisions made where they’ve minimized or eliminated contact until kids hit a certain age. Usually, it’s around the age of 14. So in soccer, for example, and in ice hockey, you can’t body check or you can’t head the ball until the age of 14.”

The NFLPA continues to invest in medical research designed to understand concussions and their effects, including studies about neurodegenerative disease progression. The organization also directly invests in innovative treatments like near-infrared light treatment and antibody therapy. These investments will have a much broader reach beyond professional football, resulting in positive advancements for the entire field of brain research.

Why More Research Is Crucial

There is still much to be done to improve our ability to diagnose and treat concussions, but there are many reasons to be optimistic. Dr. Dodick is excited about the future of biomarkers, a biological indicator that can signal how the body will respond to a treatment or condition. He hopes that one day a blood or saliva sample will quickly be able to identify when a person has a higher risk of issues with delayed recovery, persistent post-concussion symptoms, and long-term neurologic deterioration. This will improve diagnosis and allow doctors to offer a much more accurate post-concussion prognosis.

Dr. Dodick is adamant that the medical community needs to be “much more aggressive in coming up with therapeutics that actually treat the injury at the point of contact” in order to minimize the damage triggered when the injury occurs. Discovering a way to repair or protect the blood-brain barrier is vital, as this would help mitigate damage from inflammation that can continue for days, weeks, or even months after the initial brain injury.

Concussion research will inevitably lead to important discoveries about other brain diseases as well. Dr. Dodick explains that current data “shows a correlation between concussions and an increase in subsequent seizures in those who have suffered concussions.” While we know that seizures and epilepsy can develop after a mild brain injury, we don’t know who is at risk or how to minimize that risk. With more research, we can prevent higher-risk individuals from developing more serious conditions after a concussion and learn more about other brain diseases in the process.

At the American Brain Foundation, we invest in research across the whole spectrum of brain disease. When we cure one brain disease, we will cure many. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.

In honor of this year’s World Brain Day, we’re sharing four simple ways to nurture your own brain health every day.

This year, July 22 marks the 9th annual World Brain Day. Sponsored by the World Federation of Neurology (WFN), World Brain Day brings awareness to the importance of brain health and promotes prevention, advocacy, education, and access to resources and treatment. 

In honor of this year’s theme, “Brain Health for All,” we’re focusing on ways education and awareness of brain disease can lead to better prevention and access to treatment. Below, we’ve outlined four simple ways you can prioritize your own brain health and support others who are dealing with brain disease.

Get Plenty of Sleep

Research has linked sleep disturbances, such as fragmented sleep or frequent night wakings, to an increased risk for neurodegenerative diseases like Parkinson’s and Alzheimer’s. Additionally, studies have found that 41% of people with Parkinson’s disease experience REM sleep behavior disorder—in which they physically act out dreams—prior to their diagnosis.

Sleep is crucial to brain health both in quantity and quality. It’s a two-way relationship: Our brains and bodies regulate our sleep patterns, and sleep affects our brain health and body functions. When we get plenty of high-quality sleep, research shows that our brains may be able to prevent the toxic buildup of amyloid plaques, a protein found to accumulate in people with Alzheimer’s. Because of these findings, addressing sleep disturbances and managing circadian rhythms may help alleviate symptoms of Alzheimer’s and other brain diseases.

The general amount of sleep recommended for adults is 7 to 8 hours per night. However, it’s also important to consider when you sleep. Daily shifts of light and darkness affect our sleep and wake cycles, circadian rhythms, and energy levels. A regular sleep-wake schedule and appropriate timing of light exposure, eating, and activity will help your body stay in rhythm and promote quality sleep.

Take Proper Precautions Against Head Injuries

Even when they might not seem severe at the moment, head injuries can contribute to a range of brain diseases and disorders. Brain and spine trauma can range from mild to severe and can contribute to the formation of more serious disorders later in life. For example, chronic traumatic encephalopathy (CTE) is a neurodegenerative disorder that has been linked to repetitive head impacts, even ones that do not result in diagnosable symptoms of concussion. Research has also found that Alzheimer’s disease could be caused by damage to the protective barrier in the brain.

Taking everyday precautions against head injury will help to protect your brain health. Steps like wearing a seatbelt or a helmet are important for preventing brain injury. When playing sports, be sure to follow all safety rules and make sure to have a concussion plan in place in advance. For children, use age- and size-appropriate car seats and ensure they are properly installed. You can also help prevent falls by using safety features like high chair straps and stair gates.

Incorporate Exercise Into Your Weekly Schedule

Maintaining a regular exercise routine is one of the most effective ways to promote brain health. While it has many benefits overall, aerobic exercise may activate beneficial genes in the brain and help with memory. Additionally, research shows that people who are physically active are less likely to have a decline in their mental function and have a lower risk of developing Alzheimer’s disease. 

Doctors believe these brain health benefits are tied to the increased blood flow to the brain during exercise. This increased blood flow may also help counter some of the natural breakdowns in brain connections and functioning that happen as we age. For this reason, it’s helpful to choose physical activities that increase your heart rate, and build up to doing 30 minutes of moderate-intensity exercise multiple days per week. Aim for a total of at least 150 minutes per week.

Keep Your Mind Active

Think of the brain as a muscle: To keep it in shape, it’s important to stay mentally active. Hobbies and personal interests, social engagement, and learning new things can all have a positive effect on brain health. Engaging your brain in new ways—such as doing puzzles, reading, and playing cards—helps keep your brain active.

Our mental health and brain health are also connected. In fact, depression and stress may contribute to memory loss. Regular social interaction can help improve mental health and promote healthier ways of dealing with stress, so make time to connect with friends and family whenever possible, especially if you live alone.

Studies have also found that art and music therapies have multiple benefits for people who have already developed neurodegenerative diseases like Alzheimer’s and Parkinson’s—in part because they help engage different areas of the brain. Activities like riding a bicycle, dancing, and boxing have been found to activate uplifting emotions and a sense of reward, generating positive effects and aiding in symptom management for people with Parkinson’s.

Some of the above everyday actions can play an important role in keeping our brains healthy and active. Beyond taking care of your own brain health, you can also make a difference by offering support to caregivers and family members of people living with brain disease. As World Brain Day recognizes, we have the power to positively impact brain health for ourselves as well as for others in our communities and around the world.

At the American Brain Foundation, we invest in research across the whole spectrum of brain disease. When we cure one brain disease, we will cure many. Donate today to make a difference. With your help, we won’t have to imagine a world without brain disease, we’ll be able to live in one.