Fighting for Awareness, Treatments, and Cures for ALSP: A Family’s Journey With a Rare Brain Disease

Learn about Jeffrey Cade’s journey with ALSP, as well as how his sister Kim and other family members are working to support research into treatments and cures for everyone impacted by this rare brain disease.

Jeffrey Cade had just stepped into a new position overseeing a 2,000-student youth soccer organization when he started experiencing dizziness and movement issues in 2018. These initially mild symptoms would eventually lead him to be diagnosed with a rare progressive brain disease called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Over the course of the next several years, Jeffrey’s symptoms would quickly worsen, forcing him to move back home with his mother as he and his family struggled to receive an accurate diagnosis.

For the long-time youth soccer coach, the sudden and rapid progression of the disease was devastating. “His life was changed overnight,” says his sister Kim. “He went from athlete and coach to basically disabled due to a brain disorder.” After living for two years with a misdiagnosis of multiple sclerosis (MS), Jeffrey and his family finally got an official diagnosis of (ALSP).

ALSP is a rare, progressive brain disease caused by a mutation of the CSF1R gene. Symptoms include difficulty with speech and movement as well as behavioral changes, often accompanied by issues like depression, anxiety, and cognitive decline. Over time, ALSP results in a complete loss of speech and motor functions and is ultimately fatal. There are currently no cures or clinically approved treatments.

Through it all, Kim says Jeffrey has remained hopeful, as much of an inspiration to his family and friends as he was to the players of the soccer organizations in which he was an active and involved member. “Jeffrey is hilarious, he is kind, he is so generous and giving. Anybody who meets Jeffrey walks away with a smile on their face,” says Kim. “The fact that he remains so positive speaks volumes.”

Read Jeffrey’s full story and learn about his and his family’s journey with ALSP below.

Early Symptoms and Misdiagnosis With MS

In February 2019, when Jeffrey was 42, he drove himself to the nearest hospital. Earlier in the previous year he had fallen while coaching and had started experiencing some dizzy spells. Now, he was stuttering, struggling to get the right words out, and what speech he could manage was slurred. The doctors ran tests and assumed he had suffered a stroke.

Over the course of the next year, both his speech and his ability to walk worsened, and in the summer of 2020, Jeffrey moved in with his mother so she could act as his caretaker. By this point he was using a walker and had been diagnosed with multiple sclerosis (MS), but the diagnosis had done nothing to help with improving or managing his symptoms. It would be nearly another year before Jeffrey and his family received the correct diagnosis of ALSP.

Jeffrey’s case is unfortunately not unique, and ALSP is often initially misdiagnosed as MS. Early symptoms like difficulty speaking, movement issues, and cognitive impairment can progress quickly and overlap closely with those of other brain diseases like MS, Parkinson’s, and ALS. For this reason, only genetic testing can conclusively yield an ALSP diagnosis—often after a person has struggled with a misdiagnosis and ineffective treatments for months or years. 

Getting an Accurate Diagnosis and the Role of Genetic Testing

In late 2020, Jeffrey’s doctors began running additional tests, and by January 2021 they had discovered the CSF1R gene mutation indicative of ALSP. 

“When we finally got the diagnosis of ALSP and understood that we were dealing with a terminal illness, it broke our family,” says Kim. “We wanted to do everything in our power to help him, but we didn’t know where to start. There was very little information on ALSP.”

Getting an official diagnosis set Kim on a path to learn more about the disease and find ways she and her family could support Jeffrey through the days and years ahead. She began to find resources and support networks—including the Sisters’ Hope Foundation and the American Brain Foundation—that helped provide answers about ALSP and offered ways family members could get involved in efforts to find treatments and cures.

One of these opportunities came through discussions with Jeffrey’s medical team. “Our family tried to find ways that we could help Jeffrey, and it was then that the doctors asked me, my brother Joseph, and my mom to get tested for the gene mutation,” says Kim. “My mom tested negative, my brother Joseph and I tested positive.”

Living With ALSP

For Jeffrey, the loss of mobility and independence caused by ALSP’s rapid progression was a shock. For years he had been an active soccer player and coach involved in his community and helping others. Jeffrey started playing soccer when he was just 5 years old, and he used to tell his mother that when he got older, he was going to be a soccer player. For a while he did play semi-pro soccer, until a passion for teaching others led him into coaching. In addition to coaching a women’s soccer team in Reno, Nevada, he also spearheaded a youth soccer organization with approximately 300 students and coaches. He had just been promoted and asked to oversee a much larger organization serving 2,000 student athletes based in California when his ALSP symptoms began.

“Jeffrey was always independent and active, looking forward to sports, especially soccer,” says Kim. “Today, he requires 24/7 care. He needs help getting out of bed and with basic tasks such as bathing.” While his mother was able to act as his primary caretaker during the early stages of the disease, he now lives in a nursing rehabilitation facility where he can receive around-the-clock care and support. 

Because ALSP can cause behavioral changes, Jeffrey sometimes receives medication to help control symptoms like extreme anger and anxiety or depression. Kim says that though he struggles to speak and cannot walk, Jeffrey stays positive and looks to the future. She recalls asking him one day how he was feeling. “He responded, ‘I have great days, and I have OK days, but I never, ever have bad days,’” she says. “And that speaks volumes to who Jeffrey is.”

A Bone Marrow Transplant and the Hope of Future Treatments

There are currently no FDA-approved medications to treat ALSP. Certain medications may be used “off label” to treat specific physical or psychological symptoms, but these do not halt or slow the progression of the disease. 

In April 2021, one of Jeffrey’s doctors at the University of California, San Francisco Medical Center recommended a bone marrow transplant. While the procedure is currently considered experimental as a treatment for ALSP, doctors advised that it may be able to halt the progression of the disease by providing the body with an infusion of healthy stem cells. While the family was working to find a suitable donor for Jeffrey, they got word that the insurance company would not approve the transplant because it was not considered an established treatment.

Thankfully, over time and with help from doctors at the Mayo Clinic, they managed to get the procedure approved by Jeffrey’s insurance company. However, it was a struggle which for Kim underscored the importance of increasing awareness about and research into approved treatments for ALSP. Not only is the lack of recognized treatments an issue for people living with the disease, but the lack of knowledge and awareness among the medical community makes it harder to get a diagnosis. Kim recalls that her own doctor wasn’t familiar with ALSP when she went in for an appointment following Jeffrey’s diagnosis.

By late November, Jeffrey’s cousin Kai began the process of becoming a bone marrow donor—an already complex process made even more so by the ongoing COVID pandemic. In March of this year, Jeffrey underwent a bone marrow transplant. The full transplant process took six weeks, including a round of chemotherapy before the transplant and hospitalization to monitor his status afterward.

While this is far from a much-needed cure for ALSP, Kim says the family hopes it will enable Jeffrey to continue battling the disease long enough to benefit from treatments developed in the future. For now, Jeffrey is recovering well from the bone marrow transplant. “He is getting stronger, he’s doing physical therapy, and he is determined to take steps and use a walker again,” says Kim. “He’s a fighter, he’s positive, and we are so proud of him.”

The Importance of Research and Awareness in Finding a Cure

Testing positive for the CSF1R gene mutation alerted Kim not only to her own risk of developing the disease, but also to the importance of awareness in the future of ALSP research and treatment. “Knowing that I have the gene mutation has changed my life. I think about it every day, and I wonder if I too will develop symptoms,” she says. “But in understanding this disease, I have the opportunity to be able to take action [should symptoms start to develop].” 

In the future, the ability to identify one’s own risk for ALSP through genetic testing may also open up possibilities for treatments and procedures, like bone marrow transplants, that could slow or even halt disease progression early on. “Two years went by where Jeffrey had a misdiagnosis,” she says. “If people and physicians understood this disease and brain disorders better, he would be in a better position than he is today.”

Today Kim is working to help support other families dealing with ALSP and is also participating in a clinical trial at UCSF involving people with the CSF1R gene mutation. She remains hopeful that researchers will develop effective treatments for ALSP in the near future. “Research is important,” she says. “The more people we get involved who have the CSF1R gene mutation or have ALSP, the better chances we have to find treatments and eventually a cure.”

Jeffrey hopes that by sharing his story he can help put a face to ALSP and expand awareness for all people living with brain diseases and disorders. “Jeffrey would first and foremost want to tell you that he’s okay,” says Kim. “But he would also ask you for help—help for others living with ALSP and other brain disorders. He would want you to spread the word so we can find the best treatments and one day a cure, and see the first survivor of ALSP.”

The American Brain Foundation is committed to finding treatments and cures for all brain diseases and disorders. By donating today you can help us achieve a future without brain disease.

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.

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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.

The latest brain disease research shows hope is on the horizon for treating and preventing brain disease.

In this month’s roundup, learn about how research is helping scientists develop new approaches to treating devastating brain diseases like Parkinson’s and glioblastoma multiforme. Plus, learn how rock climbing is proving to be an unexpectedly successful therapy for people with Parkinson’s and other movement disorders and how the latest discoveries about how brain cells communicate may impact future brain disease treatments.

Benefits of Rock Climbing for People With Parkinson’s Disease 

Rock climbing has emerged as an unexpected but effective form of therapy for people diagnosed with Parkinson’s disease and other neurologic disorders, including cerebral palsy and multiple sclerosis. A study of 48 people with Parkinson’s disease who had never climbed before found that symptoms like stiffness, slow or hindered movement, and tremors improved over the course of a 12-week rock climbing program.

Drew Falconer, MD, director of the Inova Parkinson’s and Movement Disorders Center in Fairfax, VA, says rock climbing works as an unexpected but successful therapy due to the focus it places on coordination, strength, and fine motor skills. “The systems that keep a lot of people with Parkinson’s from moving in a fluid, effortless way are the same ones we retrain when we have to climb a wall,” says Dr. Falconer. This study offers hope that future movement-based therapies may be able to retrain and rebuild these symptoms and potentially reverse some effects of Parkinson’s disease and other neurologic conditions. Read more about rock climbing and its therapeutic effects here. 

Researchers Confirm Link Between Parkinson’s and the Loss of Specific Brain Cells

New research has taken scientists one step closer to identifying the cause of Parkinson’s disease. For years, studies have shown that Parkinson’s is associated with a dying-off of dopamine-producing neurons found in the substantia nigra (a brain region that is linked to motor control and executive functioning). Recently, a study conducted by researchers from the Broad Institute of MIT and Harvard identified the specific neuron that is linked to Parkinson’s symptoms. This neuron is 1 of 10 dopamine-making neurons found in the substantia nigra, offering researchers a much more specific path for future investigations into disease formation and progression. Knowing specifically which neuron is tied to the emergence of Parkinson’s symptoms could lead to the development of new treatments that attempt to more precisely target or even replace the affected brain cells. Read more about the link between Parkinson’s and dopamine cells here.

New Approach Found for Treating Common and Devastating Brain Cancer

For decades, the survival rate for glioblastoma multiforme has remained at around 5 percent over a 5-year period. But now a 7-year research project is offering a glimmer of hope through a process known as “Hox gene dysregulation.” Researchers found a short chain of amino acids that is effective at targeting and stopping the growth of Hox genes. Hox genes are responsible for the healthy growth of brain tissue, but usually this growth stops while still in utero. When these genes are inappropriately reactivated, additional growth can lead to life-threatening glioblastoma tumors forming in brain tissue. This research could prove crucial in slowing that rapid growth and offer promising new opportunities for treating this aggressive brain cancer. Learn more about how this research could lead to new treatments for glioblastoma multiforme here.

Scientists Discover Brain Cells Communicating in a Way Never Seen Before

Astrocytes serve a variety of roles in the brain, including supporting the growth and functioning of neurons (the primary cells of the brain and nervous system). Recently, researchers at Tufts University in Massachusetts found that astrocytes also carry electrical impulses that allow them to “talk” with neurons. This discovery that astrocytes and neurons exchange electrical impulses gives scientists new insights into brain functions like speech and memory and could lead to a deeper understanding of dementia, seizures, and other symptoms of common brain diseases. Researchers hope that these findings may aid in the development of new and more effective treatments for traumatic brain injury, Alzheimer’s disease, and other brain disorders. Read about the study’s complete findings here.

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Learn how research and funding supported the development of the lifesaving Mobile Stroke Unit, and how future research could lead to even more innovative early interventions.

 

Acute ischemic stroke (AIS) is the fifth leading cause of death and the number one cause of serious long-term disability in the US. Research has identified a crucial early intervention period in the first few hours of a stroke during which certain treatments can halt or reverse stroke progression. This means the quicker a person having a stroke can receive treatment, the lower the risk of long-term brain damage and the higher the chance of a positive outcome. 

This research into the early stages of stroke progression led James C. Grotta, MD, FAAN, to develop Houston’s Mobile Stroke Unit, an innovative emergency response program that now provides lifesaving treatment for thousands of people.

The Development of the Mobile Stroke Unit

Dr. Grotta is a neurologist and clinical researcher focused on developing and testing new acute stroke treatments. He serves as the director of Stroke Research at the Clinical Institute for Research and Innovation, Memorial Hermann – Texas Medical Center and as the director of the Mobile Stroke Unit Consortium. He is also a member of the American Brain Foundation’s Board of Directors.

In 2014, Dr. Grotta launched the nation’s first Mobile Stroke Unit at the University of Texas Health Science Center at Houston and its hospital affiliate, Memorial Hermann Hospital. The Mobile Stroke Unit is a modified ambulance containing brain imaging equipment like a portable CT scanner and tPA “clot busting” medications. This allows Dr. Grotta and his team to bring innovative emergency response stroke treatments directly to a person having a stroke, saving valuable time that would otherwise be lost in transit to the emergency room.

A stroke occurs when either a blocked blood vessel (ischemic stroke) or a ruptured blood vessel (hemorrhagic stroke) disrupts blood flow to a part of the brain. Unless that blood flow is restored, the brain tissue will die, which can lead to paralysis, loss of speech, or death. “We have very good treatments to restore the blood flow [cut off by a stroke], but the sooner those treatments are given, the more likely it is that the brain tissue is salvaged and the patient recovers,” says Dr. Grotta.

Dr. Grotta explains that the initial idea for a Mobile Stroke Unit was sparked by efforts he saw elsewhere to put the latest research on early response into action. He consulted Klaus Fassbender, MD, PhD, and his colleague Silke Walter, MD—both of the Department of Neurology, Saarland University in Hamburg, Germany—who pioneered the early use of a portable CT scanner to quickly assess patients on site and provide emergency stroke treatments. “[They] did a small randomized trial and showed that they could treat patients faster—and even get patients treated in the first hour after the symptoms started,” says Dr. Grotta.

When a larger study in Berlin confirmed the importance of timing in early stroke treatment, Dr. Grotta began to lay the foundation for the first Mobile Stroke Unit in the United States. “I wanted to make a difference in my city in terms of an immediate impact on outcomes and a population of patients who are very vulnerable,” he says. Dr. Grotta views the Mobile Stroke Unit as an essential community resource directly tied to increasing access and equity of care across both underserved and other parts of the city. Initial funding came from local philanthropists, and currently all of the Mobile Stroke Units in operation in the U.S. are supported by donations.

Further funding from the American Heart Association and Patient Centered Outcomes Research Institute (PCORI) supported research into the Mobile Stroke Unit’s impact. These funds allowed Dr. Grotta to conduct the only randomized trial to evaluate the cost effectiveness of this novel approach to stroke treatment.

What Is the Mobile Stroke Unit?

The Mobile Stroke Unit is a standard ambulance that has been adapted to include specialized equipment like a CT scanner, which helps to quickly diagnose a stroke and identify the best course of treatment. When a person calls 911 and reports a suspected stroke, the Mobile Stroke Unit is dispatched with the regular fire department ambulance. They arrive on the scene together to evaluate the person and determine whether they are indeed having a stroke and need to receive care in the Mobile Stroke Unit.

Dr. Grotta explains why a mobile CT scanner is so important to early stroke intervention: “One of the key things you have to do in a stroke patient before you can treat them is determine: is it a stroke due to a blocked artery, or is it due to bleeding in the brain, which causes about 10-15% of strokes? We need to do brain imaging before we can start the treatment.” Once the brain imaging is complete, there’s a nurse on board who can deliver quick-acting tPA clot-busting treatment if needed.

Dr. Grotta likens the Mobile Stroke Unit to an emergency room on wheels. “What makes a Mobile Stroke Unit unique is having the ability to do a scan of the brain, identify that the patient really is having a stroke that’s treatable, and then have those medications on board and the personnel on board to be able to [administer them],” he says. “It’s bringing the emergency room to the patient and that… enables us to treat patients in that first hour or so after symptom onset.” The unit typically arrives within 10 minutes of dispatch and takes 10 minutes to do a scan, meaning a person can be treated within 20 minutes.

This accelerated process saves over 30 minutes of time and generates 10 times more treatments within the first hour compared to standard stroke management, leading to better clinical outcomes. “There’s a highly significant improvement in the percent of patients who are left without any disability. Furthermore, that results in downstream reduction of being in the nursing home and less chronic care facility use,” says Dr. Grotta.

There are now about 20 Mobile Stroke Units in the U.S. Most of them operate within a 10-mile radius in cities or relatively populated areas. Dr. Grotta predicts that 10 years from now, there will be Mobile Stroke Units in every metropolitan area.

“I think one of the most important messages I’d like to get out to everybody is the importance of calling 911 at the first symptoms of a stroke, and to know what the symptoms of a stroke are,” says Dr. Grotta. “Because if people don’t call 911, then they can’t get treated.”

Personal Story: Cynthia Reese

Cynthia Reese experienced the incredible impact of the Mobile Stroke Unit firsthand. While at work, Cynthia felt nauseated and got up from her desk to go to the bathroom, but quickly found herself unable to move or speak. When a coworker found her nearly collapsed, they called emergency services.

The Mobile Stroke Unit met emergency services in transit and Cynthia was transferred to the unit for treatment. “They gave me a clot blocker. By the time I got to the hospital, I was able to converse with the doctors and I returned to work in a week,” says Cynthia. “Because we have the science and because somebody was smart enough to give funding to at least one hospital, I’m here.”

Thanks to this quick response, the Mobile Stroke Unit saved Cynthia’s life and helped her avoid serious, long-term disability. “Had it not been for the Mobile Stroke Unit, I don’t think I would’ve seen my great-granddaughters,” she says. “They knew exactly what to do, how to treat me. And that made all the difference in the world.”

The Impact of Continued Funding and Research

We know more research will lead to more effective treatments and cures, better outcomes, and lower rates of long-term disability for people who experience a stroke. This is why it’s essential to continue funding research into earlier and more effective intervention options and to support programs like the Mobile Stroke Unit

The American Brain Foundation is currently funding a Next Generation Research Grant recipient whose project is focused on researching outcomes for people treated by Mobile Stroke Units. Additionally, the American Brain Foundation’s 2020 Scientific Breakthrough Award went to the Calgary Stroke Team, who conducted research on the effectiveness of mechanical thrombectomy therapy for ischemic stroke patients compared to traditional treatments. 

Dr. Grotta is currently involved in a study of a new drug to stop the bleeding that occurs in a hemorrhagic stroke. Being able to treat these strokes on site with a Mobile Stroke Unit would be a significant leap forward in emergency care. He also points to ongoing research that may soon enable doctors to diagnose a stroke more readily, perhaps using technologies like a portable MRI scanner or an ultrasound device.

Now that research has shown that Mobile Stroke Units lead to improved outcomes, the challenge is making them more economically feasible. It’s more expensive to operate a Mobile Stroke Unit than a regular ambulance, and there is currently no pathway for Medicare and other insurers to cover the costs.

Additional funding can help expand the reach and impact of projects like the Mobile Stroke Unit. “Most grants from the federal government will not cover infrastructure and large equipment like a Mobile Stroke Unit,” says Dr. Grotta. Grants may pay for research and data analysis, but they don’t cover the cost of the Mobile Stroke Unit or doctors’ and nurses’ salaries.

The Mobile Stroke Unit also shows the value of investing in research and resources for pre-hospital treatment of many different emergency health issues, including trauma, heart attack, and others. Most emergencies are time-sensitive and more specifically equipped mobile response units open up opportunities to achieve better outcomes by bringing treatment directly to a person within a crucial early timeframe. With more funding for research, it’s possible to expand the impact of pre-hospital treatment and save more lives.

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

Autism expert Shafali Jeste, MD, FAAN discusses the current state of autism research and the exciting advances in autism therapies on the horizon.

 

Autism is a complex and multifaceted condition that impacts the lives of many Americans. Shafali Jeste, MD, FAAN, Chief of Neurology at the Children’s Hospital Los Angeles, joined us for a webinar to discuss current research efforts to better understand autism. Dr. Jeste is a behavioral child neurologist specializing in autism and related neurodevelopmental conditions. She shared her extensive knowledge of current autism research and offered several glimpses into the future of autism therapy.

Moderated by American Brain Foundation Board Chair David W. Dodick, MD, FAAN, the wide-ranging discussion explored many key topics in the field of autism research and evidence-based treatment efforts. Below we review what Dr. Jeste had to say about the focus of current autism research efforts and where autism research is likely to be headed in the future.

An Era of Discovery and Innovation

Dr. Jeste believes we are in the midst of an era of discovery and innovation in the field of autism research and related therapeutics. As our understanding of autism evolves, doctors are developing better methods of diagnosis. Research has resulted in a better understanding of certain behavioral criteria through which doctors can make an earlier diagnosis of autism than was previously possible.

A Movement Toward Precision Health

Increased accuracy and proficiency in diagnosing autism is a positive step forward. However, Dr. Jeste expressed concerns regarding the need for more specified behavioral interventions, education, and support for families and caregivers of children diagnosed with this condition.

Referencing her work with children with autism and their families in the past, she says physicians were “making a good diagnosis and then really not providing great feedback about next steps. And that’s frustrating.” She went on to explain that, as a physician working with children with autism, “we want to give good diagnoses so that we can really guide parents on what the next steps are, to help provide a clear path forward.”

Dr. Jeste believes the focus of clinical research is currently shifting to improving therapeutics and post-diagnosis interventions. The past 15 years have shown a dynamic shift toward precision health and medicine. This is an initiative she says could significantly impact autism research. She says early intervention is key as current research efforts focus on “provid[ing] the right treatment to the right patient at the right time, ideally really early in development, when we’re first seeing these changes or differences unfold.”

This movement toward more individualized, targeted therapeutic treatments has been fueled by several key advancements, particularly in the area of genetics.

Genetics and Autism

Modern researchers’ ability to examine the genetic underpinnings of various neurodevelopmental conditions is one of the primary factors driving advancements in autism research and targeted therapeutics. Autism researchers are able to identify specific changes in DNA tied to such neurodevelopmental conditions. This is thanks to advanced techniques such as chromosomal microarray (CMA) and whole-exome sequencing.

We now know that autism has a known genetic cause in 15-20% of cases. The genetic causes for autism differ widely from person to person. But this research focuses on constellations of impacted genes in a person’s DNA that lead to the condition. Armed with this knowledge, researchers hope to eventually be able to assess the underlying genetic mechanisms that cause autism. This knowledge will inform and drive new treatments designed to precisely target these underlying causes and their resulting impact on a person’s brain and behavior. The hope is that these targeted therapeutic treatments, once developed, can be effectively utilized in a broad range of cases. We hope this will open the door for even more precision treatments for people with autism.

Genetics research is also informing the way researchers look for early signs that can help predict when children are at an increased likelihood of developing autism. Dr. Jeste says, “it’s not that at age two or three, all of a sudden autism hits.” Instead, neurologic circuits are impacted very early on in the brain’s development, during the fetal stages. “There may be subtle changes in the way the brain fundamentally is wired,” says Dr. Jeste. Current studies focused on these early developmental changes remain focused on babies who have older siblings with autism.

Research shows that children who have an older sibling with autism are 10-20 times more likely to develop autism. This awareness is leading to earlier and more targeted interventions for children with an increased likelihood of receiving a diagnosis. Earlier intervention can improve developmental outcomes.

The American Brain Foundation was one of the earliest supporters of this area of inquiry, funding Dr. Jeste’s research into autism in infancy over 12 years ago.

An Expanded Perspective in Autism Research Efforts

Family involvement in the treatment of children with autism is a well-known driver of more positive therapeutic outcomes. Current research efforts are increasingly involving families and individuals with autism not just as participants. They also want them to assist with the development and organization of studies.

This new era of autism studies stems from the increasing recognition of the value of patient-centered research. Dr. Jeste notes that there are many benefits to having people with autism directly involved in all aspects of research. This helps keep inquiry efforts focused on the real world needs and priorities of people with autism and their families.

This movement toward self-advocacy in autism research empowers individuals with autism and their loved ones. It also helps drive autism research and therapeutic innovations forward. As Dr. Jeste explains, “they’re the ones who are actually accelerating a lot of this landscape.” This movement toward inclusion has already impacted autism researchers’ ability to collect data on types of potentially promising therapeutics. For example, researchers are currently evaluating the use of melatonin for sleep issues commonly experienced by people with autism.

Efforts at greater inclusion and patient-centered research have also directed attention toward two demographics whose needs and perspectives have traditionally garnered less attention in autism studies: women and adults with autism.

Women with autism tend to present with different outward signs and symptoms than men. So they often experience a diagnostic bias. “Early in childhood [girls with autism] may have more of what we call internalizing symptoms. They tend to be more withdrawn. They’re the ones who are really anxious and maybe not speaking up as much,” says Dr. Jeste, “We do think there’s an actual diagnostic bias.”

Dr. Jeste says a UCLA study is “trying to understand both the clinical features and actual brain-based biomarkers that distinguish girls from boys with autism.” This particular study is following adolescent girls with autism into adulthood in an effort to answer the question: “What are the specific challenges and even clinical features that we are finding in girls with autism?”

Other ongoing studies and research efforts are focused on ways to expand resources and support for adults with autism. Dr. Jeste says this research is especially important, as “it’s an area of unmet need and we need to be developing better programs.” Currently, several states, including California, have regional centers that provide services designed to better support adults with autism. Other forms of support for adults with autism include peer support groups, vocational training, and job placement services.

This issue of access to quality services, therapeutics, and support for individuals with autism and their families was one of the major themes raised and discussed during Dr. Jeste’s webinar. She expressed hope that we will continue working to expand access to autism therapy and services. In turn, this should make more forms of support readily available to a wider range of people.

A Hopeful Future

The future of autism research offers hope for new discoveries and more person-centered approaches to therapies, treatment, and diagnosis. Increased collaboration between researchers and individuals with autism has allowed research funding to more directly impact the lives of people living with this condition.

The more researchers are able to trace the neurodevelopmental origins of autism, the deeper understanding we will have of its causes. “Our goal is that we’ll have mechanism-driven treatments that aren’t just specific to one genetic cause,” says Dr. Jeste. In turn, this will lead to more effective, precise treatment options, from behavioral therapy to pharmacological treatments and support.

Autism research continues to shine a light on the many facets of this complex condition. In addition, new discoveries and potential treatments are coming into view. This exciting period in autism research is giving us hope for better ways of supporting people with autism in the future.

The American Brain Foundation continues to demonstrate our unwavering commitment to supporting all areas of brain disease research. We can achieve even more with your help and support. Donate today to join us in paving the way for a future without brain disease.

New research identifies a link between air pollution and brain disease. Also, a first-of-its-kind study has mapped how the brain changes throughout a person’s life.

In this month’s news roundup, we’re excited to share four recent studies, including one that shows how brain function is impacted by age, disease progression, and environmental factors. We also review how the brain triggers movement, and the link between Alzheimer’s and sleep. Finally, we discuss an exciting new project mapping how the brain changes over time. These groundbreaking studies lay the framework for developing new treatments and better methods for early brain disease diagnosis.

How Pollution Affects Brain Health

Air pollution has been linked to several brain diseases and disorders. These include Alzheimer’s disease, Parkinson’s disease, and stroke. Studies show people who live in areas with high levels of air pollution are more likely to develop these conditions. Air pollution can include car exhaust, factory emissions, and dust. Studies have also found that living close to a highway may increase the risk of stroke and dementia. Air pollution can also cause inflammation and damage to brain cells.

It’s difficult for researchers to identify the exact mechanism through which pollution contributes to brain disease. Vladimir Hachinski, MD, DSc, FAAN, is a neuroscientist and researcher at Western University in Ontario and recipient of the American Brain Foundation’s 2022 Potamkin Prize for Research in Pick’s, Alzheimer’s, and Related Diseases. Dr. Hachinski says one theory is that long-term inflammation caused by air pollution can damage blood vessels. As a result, this can increase the risk of stroke. The World Health Organization links air pollution complications to 4.2 million deaths globally. Learn more about the effects of air pollution on the brain here.

Scientists Discover a Brain Circuit That Triggers the Execution of Planned Movement

A new study has discovered how the brain processes cues for different types of movement. Researchers hope these discoveries will lead to new treatments and therapies for people suffering from motor disorders like Parkinson’s. While observing activity in the brain’s motor cortex, researchers found that planning or thinking about moving results in different signal patterns than those that occur during actual movement. For example, the brain reacts differently when waiting for a red light to turn green than it does when pressing the gas pedal to move forward.

Neurons in the brain have specific patterns and timing when it comes to movement. Dr. Hidehiko Inagaki, one of the study’s lead researchers, compares these patterns to an orchestra in which many different instruments must come together in a coordinated way to create a piece of music. “Similarly, neurons in the brain are active with diverse patterns and timing,” says Dr. Inagaki. “The ensemble of neuronal activities mediates specific aspects of our behavior.” Scientists have now found the neural circuit that triggers movement in response to a cue. This neural circuit is like the conductor of an orchestra. It signals the brain to put various patterns of planned activity into motion.

This discovery is key to developing a deeper understanding of how the complex neural activity in the brain controls physical behavior. Now that scientists know the trigger for movement, they hope to develop new therapies for brain diseases like Parkinson’s. Learn more about this groundbreaking study here.

Alzheimer’s: Loss of Wake-Promoting Neurons May Explain Sleepiness

Brain disease researchers are exploring the link between wake-promoting neurons and quality of sleep in people with conditions like Alzheimer’s. Brain disease research has already shown that wake-promoting neurons are often damaged by tau protein buildups in the brains of people with Alzheimer’s. The new study correlated this loss of wake-promoting neurons with a higher urge to sleep. This accounts for the excessive daytime sleepiness and “sundowning” experienced by many people with Alzheimer’s.

Dr. Lea Grinberg is a professor of neurology at the University of California San Francisco and one of the study’s authors. She explained how a loss of wake-promoting neurons causes drowsiness in people with Alzheimer’s: “Our brain has a network of neurons tasked to keep us alert and awake. It is called the ascending arousal system… Early loss of these neurons in Alzheimer’s disease affects individuals’ capacity to stay 100% alert and awake, regardless if they slept well the night before.”

One of the study’s most interesting findings was that progressive supranuclear palsy (PSP) does not seem to damage these same wake-promoting neurons, despite involving the same buildup of tau proteins. Understanding how this protein buildup affects people with Alzheimer’s and PSP differently will help researchers develop more effective ways to improve sleep quality for both conditions. Learn how this discovery may help people with Alzheimer’s and PSP here.

Map of How Our Brain Changes With Age Could Help Diagnose Diseases

A groundbreaking study has developed a map of typical brain growth and development over the course of one’s lifetime. This study is the first of its kind and will be a powerful reference point for many future studies. Using MRI scans from more than 100,000 people, researchers were able to chart factors like brain size over time and other developmental patterns. Having a reference for what standard brain development looks like at different ages may help researchers better predict the onset of brain disease and other neurologic conditions.

For example, one important finding showed the average thickness of the cortex, the brain’s outer region, peaked at 1.7 years old. Thinning of the cortex has been linked to Alzheimer’s and other brain diseases. This link shows early brain development may be a factor in developing brain disease later in life. Learn more about this groundbreaking study and its impact on brain disease research here.

Stay updated on the latest news in brain disease research by following us on Twitter and Facebook. Finding a cure for one brain disease will lead to cures for many others. Donate today to make a difference. With your help, a future without brain disease is possible.

Meet this year’s grant recipients and learn how their innovative research will uncover new insights into brain disease.

The American Brain Foundation was founded to bring donors and researchers together in the fight against brain disease. Our Next Generation Research Grants fund the innovative research of the best and brightest early-career investigators across a broad spectrum of brain diseases and disorders.

With the support of our donors, we aim to inspire a passion for knowledge and discovery, and launch long-term careers for the next generation of clinical neuroscience researchers. Funding research through the Next Generation Research Grants program supports our hope of finding better treatments, prevention, and cures. We fund this so that one day we can all enjoy life without brain disease.

Alzheimer’s, LBD, and Other Dementias

Indira García Cordero, PhD

“Multimodal evidence of the role of Alzheimer’s disease pathology in corticobasal and supranuclear palsy syndromes”

Dr. García-Cordero’s research will study Alzheimer’s disease pathology in the context of corticobasal syndrome and progressive supranuclear palsy. The results of her study will contribute to more accurate diagnosis criteria and will help researchers identify people who may benefit from early drug therapy. In addition, these results may tell us about the occurrence of co-pathology across all neurodegenerative diseases.

Zachary Macchi, MD

“Examining Aggression Towards Caregivers in Lewy Body Disorders”

Behavioral changes, including aggression, are common in people with neurodegenerative disease. Dr. Macchi’s research will identify causes of aggression in people with Parkinson’s disease and LBD as well as the ways that neurologists manage this aggression towards caregivers. The goal of his research is to develop training for caregivers to help better manage aggression in patients.

Jeffrey Motter, PhD

“Olfactory Functioning Across Dementia Diagnoses”

Diagnosing dementia is often challenging because there can be a substantial overlap in symptoms between different types of the condition. Dr. Motter’s research will address the need for simple, inexpensive, non-invasive diagnostic tests for early detection of neurodegenerative diseases by exploring differences in odor memory across different types of dementia. The ultimate goal of this research is the development of a simple diagnostic test, which will help ensure that patients receive an accurate prognosis and the best treatments for their specific condition.

Amyotrophic Lateral Sclerosis (ALS)

Frederick Arnold, PhD

“Alternative polyadenylation in the etiology and pathogenesis of ALS”

Dr. Arnold’s research will identify new genetic risk factors for ALS. This crucial information will aid in developing effective treatments for sporadic ALS and help doctors slow the progression of the disease. By identifying new genetic risk factors for ALS, researchers may be able to rapidly expand the number of people with ALS for whom disease-modifying treatments will be available.

Sanjana Shellikeri, PhD

“Validation of an automated pure motor natural speech assessment tool in ALS-FTD and Lewy Body Spectrum disorders”

Speech can serve as an indication of a patient’s risk of aspiration, a major factor contributing to death. Dr. Shellikeri’s research will develop speech assessment tools that will analyze natural speech in people with ALS, Parkinsonian, and Lewy body spectrum disorders. These assessment tools will help doctors screen patients for speech impairment so they can provide more accurate prognoses and specific treatments to manage these symptoms.

Child Neurology

Natalia Szejko, MD, PhD, ScD

“A multimodal exploratory study of sex differences in Tourette syndrome”

While there is a lower prevalence of Tourette syndrome (TS) in females compared to males, tic severity and impairment are consistently greater in females. Dr. Szejko’s research will study sex differences across different age groups to compare characteristics such as intensity and frequency of tics, changes over time in tic behavior, and differences in treatment response. The study results will inform researchers’ understanding of the causes of sex differences in TS and other neurodevelopmental disorders.

Cognitive Aging and Age-Related Memory Loss

Michael Kleiman, PhD

“Assessing trajectories of discrete measures of speech behavior in age-related decline”

Dr. Kleiman’s research will study speech behavior in older adults and identify social and medical factors that cause a decline in speech. Identifying these factors may lead to the development of remote, virtual, or phone screenings that can aid in early detection of pathological cognitive decline.

Sarah Szymkowicz, PhD

“Non-invasive neuromodulation to enhance targeted cognitive remediation in older adults with depression”

In older adults, depression is associated with a decline in executive function. This corresponds with a higher risk of cognitive and functional decline and an increased likelihood of dementia. Currently, there are no FDA-approved treatments for older adults with depression. Dr. Szymkowicz will research whether combining two promising treatments—novel computerized cognitive remediation (nCCR) and transcranial direct current stimulation (tDCS)—can enhance the brain activity and cognitive functions of older adults with depression, potentially leading to new treatments.

Epilepsy

Regan Lemley, MD

“The Role of the Microbiome in Drug Resistant Epilepsy”

Drug resistant epilepsy (DRE) is characterized by failing to achieve freedom from seizures after trying two or more anti-seizure medications (ASMs). One in three people with epilepsy experience DRE. Dr. Lemley’s research hypothesizes that the gut microbiome contributes to seizures in people with DRE. This is done either by directly inactivating medications or indirectly through its effect on neuroprotective bodily mechanisms. Identifying the microbiome differences between people with DRE and those with well-controlled epilepsy could improve ASM selection and effectiveness.

Migraine

Gina Dumkrieger, PhD

“Forewarned is Forearmed: Prediction of Migraine Attacks for Improved Patient Outcomes”

Dr. Dumkrieger’s research will use wearable sensors and speech and cognitive function assessments to help predict migraine attacks. Accurately identifying a migraine in the pre-headache phase of an attack may lead to substantial improvements in symptom management. Earlier warnings could give people a greater sense of control over migraine by helping to identify factors that worsen migraine attacks and enable more effective avoidance of these triggers.

Multiple Sclerosis

Sachin Gadani, MD, PhD

“Defining the role of inflammatory oligodendrocyte precursor cells on chronic inflammation and impaired remyelination in CNS autoimmunity”

In MS, the immune system receives an incorrect signal and attacks myelin, the insulation that covers the brain’s “wires,” or axons. This leads to neurologic symptoms such as weakness, numbness, and imbalance. Dr. Gadani’s research will study why myelin repair does not occur effectively in people with MS. This research could lead to new therapies aimed at stopping myelin destruction and improving repair mechanisms.

Muscular Dystrophy and Myopathy

Samuel Carrell, MD, PhD

“Developing disease-responsive gene therapies for myotonic dystrophy”

Myotonic dystrophy, the most common muscular dystrophy in adults, has no effective disease-modifying therapies. However, promising recent research has used adeno-associated virus (AAV) to deliver therapies that modify the genes that cause neuromuscular diseases. Dr. Carrell’s research will develop a disease-responsive mini-gene to precisely control the therapies delivered by AAVs and prevent the side effects that have made previous therapies ineffective.

Stefan Nicolau, MD

“Correction of a common Duchenne muscular dystrophy mutation by homology-independent targeted integration (HITI)”

Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, is caused by a genetic mutation, and there is currently no treatment that can reverse or halt the progression of the disease. Dr. Nicolau’s project will test whether homology-independent targeted integration (HITI) can be used to correct the most common mutation in the DMD gene. This research aims to aid in the development of an effective treatment for DMD that can stop or even reverse the progression of the disease.

Myasthenia Gravis

Patricia Sikorski, PhD

“Atypical Memory B Cells in Myasthenia Gravis”

Myasthenia gravis (MG) is a rare autoimmune, neuromuscular disease. Atypical memory B cells (AtMBs) may be associated with autoimmune diseases, but it is not yet clear if this is the case in MG. Dr. Sikorski’s research will study whether AtMBs play the same role in MG as in other autoimmune diseases, which will ultimately help improve our understanding of myasthenia gravis, as well as autoimmunity in general.

Neurological Health Disparities

Whitley Aamodt, MD

“End-of-Life Health Disparities in Parkinson’s Disease”

Because Parkinson’s disease (PD) has no known cure and results in progressive physical and cognitive decline, end-of-life (EoL) care is of particular concern. Identifying EoL care disparities, such as racial differences, is a crucial first step toward eliminating them. Dr. Aamodt’s study will be the first to explore EoL preferences or perceptions among diverse PD populations, and will help us better understand disparities in PD and other neurodegenerative diseases.

Neuromuscular Disease

Tyler Rehbein, MD

“Neuromuscular ultrasound as a biomarker to improve clinical trial readiness in Charcot Marie Tooth Neuropathies”

Charcot-Marie-Tooth disease (CMT) is a family of genetically diverse, hereditary neuromuscular diseases for which there is currently no FDA-approved therapy. Dr. Rehbein will study the use of ultrasound as a biomarker to view the progression of disease across different forms of CMT. This research may lead to a reliable, cost-effective biomarker that will allow researchers to evaluate the effectiveness of new treatments for CMT diseases.

Parkinson’s Disease

Grace Crotty, MD

“The role of metabolomics in predicting LRRK2 gene mutation’s presence and penetrance in Parkinson’s disease”

Despite Parkinson’s disease being the second most common neurodegenerative disorder, there are currently no disease-modifying therapies available for this condition. Mutations in the LRRK2 gene have been considered a causative factor in Parkinson’s disease, but not all carriers of this gene develop Parkinson’s. Dr. Crotty’s research will use metabolomics—an emerging, powerful tool for studying large-scale data and information—to investigate the underlying mechanisms through which Parkinson’s develops in individuals with the LRRK2 mutation. The goal of this research is to identify potential biomarkers that can aid in earlier diagnosis and treatment for Parkinson’s.

Stroke

Alexandra Czap, MD

“Optimizing Management and Outcomes of Large Vessel Occlusion Ischemic Stroke Utilizing Mobile Stroke Units (LVO-MSU)”

Minimizing treatment times to maximize outcomes is a major research and public health priority for acute ischemic stroke (AIS). Mobile stroke units (MSUs) accelerate stroke treatment during the first hours after stroke by bringing the stroke center to the patient. Dr. Czap’s research will evaluate outcomes for people with more severe types of AIS who are treated by MSUs in order to develop a protocol that reduces the time to treatment.

Our recent webinar explained the signs, symptoms, and risk factors of various brain diseases while emphasizing the importance of early detection in prevention and treatment.

Brain disease impacts 1 in 6 people, at least 1 billion people worldwide. Many brain diseases have signs and symptoms that, if detected early, may lead to more effective diagnosis and treatment. Many brain diseases share symptoms and affect common parts of the brain. So finding a cure for one disease will lead to a cure for many.

The American Brain Foundation is committed to sharing valuable resources and increasing public awareness of brain disease. During our latest webinar, James C. Stevens, MD, FAAN, Fort Wayne Neurological Center, discussed the nuances of diagnosing specific brain diseases. He also brought up improving the accessibility of patient care. Dr. Stevens also answered questions about risk factors, treatment options, and preventative measures for brain diseases and disorders.

The importance of early detection

One of the main challenges in brain disease research today is the time it can take between the appearance of the first symptoms and a patient getting a diagnosis. For example, people diagnosed with Parkinson’s disease might begin showing initial symptoms up to 10 years before their eventual diagnosis. For Dr. Stevens, the future of neurologic care lies in developing better early detection and referral methods. This will lead to quicker diagnosis and treatment.

If we can more effectively detect the presence of prodromal disease—the stage when a disease is present but has not yet given rise to symptoms—then doctors and researchers will be better able to develop treatment plans.

“It’s all about early detection,” says American Brain Foundation Board Chair David Dodick, MD, FAAN, “because if we know that someone has the disease or will develop the disease… there’s just a range of lifestyle changes” patients can make to prevent a worsening of symptoms. “And eventually new therapeutics, when they become available, will have the ability to prevent or significantly delay the onset of these diseases.”

Early detection of brain disease involves more than just clinical testing. Dr. Stevens says he can often get a good idea of what his patients are dealing with simply by talking with them during their visits. “I usually use all of my senses to gain information that will be valuable in trying to figure out the patient’s problem and to give them advice that, hopefully, will lead them on the path to improvement,” says Dr. Stevens.

As a neurologist, Dr. Stevens is acutely aware of the various signs and symptoms of different brain diseases. During the webinar, he described how certain symptoms and risk factors manifest in order to help us better understand and potentially detect early signs of brain disease.

Signs and symptoms of amyotrophic lateral sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a neuromuscular disorder caused by degeneration of motor neurons in the brain and spinal cord.

Muscle twitching is a common early sign of ALS. This twitching is associated with weakness or shrinking of the muscles, which doctors refer to as atrophy. Some forms of ALS affect the muscles around the mouth and in the tongue, which causes difficulty speaking clearly. People with this form of ALS may experience twitching or atrophy of the tongue muscles.

Dr. Stevens notes that another early symptom of ALS, increased reflexes, can be tied to how the disease affects the upper motor neurons. “People can have abnormal, superficial reflexes, and sometimes a stiffness that goes along with this,” he says.

Muscle twitching or weakness and problems speaking are often some of the first signs of ALS a person will notice in themselves or a family member. These symptoms are not uncommon and could have many possible causes. So it’s important to see a doctor as soon as you notice them persisting beyond a few isolated incidents. Neurologists will be able to perform a thorough exam and decide whether further tests are necessary to make a diagnosis.

Mild cognitive impairment (MCI) as an early sign of dementia

Mild cognitive impairment (MCI) refers to a noticeable decline in memory and cognitive function that is not significant enough to disrupt general daily life. Symptoms of MCI typically appear earlier or to a more significant degree than general age-related memory impairment. “You can get up in the morning and get ready for the day. You can still pay your bills, you can drive your car and get to where you need to go… but cognitively things aren’t quite right,” says Dr. Stevens.

Signs of MCI include persistent difficulty with short-term memory, including issues with language recall. A person experiencing MCI may have trouble getting the right words out when having a conversation. They may also take longer than usual when figuring out complex tasks.

Detecting MCI is important because it can act as an early indicator of more serious brain disease in the future. Researchers have found that people who present with mild cognitive impairment symptoms are more likely to develop dementia later in life than people who don’t have MCI.

“If you did an age match comparison, patients with MCI may develop a definite dementing illness at a rate between 8% and 12% per year when you follow them down the road,” says Dr. Stevens. “That’s at a much higher rate than someone their same age who does not have [MCI]. So MCI doesn’t mean that you’re going to develop dementia, but it means that your treating physician needs to be aware and keep a close eye on you for any worsening of your cognitive  symptoms.”

Differences in Alzheimer’s disease and other forms of dementia

Dementia refers to many different conditions that result in impaired memory, language, and other cognitive functions. While impairment may vary, dementia is typically severe enough to interfere with daily life.

Alzheimer’s disease is the most common form of dementia. But there are others which are characterized by different causes and patterns of early symptoms. For example, vascular dementia is a common form of dementia caused by an impaired supply of blood to the brain. Such an event may result from a series of small strokes.

The major difference between these two forms of dementia is the process of degeneration. Alzheimer’s is an unrelentingly progressive degenerative disease. Dr. Stevens equates Alzheimer’s degeneration to a slope that progressively slides down with no relief. This does not mean it happens quickly, but once symptoms begin, they tend to get consistently more severe. Vascular dementia is not as consistently degenerative. A person with vascular dementia may have a small stroke that decreases cognitive function before a plateau period during which they remain stable. Another stroke may worsen their symptoms.

Dr. Stevens also discussed some of the ways Lewy body dementia (LBD) shares certain signs and symptoms with Parkinson’s disease. LBD is associated with abnormal deposits of the alpha-synuclein protein in the brain. These deposits, also called Lewy bodies, lead to problems with thinking, moving, behavior, and mood. Some common symptoms shared by LBD and Parkinson’s include stiffness, tremor, and cognitive changes. “We’re taught that Lewy body [dementia] is a bit different than Parkinson’s disease in that the cognitive changes precede or are much more dominant in [LBD] patients,” said Dr. Stevens.

The risk of developing dementia increases if a person has Parkinson’s disease. “Depending on the studies that you read, it can vary from 20% to 50% of people eventually will have some cognitive problem with their Parkinson’s,” says Dr. Stevens. “A significant number of people develop dementia sometime in the course of their illness.” However, just because a patient has Parkinson’s does not mean that they will develop dementia.

Some people with Parkinson’s also experience a REM sleep disorder where they physically act out their dreams in the middle of the night. This is not a common cognitive or neuromuscular symptom. But it can be a helpful early sign in predicting the onset of Parkinson’s.

Certain factors can contribute to the risk of stroke

There are many health issues that, while not directly related to brain health, can create the conditions for brain disease to develop if left untreated. This is yet another reason why early detection is so important. Knowing the risk factors of common brain diseases may enable doctors to suggest certain treatments or lifestyle changes that can reduce a person’s likelihood of developing these diseases in the future.

For example, Dr. Stevens points out that the number one risk factor for stroke or transient ischemic attack (TIA) is high blood pressure. Other common risk factors include high cholesterol, smoking, and excessive drinking. Blood sugar issues and diabetes can be attributing factors to vascular disease, which can increase one’s risk of a stroke.

“Another risk factor that we’ve come to appreciate—and there’s more data coming in the field of sleep medicine—is sleep apnea,” says Dr. Stevens. “We found that untreated sleep apnea is associated with a much higher risk for stroke, and if left unaddressed, could be an issue.”

There are also what some physicians refer to as cardiac or heart causes for having a stroke.

“It could be due to an irregular heart rhythm—a very common one is atrial fibrillation. There can be valvular disease that can cause clots to form that go up to the brain, or the heart could not be pumping effectively and create clots that could also go up to the brain,” says Dr. Stevens. If these health issues are detected early, doctors may be able to reduce the risk of stroke and TIA by prescribing an antiplatelet agent or an anticoagulant to reduce the risk of a future cardiac event.

These preventative, diagnostic and treatment measures may also help those who have already had a stroke. Research shows that the risk for both stroke and TIA increases in the year following an initial stroke when compared to people who have not had a TIA or stroke. “I think for people who have experienced [a stroke]… the key is to try and figure out the cause. Make sure you have a very thorough evaluation,” said Dr. Stevens. Determining an underlying cause could lead to more informed and effective preventative treatments to avoid further strokes.

Dr. Stevens believes that as research and studies continue, doctors will be able to reduce the risk of a second stroke following an initial stroke. But for now, a first stroke is a “red flag” and a warning for the possibility of another stroke or TIA in the future.

When you may need to see a physician

It is important to note that the signs and symptoms above may indicate the early stages of brain disease. However, many similar cognitive changes naturally occur with age. “I tell patients it’s analogous to having a slower processor on your computer. Meaning that you can bring up the information and the data, but it just takes longer,” says Dr. Stevens.

If you have concerns for yourself or a family member regarding potential brain disease, it is best to see a physician as soon as possible. Your doctor will be able to assess whether these symptoms are simply a part of the aging process or need to be investigated further.

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.

Recent brain disease research has uncovered a potentially groundbreaking link between multiple neurodegenerative diseases. Plus, learn how insights into memory formation and antibodies may lead to more effective treatment options for people with brain disease.

In this month’s news round up, we cover the latest research in the fight against Parkinson’s and new treatment options for those suffering from myasthenia gravis. Learn about an exciting new study that found a common link across multiple neurodegenerative disorders, opening up new understandings of disease formation and progression. We also dive into discoveries about how memories form and how this research may help scientists better understand neurodegenerative diseases.

A Common Thread May Link Multiple Neurodegenerative Diseases

A groundbreaking study found that a protein involved in cleaning brain cells may be responsible for the fibrils commonly found in the brains of people with neurodegenerative diseases like Alzheimer’s and progressive supranuclear palsy (PSP). Researchers discovered that the TMEM106B protein sometimes splits into fragments that then reassemble into fibrils. These are small clumps of protein fragments often tied to various brain diseases. The researchers expressed surprise to find this protein fibril in the brain tissue of 11 patients who had passed away from three different neurodegenerative diseases.

Researchers think that the breakdown of the TMEM106B protein impedes the function of lysosomes. This in turn causes fibrils to form from other known fibril-forming proteins. This alone is not enough to conclude that these protein fibrils cause brain disease. However, the prevalence of fibrils in the brains of people affected by neurodegenerative diseases suggests that they play a significant role. Understanding the mechanisms through which fibrils form will lead to a better understanding of what causes these diseases. Discovering how to prevent TMEM106B from breaking down may also lead to new treatment methods for other brain diseases. Learn more about this study here.

Researchers uncover how the human brain separates, stores, and retrieves memories

A new study has given researchers insights into how the brain creates, stores, and accesses memories. Researchers accomplished this by identifying two kinds of brain cells responsible for memory formation. They discovered that these cells—called boundary cells and event cells—play different roles in the creation and organization of specific memories. To better understand how boundary and event cells affect memory formation, researchers monitored study participants’ brain activity while viewing film clips involving different types of transitions between scenes. Researchers found that these two types of cells reacted differently depending on whether the clip involved “soft boundaries” (transitions between multiple scenes in the same story) or “hard boundaries” (transitions from one story to a completely different one).

This research helps scientists better understand the brain functions responsible for forming and storing memories. It also sheds light on the processes involved in memory recall. These processes are often disrupted in people with neurodegenerative disease. So this research may aid in the development of new therapies for memory disorders such as Alzheimer’s disease. Read on to learn more about how these findings may help those with memory disorders.

Parkinson’s: Llama antibodies may help design new treatments

New research has discovered how to influence a gene involved in Parkinson’s disease using nanobodies from llamas. Scientists think that mutations or overactivation of the LRRK2 gene may be responsible for inherited and other forms of Parkinson’s. A recent study found that nanobodies—small molecules like antibodies found in camels and llamas—can block or inhibit certain processes of the LRRK2 protein. This discovery allows for a more selective approach to modifying the behavior of LRRK2. Consequently, this could lead to more effective Parkinson’s treatments with fewer side effects.

To produce these nanobodies, the research team immunized llamas with LRRK2. Then they extracted different types of nanobodies from blood samples. This allowed them to test each nanobody to determine its effects on the LRRK2 protein. These nanobodies aren’t intended to be used directly in Parkinson’s treatment. But they can help researchers better understand how to modulate LRRK2 activity. This could be instrumental in developing drug therapies that work similarly. Read more about this study and how it can help those with Parkinson’s here.

New Myasthenia Gravis Drugs Offer More Options to Patients

Recent research has led to a wider variety of treatment options becoming available for people with myasthenia gravis. As a bonus, many come with fewer side effects. Myasthenia gravis causes a person’s immune system to disrupt communication between nerves and muscles throughout the body. In most cases, an antibody named immunoglobulin G blocks muscle receptors that receive acetylcholine, a neurotransmitter responsible for telling muscles when to contract.

In the past, myasthenia gravis was very difficult to treat, often requiring hospitalization. However, research in recent years has resulted in various treatment options that greatly improve the quality of life for people living with the disease. Corticosteroids and immunosuppressant drugs have shown promise in slowing or preventing the body’s production of the antibodies responsible for disrupting nerve-muscle communication. In December 2021, the US Food and Drug Administration approved a new intravenous infusion treatment for myasthenia gravis. This new treatment involves giving monoclonal antibodies through an IV infusion and has been found to cause fewer side effects than traditional steroids and immunosuppressants. Read more about this research here.

One research discovery has the potential to drive many more breakthroughs. Below we explore six groundbreaking discoveries that have changed the course of brain disease research and treatment.

 

At the American Brain Foundation, we support and fund research that works toward finding cures for all brain diseases. What’s most exciting is that a single breakthrough in brain disease research often has greater implications. This applies not just in unlocking new treatments, but also for opening up new understandings in other research areas.

This type of progress is what informs and upholds our philosophy of “Cure One, Cure Many.” To show the incredible impact of brain disease research, we’re sharing some of the most important historical advancements and discoveries about the brain—all made possible by research.

Fluid Biomarkers

Fluid biomarkers are chemical indicators in our blood, bodily fluids, or tissues. They can give doctors and researchers important information about how the body is functioning. They act as measurable signs of normal or abnormal biological processes. Additionally, they can indicate the presence of diseases, health risks, even the extent of a person’s responses to treatment.

Fluid biomarkers in cerebrospinal fluid (CSF) and blood plasma have become important for the early detection and diagnosis of neurodegenerative diseases like Alzheimer’s. Biomarkers help researchers measure changes in the brain and better understand various risk factors. They can also be helpful in selecting people who fit certain criteria for a clinical trial or research study.

Prior to the early 2000s, the only way to diagnose Alzheimer’s or other forms of dementia was through an autopsy. With advancements in research, doctors can now look for fluid biomarkers related to dementia while people are still alive. This development can improve diagnosis and treatment options. Four fluid biomarkers have been developed into tests to help support an Alzheimer’s diagnosis. While these are typically measured in CSF, new breakthroughs have made it possible to also use blood samples.

As researchers learn more about biomarkers, they can better track the onset and progression of neurodegenerative diseases. Consequently, they can measure the effectiveness of specific treatments. The hope is to make this type of testing and tracking more accessible in doctors’ offices and other clinical settings. Current biomarker research is working to improve early detection, diagnosis, and treatment of Alzheimer’s. It can also pave the way for new discoveries related to other types of dementia.

Brain Imaging and Mapping

Functional brain imaging and mapping technology has evolved over time thanks to new discoveries in cognitive neuroscience. Brain imaging helps scientists understand how our brain functions to support different mental activities. In addition, imaging technology can detect diseases like Parkinson’s and epilepsy. Current types of brain imaging technology include positron emission tomography (PET), functional magnetic resonance imaging (fMRI), electroencephalography (EEG), electrocorticography (ECoG), magnetoencephalography (MEG), and optical imaging with near-infrared spectroscopy (NIRS).

The invention of the EEG in 1929 revolutionized brain research by giving scientists the ability to measure electrical activity in the brain. Early brain imaging efforts also involved looking at brain blood flow and its connection to brain function and behavior. This research was motivated by the idea that when nerve cells in a certain part of the brain become active, there would be an increased blood supply to that area. Newer technology such as PET and MRI scans became available in the 1970s. Over time, they offered improved diagnostic capabilities and contributed to a deeper understanding of the brain.

First used in 1992, fMRI technology has presented another leap forward for researchers working to understand how complex mental processes are handled by different areas of the brain. Researchers are able to use fMRI to produce images showing what happens in the brain as people think and complete certain tasks. This has allowed us to map different functions to distinct parts of the brain. These more nuanced mapping capabilities have also opened up additional discoveries. For example, we now understand that different parts of the brain interact to complete different actions. We also recognize that certain networks within the brain become active for specific tasks. A deeper understanding of these interconnections will expand the possibilities for brain disease research.

Brain imaging technology is an area that continues to rapidly develop. Current research is exploring real-time 3D imaging as a way to further develop scientists’ understanding of how and where in the brain’s physical structure cognitive processes emerge. Researchers at Stanford are currently developing inexpensive technology for optical recordings of neurons, which could make brain mapping accessible on a larger scale and lead to a wave of new discoveries.

Neural Implants and Deep Brain Stimulation

Neural implants are devices that are surgically attached to the brain’s surface or cortex in order to stimulate, block, or monitor certain important signals between neurons. The implants emit constant electrical impulses that can stimulate certain brain functions. They can also cause neurons to communicate in a specific way. Their current use is treating various brain diseases, including therapies like deep brain stimulation and vagus nerve stimulation. In addition, they have uses in rehabilitation and communication with prosthetic limbs.

Deep brain stimulation (DBS) is a form of therapy in which electrodes are surgically placed in the brain to help manage the symptoms of a disease. The development of the neurostimulator was born from the success of the cardiac pacemaker. Adapting the pacemaker’s technology, neurosurgeons initially pursued neurostimulation as a way to treat chronic pain. But over time research uncovered a variety of other potential benefits to the technology.

In 2002, deep brain stimulation was approved by the Food and Drug Administration for treating Parkinson’s disease. That success prompted researchers to explore other uses. Since then, DBS received approval for the treatment of conditions like dystonia, epilepsy, and essential tremor. It is currently in clinical trials for the treatment of Tourette syndrome and psychiatric disorders like depression.

Researchers have also been exploring the therapeutic effects of neural implants on the vagus nerve. This nerve sends messages between important organs and the brain stem. Studies are underway to determine how vagus nerve stimulation could be used to treat stroke, epilepsy, migraine, and many other conditions. Brain imaging studies also offer promise for improving the performance of neural implants. This is because more complex understandings of how neurons communicate will allow doctors to adapt and expand neurostimulation treatments.

Genome Mapping

An incredible feat of scientific research, the Human Genome Project outlined our entire genetic blueprint. Between 1990 and 2003, an international team of researchers worked to sequence and map the DNA sequence of the human genome. Having a complete sequence of our genome gives researchers a clearer understanding of how our bodies function and evolve. Studies have been able to connect specific genes to an increased risk of developing certain diseases. Such connections offered a powerful tool for the early diagnosis of brain disease. For example, in 1997, the National Human Genome Research Institute discovered a genetic abnormality responsible for causing some cases of Parkinson’s disease.

The initial goal was to complete the sequence and create physical and genetic maps of the human genome. But scientists have since sequenced and mapped some animals as well. In recent years researchers have also expanded to more advanced drafts of mouse and rat genomes and variable bases of the human genome.

Now, scientists continue to study how different parts of the genome work together. They also look at how our genetic make-up relates to our health and common diseases. The hope is that genome-based research will help develop better diagnostic tools and treatments. Once it’s possible to perform detailed individualized analysis, healthcare professionals will be able to use specific insights to reduce an individual’s health risks and recommend more personalized health interventions.

Animal Models

Because we share many biological characteristics with certain animals, studying them can help us better understand some of our own cognitive processes, brain chemistry, and responsiveness to drug treatment. Animal models have become an important part of biomedical research—with the use of mouse models specifically growing since the 1990s. Along the way, scientists have discovered how to manipulate animal genomes to add (transgenic) or eliminate (knockout) specific genes.

In 1995, scientists created the first transgenic mouse model with a gene mutation for an inherited form of early-onset Alzheimer’s disease. This helped confirm and deepen researchers’ understandings of how specific beta-amyloid plaques may form and contribute to Alzheimer’s symptoms. Mouse models presented challenges in adequately modeling complex neurological diseases. So more research is necessary to understand how we might apply treatments that have been effective in mice to humans.

Despite those difficulties, animal models have contributed to discoveries in Alzheimer’s, Parkinson’s, and other neurodegenerative diseases. They have helped us gain a better understanding of how these diseases develop and progress. They also helped test the effectiveness of potential treatments and therapies.

As we move into the future, models will likely become more humanized to provide more accurate insights. In some cases, scientists may insert genetic material from humans into animal models so they more closely mimic human conditions. They may also create new models from different animal species. With the common goal of advancing our understanding of health and disease, researchers will look to explore how resources and knowledge can be applied across different animal models and related studies.

Discovery of Glial Cells

For many years scientists assumed the many brain cells that were not neurons were simply structural filler. These cells, called glia, are distinct from neurons, and over time their role has become clearer. Initially, it appeared that glial cells existed only to support neurons, but today research is exploring the more active role they play in brain communication and memory.

In the early 20th century, scientists discovered that people with certain brain conditions showed common, distinct patterns in glial cell formation and activity. They also found that even though glial cells don’t have axons—which means they don’t carry an electrical signal—their charge can change when exposed to a firing neuron. By the 1980s and 1990s, research sparked another breakthrough. Researchers found glial cells play an active role in sending and receiving signals to neurons and other glia.

Thanks to this progression of research discoveries, we know glial cells are involved in many important cognitive processes. They regulate brain communications, respond to injuries and infections, and support learning and memory.

For example, when specific types of glial cells overproduce a certain protein, it can result in the breakdown of synapses. This disrupts the connections between neurons and impairing memory retention. Glial cell research can impact our understanding of diseases marked by synapse loss. This will further our understanding of Alzheimer’s, amyotrophic lateral sclerosis, and multiple sclerosis.

As these six major research breakthroughs show, one discovery can lead to many more, with applications across multiple different forms of brain disease. Just as the parts of the brain are interconnected, different brain diseases may share common causes and potential treatments. When we learn more about one type of disease, it offers insight into others.

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

New research explores the possibilities biomarkers offer in early detection, accurate diagnosis, and effective treatment for Parkinson’s disease.

Parkinson’s disease affects nearly 1 million people in the United States. We expect that number to grow to 1.2 million by 2030. In our recent webinar, Matt Stern, MD, a renowned expert in the field of Parkinson’s disease, shared updates on the current state of Parkinson’s research. He also discussed ongoing research and new discoveries that offer hope for people suffering from Parkinson’s and other neurodegenerative diseases.

Dr. Stern is a professor of neurology, co-founder of the Parkinson’s Disease and Movement Disorder Center at the University of Pennsylvania, and founding director of the Parkinson’s Disease Research, Education and Clinical Center (PADRECC) at the Pennsylvania VA Medical Center.

Early Detection of Parkinson’s Disease

Parkinson’s disease affects about 1% of the population, primarily people in their late 50s and 60s. It is marked by tremor, slowness of movement, and muscle rigidity. Additional symptoms include gait and balance difficulties, speech issues, and bowel and bladder problems.

Dr. Stern noted how far the treatment of Parkinson’s disease has come since he first started working in the field. “The good news is we’re very effective now at being able to treat many of the symptoms of Parkinson’s disease, and patients can live very long, productive lives with the right kind of therapy,” he says.

Current research is paving the way for the early detection of Parkinson’s disease. When researchers identify biomarkers, doctors will be able to detect and diagnose Parkinson’s earlier. Biomarkers are specific signs that indicate the presence of a disease early on. Early detection can lead to earlier, more effective treatments. It may even become possible to prevent or slow the onset of symptoms.

“What I’m very excited about is this whole notion of biomarkers that may enable us to make the diagnosis of Parkinson’s disease at a time when it’s not disabling—in fact, at a time when there may be no symptoms at all—and then intervene when we can make much more of a difference,” Dr. Stern says.

Dr. Stern pointed to current efforts by The Michael J. Fox Foundation to track the emergence of Parkinson’s symptoms in at-risk individuals. Researchers are currently assembling the largest ever research group of individuals who are at risk of developing Parkinson’s disease but do not yet have it. This research will shine a light on what happens before any Parkinson’s symptoms start. In addition, it could identify what biomarkers may indicate a higher risk of developing the disease. Other studies have also started to identify factors that could potentially indicate higher risk. This includes low dopamine levels, losing the sense of smell, or REM sleep behavior disorders.

Advances in genetics have also helped identify disease-causing genes, including two that are specific to Parkinson’s disease. Therapies targeting these genetic defects may offer promising new ways to reduce the severity or possibly even prevent the disease.

The Future of Parkinson’s Diagnosis

Right now, a Parkinson’s diagnosis is often based on observable symptoms. These observations may be supported by a dopamine scan, sometimes called a DaTscan. That’s because many of the motor symptoms—like tremor, slowness of movement, and muscle rigidity—are linked to a deficiency in the neurotransmitter dopamine. This scan can show abnormalities in the transmission of dopamine in the brain. So it may be an effective early screening tool.

“In the study that we just published last year, we used the DaTscan [imaging that shows how much dopamine is in the brain] and smell testing as our screening tool,” says Dr. Stern. They found that two-thirds of people who had an abnormality in their DaTscan would go on to develop Parkinson’s disease, even if they had no symptoms at the time of the scan.

Researchers are also looking into whether Parkinson’s has different subtypes, which Dr. Stern says has the potential to revolutionize diagnosis and treatment. Diagnostic tools in the past were very limited. So he questions how many people have been misdiagnosed based on symptoms that outwardly present as Parkinson’s. “Because of genetic variability, there were probably a lot of syndromes that we didn’t quite recognize that included what looked exactly like Parkinson’s disease and responded to therapy like Parkinson’s disease,” says Dr. Stern.

One example researchers are starting to investigate is the connection between the “gut microbiome”—the various bacteria, fungi, and microbes found throughout our GI tracts—and the vagus nerve, which connects directly to the brain. “That’s sort of caused this hypothetical question of ‘does Parkinson’s disease actually begin outside the brain?’” asks Dr. Stern. “And my guess is that in some patients the answer is yes, and in some patients it’s no. This is the whole thing: There are probably different forms of Parkinson’s disease.”

Breakthroughs in Treatments and Therapies

Current therapies for Parkinson’s often involve replacing dopamine. Dopamine replacement therapy was a dramatic breakthrough in the late 1960s and early 1970s. Since then, researchers have been looking for ways to reduce the side effects inherent in this type of treatment. Dr. Stern is enthusiastic about these newer forms of dopamine therapy, including infusions and long-acting oral formulations, which more closely mimic how the body naturally processes dopamine.

He also points to research that is helping us better understand the beneficial effects of non-drug treatments such as regular exercise and dietary changes. “There are some studies that have shown that a regular exercise program and things like the Mediterranean Diet [a diet high in vegetables, fruits, grains, and healthy fats like olive oil] may actually reduce the incidence and severity of Parkinson’s disease,” says Dr. Stern.

Dr. Stern also encouraged people with Parkinson’s to talk to their doctor about all symptoms they are experiencing—not just the ones they think are related to the disease. For many people, the non-motor symptoms of Parkinson’s—which can include anxiety, depression, and sleep issues—can be a greater source of disability than the typical motor symptoms. Finding ways to deal with these symptoms is every bit as important to addressing a person’s overall well-being.

Connections Between Parkinson’s and Dementias

The average life expectancy for people with Parkinson’s has increased. So we have seen more cases where the progression of the disease leads to cognitive impairment or dementia. Understanding the connection between the motor symptoms and neurodegenerative properties of the disease is a crucial next step in research. “That may be the biggest unmet need right now,” says Dr. Stern, “Therapies to prevent that from occurring.”

Those cognitive issues also highlight the similarities or connections between Parkinson’s disease dementia and other dementias. “There’s a spectrum between Alzheimer’s disease and Parkinson’s dementia, and often the pathologies coexist,” Dr. Stern says. “In many instances, we find the changes of Alzheimer’s disease in Parkinsonian brains.” This overlap makes it difficult to make an accurate diagnosis while a person is alive—but it also means a breakthrough for one disease could lead to a breakthrough for the other.

New research is exploring how to better distinguish between these degenerative brain diseases. One area of study focuses on the ability to pick up very small amounts of alpha-synuclein (a protein linked to Parkinson’s) in the blood or spinal fluid. While this type of testing is not ready for clinical use yet, Dr. Stern says it may be available soon.

Researchers are also working to find a radiotracer—molecules that can bind to a specific protein and be detected on a scan—which he believes will have a significant impact on diagnosis. “Right now, we can look at an Alzheimer’s patient and do amyloid imaging and pick up the pathology because it’s an extracellular [outside the cell] clumping of protein. In Parkinson’s disease, the alpha-synuclein [protein] is intracellular [inside the cell], and it’s a lot more challenging to get a radio tracer that will bind to it,” he explains.

With research on new methods of early detection and more accurate diagnosis, there is hope that doctors will be able to identify and treat Parkinson’s disease earlier and more effectively. Because Parkinson’s disease is interconnected with other degenerative brain diseases, a breakthrough for one could lead to new discoveries for many others.

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 life without brain disease; we’ll be able to live in one.

New research offers greater insight into how brain diseases like Parkinson’s and Alzheimer’s may be linked to brain chemistry and emotions.

In this month’s news roundup, we’re excited to share five recent studies that are helping scientists better understand how the brain works. These new findings have the potential to open doors to new treatments for various brain disorders. Read on to learn more about the placebo effect in Parkinson’s disease and the power of music in dementia therapy. In addition, we offer info on a comprehensive new atlas of the cells that carry blood to the brain.

A brain circuit tied to emotion may lead to better treatments for Parkinson’s disease

Having lived with Parkinson’s disease for more than a decade, Paul typically struggles with getting up out of a chair. Yet when he realized his young grandson was in danger, Paul was able to jump up and run to him in a matter of seconds. This phenomenon is called paradoxical kinesia, or the sudden ability of a person with Parkinson’s to move smoothly and quickly. It often happens when triggered by strong emotions. To better understand this variation of the placebo effect in Parkinson’s, scientists are studying two brain circuits that control voluntary movement.

Researchers are currently using a monkey model to explore the connection between emotional response and the biological underpinnings of paradoxical kinesia. They expect to find that the anticipation of a reward leads to a burst of dopamine signals from the brain circuit that controls movement. This deeper understanding of emotional responses like fear and joy offers hope for powerful new treatments for Parkinson’s. This could even take the form physical activities like dancing and boxing. Learn more about the placebo effect in Parkinson’s here.

How Music Affects Memory in Those with Dementia

Research shows that songs with deep personal meaning can stimulate memories, even for people with dementia. A recent study reveals that areas of the brain linked to musical memory show little damage in people with Alzheimer’s compared to young, healthy people. This was despite the fact language and visual memory pathways are often impaired in early stages of the disease. Researchers also found that playing personally meaningful music can activate key regions of the brain and improve mood for people who have difficulty accessing their memories. Read more about how to use music therapy for people with dementia here.

Amygdala changes in individuals with autism linked to anxiety

Research shows that changes in the amygdala is associated with the development of anxiety in children with autism. The amygdala is an almond-shaped structure in the brain responsible for processing emotions like fear.  A study of hundreds of MRI brain scans suggest that amygdala size may differ for individuals with autism who have different forms of anxiety. That includes traditional anxiety and autism-distinct anxiety. The research into autism-distinct anxiety is still new. But this study marks an important step in understanding the mechanism of anxiety in autism. Looking forward, researchers plan to examine how the amygdala interacts with other brain areas. Learn more about this study here.

Alzheimer’s: Addressing sleep disturbance may alleviate symptoms

Researchers may have discovered a connection between sleep disturbances and the development of Alzheimer’s disease. Circadian rhythms, biological cycles that control sleep and wakefulness, regulate the buildup of beta-amyloid, a key protein found in the brain of people with Alzheimer’s. In a study using mouse cells, researchers found that disruption of circadian rhythms also interrupts the process through which the body clears these proteins. This causes beta-amyloid to accumulate and form plaques that disrupt brain function. Further studies are needed, but this finding signals that addressing sleep disturbances in people with Alzheimer’s may help mitigate symptoms. Learn more about this research here.

A new atlas of cells that carry blood to the brain

Researchers from MIT have created a comprehensive atlas of cerebrovascular cells. These cells form the blood vessels that deliver oxygen and critical nutrients to the brain. They also block out pathogens and toxins. Although they make up only 0.3 percent of the cells in the brain, there are many types of cerebrovascular cells. The team examined the functions of each of these specific cell types in human brain tissue by performing single-cell RNA-sequencing on more than 16,000 cerebrovascular cells. The researchers also used the new atlas to analyze differences between cerebrovascular cells from healthy people and people with Huntington’s disease. Because they are accessible through the bloodstream, cerebrovascular cells could provide potential treatment options for Huntington’s and other neurodegenerative diseases. Read more about the new atlas here.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. We believe that finding a cure for one brain disease will lead to cures for many others. Donate today to make a difference. With your help, we won’t have to imagine life without brain disease; we’ll be able to live in one.

Dr. Hauser is a renowned neuroimmunologist who has dedicated his career to advancing the understanding of multiple sclerosis.

The American Brain Foundation prioritizes research across the whole brain, because we know that when we cure one brain disease, we will cure many. This month we’re excited to highlight the career-long contributions of Stephen L. Hauser, MD, whose groundbreaking work on multiple sclerosis has transformed treatment while also leading to discoveries in other areas of brain disease research. Dr. Hauser was recently honored with the American Brain Foundation’s Scientific Breakthrough Award for his 40+ year commitment to evolving and deepening our understanding of multiple sclerosis (MS).

Dr. Hauser’s early recognition of the potential for immunosuppression in MS treatment led to critical insights and breakthrough B-cell therapies. They may transform the lives of many of the nearly 1 million Americans living with the disease. Dr. Hauser’s commitment to research changed the landscape of treatment for what was previously a relentlessly progressive form of MS.

A Long Career Prioritizing Research and Patient Care

After earning his degree at Harvard Medical School in 1975, Dr. Hauser went on to train in internal medicine, neurology, and immunology. He is currently the Robert A. Fishman Distinguished Professor of Neurology at the University of California, San Francisco (UCSF) and director of the UCSF Weill Institute for Neurosciences. He is also a fellow of the Association of American Physicians and American Academy of Arts and Sciences. In addition, he is a member of the National Academy of Medicine.

Dr. Hauser has received a wide range of recognition and accolades throughout his long career. He even received an appointment by President Barack Obama to the Presidential Commission for the Study of Bioethical Issues. He has received numerous other awards and honors for his work, including the Jacob Javits Neuroscience Investigator Award, the John Dystel Prize for Multiple Sclerosis Research, the Charcot Award, and the 2017 Taubman Prize for Excellence in Translational Medical Research.

Breakthrough Research Leading to Innovative B Cell Therapies

In people with MS, the immune system attacks the protective myelin coating of nerve cells in the brain and spinal cord. This attack blocks the transmission of messages along those nerve cells. That can cause symptoms like weakness, numbness, loss of coordination, and visual impairment. Dr. Hauser led groundbreaking research through which he and his team discovered that B cells, a type of immune cell, are responsible for this attack on the myelin membrane.

As a result of this discovery, he and his colleagues decided to test different immunosuppressive drugs that specifically target B cells. They found that suppressing B cells didn’t just improve symptoms in people with multiple sclerosis. This treatment was also an effective form of therapy for primary progressive MS, the most disabling form of the disease. This research led to the development of a new B cell depleting drug, Ocrelizumab, offering a powerful and promising new approach to treatment for previously untreatable forms of MS.

The American Brain Foundation’s 2022 Scientific Breakthrough Award

The American Brain Foundation awarded Dr. Hauser with the Scientific Breakthrough Award at Commitment to Cures on April 6. We give this award to those whose research has led to meaningful advances in brain disease treatment and care.. This year, the Foundation honored Dr. Hauser’s breakthrough research in the genetic basis, immune mechanisms, and treatment of multiple sclerosis.

“I thank the American Brain Foundation for this wonderful honor, which I accept with gratitude and on behalf of the many others who participated in this 40-year journey—colleagues across national borders, industry partners who took risks on a disease mechanism judged by many as implausible, funders including the National MS Society and the NIH, and private donors who believed in novel scientific directions,” said Dr. Hauser.

He also shared his gratitude for the thousands of patients who participated in his research. Dr. Hauser hopes this recognition will highlight the importance of bringing together medical care and science to advance the treatment of brain disease.

The American Brain Foundation funds research—and honors those doing groundbreaking work like Dr. Hauser—across the full spectrum of brain diseases. Because the brain is interconnected, each new discovery has the potential to cure not just one but many different brain diseases.

Interested in learning more about the breakthrough brain disease research supported by the American Brain Foundation? Find all of our 2022 award recipients here.

After dystonia changed his life, Tom S. was determined to turn his obstacles into opportunities and dedicated himself to helping others navigate similar health challenges.

Tom S. was living a busy life as a full-time student pursuing a master’s degree in counseling. But in the summer of 2001, he began noticing certain muscles contracting in his neck. “I noticed that my head would slightly lean to the right when I was sitting, and it would flop to the right when I walked,” he says. “Thinking it was a musculoskeletal problem, I sought out chiropractic care, where I received neck adjustments and extension traction.”

Over the course of the following months, Tom’s life would change dramatically. As his symptoms worsened, he discovered through research and consulting with specialists that he had cervical dystonia. Despite dystonia being the third most common movement disorder after Parkinson’s and essential tremor, it was a long path to an official diagnosis. “Like many others with dystonia, I had to originally diagnose myself,” says Tom. This early lack of resources and clear answers eventually led Tom down a road to advocacy and support for others who may feel like they’re struggling with their health issues alone.

The Road to a Dystonia Diagnosis

After several months, the discomfort and severity of muscle contractions was increasing. Tom noticed that his neck muscles were involuntarily pulling his head to the right more forcefully. This created extreme pain when he moved it in any direction. As the pain worsened, he sought out other chiropractic treatment options. He went to massage therapists, a sports medicine doctor, and physical therapists, as well as MDs and an internist. “None of it helped,” he says. “I kept getting worse.”

Increasingly frustrated with not being able to identify what was wrong, Tom began researching his symptoms on the internet. There, he discovered cervical dystonia. Convinced this was what he had, Tom sought out a movement disorder neurologist, who ended up making the official diagnosis.

Dystonia does not have a cure at this time, but there are medications that can improve symptoms. However, by the time Tom got a diagnosis, he was in such extreme pain, he was unable to do anything on his own. “My head and neck were turned and stuck about 45 degrees toward my right shoulder, and the disfigurement significantly worsened with any type of movement because of the intense muscle contractions,” he says.

Adjusting to a New Normal

As a result of his pain and increasing lack of mobility, Tom had to drop out of graduate school, quit his job, and move back in with his parents. In this new situation, Tom found himself facing similar challenges to many people diagnosed with dystonia. Tom was previously a competitive athlete in several sports, an entrepreneur, and a self-sufficient full-time student. So suddenly requiring the help of others to function was difficult to accept. “The transition from an active, independent person to a disabled person almost completely dependent on others was devastating,” says Tom. “I was 30 years old at the time and felt like I was in the prime of my life.”

The pain became so severe that Tom was unable to cook, clean, or do laundry. Everything he could do was with one hand, because he needed the other to support his head and neck. For 6 to 8 months, Tom spent his days almost completely immobilized. He would be lying in bed or on the floor even when eating. Over time, he developed scoliosis due to his body maintaining a twisted posture for so long. To cope, Tom began drinking more and eating a lot of unhealthy foods, despite a background in health and nutrition. Over the course of 5 years, he gained 150 pounds. This not only added to his health issues but also gave him a sense of powerlessness from his newfound disability.

Today, Tom reflects about just how much of this radical shift in his health was tied to the sudden isolation and loneliness of disability. “Thinking back, maybe I didn’t feel badly enough or care enough to make changes,” he says, “but more than anything, I felt so alone and didn’t really know what first step to take.” This lack of resources and support would eventually lead to his turn toward advocacy for those living with similar conditions.

A Turn Toward Advocacy and Empowerment

In December of 2006, Tom caught a severe stomach virus and was sick for almost two weeks. “I rarely get sick,” Tom says, crediting this illness as a much-needed wake-up call: “While this was not the type of motivation to change I would have chosen, this was exactly what I needed to jump start my brain into action.” During these two weeks he lost 15 pounds, and he spent a lot of time reflecting on those elements of his health that were under his control. Realizing that failure to act now would result in worsening health problems in the future, he committed himself to changing his habits and investing in his own care.

In the next year and a half, Tom went from 330 to 190 pounds by focusing on living a healthy lifestyle. That included taking daily walks. He also began to diligently follow a targeted stretching and exercise program to help manage his dystonia symptoms. In doing these exercises, he found significant, persistent improvement in his neck pain.

Tom started working to help others by providing strategies for living with physical and mental health conditions. He also provided advice for dealing with other life challenges. Tom now works as a certified professional life coach, motivational speaker, chronic pain and dystonia awareness advocate, health blogger, and volunteer support group leader for the Dystonia Medical Research Foundation (DMRF). He has also written two books about his journey with dystonia. Currently, he writes for the Chronic Illness Bloggers Network, The Mighty, Patient Worthy, and The Wellness Universe.

“Life is certainly much better, but I still have problems with my neck and back that prevent me from doing some activities,” he says. “Every day I have to carefully balance my work and other activities with rest and self-care. I have had to learn to modify my life and embrace the new me with different abilities and interests.”

Embracing a New Start

Today, Tom embraces the challenges of what is to come and is learning to let go of his past. Dystonia has impacted his life in many unforeseen ways. But Tom believes that sometimes our greatest challenges can also be our greatest teachers. Helping others to balance these challenges with self-acceptance and gratitude for new opportunities has given him a newfound purpose.

“No matter what we are going through, if we never give up hope and trust that there is a way through our challenges, our lives can be transformed in very meaningful ways,” says Tom.

The American Brain Foundation is committed to finding cures for the brain diseases and disorders that affect 1 in 6 people. 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.

A neurologist and sleep medicine specialist explain how sleep impacts our brain health and how to regulate our circadian rhythms for optimal sleep.

It’s estimated that at least 50 million Americans suffer from a sleep disorder. But sleep—both the quantity and quality—is crucial to our brain health. Research has now shown a correlation between sleep disturbances and numerous neurological diseases. These include stroke, cognitive aging, dementia, Parkinson’s disease, and others.

The brain is complex and interconnected. The American Brain Foundation believes finding a cure for one brain disease will help find cures for others. Just as well, the association between sleep and brain health illustrates how one issue can be linked to multiple diseases.

In our recent webinar, Phyllis C. Zee, MD, PhD, Chief of the Division of Sleep Medicine at Northwestern University’s Feinberg School of Medicine, spoke about how sleep and our circadian rhythms play an important role in brain health.

The Role of Sleep and Circadian Rhythms

The “master clock” of the brain, the suprachiasmatic nucleus, controls many systems of the body exhibiting rhythmic activity patterns. Our body systems follow a cycle of rest and activity, synchronized with each other to help the body function. This means sleep is regulated by our bodies at the cellular and molecular level. “Similarly, the circadian rhythm, or these near 24-hour biological rhythms, have been shown to be genetically regulated and they exist in almost every cell of our body,” says Dr. Zee.

It’s a two-way relationship. Our brains and bodies regulate our sleep and circadian rhythms. Equally so, our sleep and circadian rhythms affect our brains and bodies. Sleep disturbances have a broad impact on our health and body functions. They’re also linked to an increased risk for disease, including neurodegenerative disorders like Alzheimer’s and Parkinson’s. Some data indicates that sleep and circadian rhythm dysfunction, such as fragmented sleep or night wakings, may be a risk factor for these types of brain disease.

More specifically, research shows that slow-wave sleep, or deep sleep, decreases with age. A lower amount of deep sleep is associated with an increase in beta amyloid. This is a protein that has been found to accumulate in people with Alzheimer’s. When we get quality sleep, the fluids between neurons are better able to flush out large molecules and prevent toxic buildup through a process called the glymphatic flow. Disrupted sleep could therefore increase the risk for neurodegenerative brain diseases.

Additionally, many people with Parkinson’s disease experience REM sleep behavior disorder (RBD), in which they physically act out their dreams, for years before their diagnosis. In this way, the sleep disorder could be considered a prodromal syndrome, or a sign that may precede Parkinson’s. People with RBD are also more likely to develop cognitive problems or dementia.

How to Improve Sleep and Circadian Rhythms to Preserve Brain Health

This connection between sleep and brain health shows us there is potential to prevent and treat brain diseases by improving sleep and circadian rhythms. Dr Zee asks, “If we can improve sleep and circadian rhythms, can they be these targets for disease modification and some of these age-related changes?”

For example, in one study, researchers used a sound that stimulates slow-wave sleep (acoustic stimulation) to improve deep sleep in older adults. The amount of improvement in slow-wave sleep was directly correlated to an improvement in memory. In another study of people with Parkinson’s, timed light therapy improved daytime sleepiness, sleep quality, daily physical activity levels, and Total Unified Parkinson’s Disease Rating Scale score, which measures the severity and progression of the disease.

For our bodies to function well, our internal rhythm needs to be in sync with our external exposure to light and darkness. The retinas in our eyes have receptors that take in different wavelengths of light, both sunlight and artificial, from across the whole spectrum. Matching your internal clock to that of the sun ensures you get the right types of light at the right times. These daily shifts in light and dark affect our sleep and wake cycles, circadian rhythms, metabolism, and energy levels. Our nutrition—when, what, and how much we eat—also provides information to our master clock.

In this way, our lifestyles can affect our sleep and circadian rhythms. That can mean external factors, like our daily schedule or cycles of light exposure, can negatively impact sleep. But it also means lifestyle changes have the power to positively impact sleep.

To start, Dr. Zee recommends setting a regular sleep-wake schedule that will provide 7 to 8 hours of sleep per night. However, she notes that it’s not only how much you sleep but also when you sleep—that is, staying in rhythm—that is important for brain health. Appropriately timed light exposure and eating, as well as regular exercise and activity levels during the day, will help your body stay in rhythm. Also, reduce or avoid alcohol, as it can disrupt your sleep and suppress REM and slow-wave sleep. This causes a rebound effect that awakens you in the early morning hours.

How Much Sleep Is Enough? How Do You Know You’re Getting Enough?

Regularity is key. We all have a bad night here and there. But if it’s chronic it can have a bigger impact on our health. The general recommendation is 7 to 8 hours for adults, possibly closer to 7 hours for older adults. But there are also individual differences based on our unique bodies and needs.

So how do you know you’re getting enough sleep? Consider how you feel during the day. Are you able to stay awake and attentive and carry out your daily activities? Since we can’t get regular imaging of our brains, these daytime indicators help us gauge how much sleep we need.

Can Medications or Supplements Help You Sleep?

Pharmaceuticals don’t typically provide deep sleep. In other cases, they can induce deep sleep all night long. But they also cause people to wake up feeling “hungover” or more tired. When it comes to deep sleep, more is not better. Timing is important: deep sleep is necessary earlier in the night and dissipates closer to morning.

Melatonin affects the circadian system and promotes sleep by decreasing the arousal, or alerting signal, from the circadian clock. With aging, our natural melatonin levels go down. If you choose to take melatonin, be sure to stick to small doses (between half a milligram to 3 milligrams) unless recommended otherwise by your doctor, as high doses can affect your vascular system.

Some people experience insomnia and feel like they can’t “shut down” their brains. In these cases, imaging shows that even while asleep there is a lot of metabolic activity in the brain, sometimes even more than during the daytime. This may account for the fatigue and decreased attention many of those with insomnia experience. Besides medication, cognitive behavioral therapy (CBT) can help address this issue and decrease that arousal.

What’s the Best Way to Measure Sleep?

Most consumer technology devices, like Fitbits, don’t measure the brain-wave sleep that is an indicator of brain health. However, they can still offer insights about your sleeping patterns and wakefulness during the course of the night. During slow-wave sleep or REM sleep, there are physical changes in your body. These include your heart rate, body temperature, and activity levels. Sensors that monitor those levels can use algorithms to predict when you’re asleep versus when you’re awake, and some newer algorithms can even distinguish light and deep sleep. One advantage to these sensors, as opposed to a formal overnight sleep study, is that they measure every day and can give a sense of your sleep regularity over time.

Is There Anything Wrong With Staying Up Late if You Can Still Get 7 to 8 Hours of Sleep?

As Dr. Zee says, “It’s better to live with your clock than against your clock.” The key is getting the right amount of quality sleep during your individual circadian time. For a “night owl,” living with your clock might translate to a later bedtime and wake time, as your schedule allows. But if you need to accommodate your work or social obligations, the use of light exposure and melatonin can help shift your clock.

Will a Nap Help?

Between 1 and 3 p.m., we may feel a natural “afternoon dip” in energy levels. Taking a nap during this time can refresh us, but it won’t make up for lost nighttime sleep. While we may not sleep for 7 to 8 hours straight every night, consolidated sleep is important. That’s because the extended time allows us to move through sleep cycles. You likely won’t hit all the necessary points in a sleep cycle during a nap.

If you have concerns about your sleep, be sure to speak to your doctor. They can recommend lifestyle changes, medications, or supplements that align with your unique biology and circumstances to help you get quality sleep—and ultimately improve your brain health.

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.

MINNEAPOLIS, MARCH 9, 2022 – The American Brain Foundation’s (ABF) annual Commitment to Cures gala will take place on April 6 in Seattle, WA to celebrate the researchers and advocates working toward life without brain disease. The event will honor brain disease advocates, including Seth Rogen and his wife, Lauren Miller Rogen; Susannah Cahalan, bestselling author of Brain of Fire; Dr. Stephen L. Hauser, for scientific breakthroughs in multiple sclerosis; and more.

“We look forward to honoring our incredible awardees and celebrating the progress we’ve made in brain disease research at this year’s gala,” said American Brain Foundation Executive Director Jane Ransom. “We also know that it is only by continuing to fund such research that we will fully realize a future without brain disease.”

This year’s Commitment to Cures event will be held in person, and will also be available to watch virtually at no cost. The goal of the gala is to raise awareness and funds for brain disease research, because without research, there can be no cures. All donations made during the event will go toward finding breakthrough treatments and cures for diseases like Alzheimer’s, multiple sclerosis, and ALS.

The American Brain Foundation takes a whole-brain approach to research based on the understanding that when we cure one brain disease, we will cure many. The Foundation funds research across a spectrum of brain diseases, knowing that findings in one area or disease will have implications for others.

“The award recipients being honored at this year’s event are making crucial strides in brain disease research that will lead to tomorrow’s innovations, advances in treatment, and cures,” said event host and American Brain Foundation Chair David Dodick, MD, FAAN. “Discoveries in one area of brain disease research can unlock insights and potential treatments in numerous others. Every dollar toward research counts, and only with the help of sponsors and supporters can we continue to fund the kind of research that will make life without brain disease a reality.”

Commitment to Cures provides an occasion to honor those who are making an impact in the field of brain disease research. This year, ABF recognizes the following 2022 awardees:

  • Seth Rogen and Lauren Miller Rogen – Public Leadership in Neurology Award: Seth Rogen and Lauren Miller Rogen will be honored for their work supporting families experiencing dementia and inspiring the next generation of Alzheimer’s advocates and researchers. They have used comedy to raise more than $15 million through their organization, Hilarity for Charity.
    Former honorees include Michael J. Fox, Dame Julie Andrews, Walter Mondale, Emilia Clarke, Sidney Crosby, Ann Romney, and more.
  • Susannah Cahalan – Ambassador Award: Journalist and author Susannah Cahalan will be honored for her work elevating public awareness of anti-NMDA receptor encephalitis, an autoimmune disease that attacks the brain, and the experiences of people living with rare brain diseases. Cahalan’s New York Times bestselling memoir, Brain on Fire, is a transparent account of her personal experience—from hospitalization to diagnosis and recovery. Through her continuing advocacy work, Cahalan has worked to shine a light on the need for research and the importance of support in the patient experience.
  • Stephen L. Hauser, MD – Scientific Breakthrough Award: Dr. Hauser is being honored for his career-long commitment to advancing our understanding of the genetic basis, immune mechanisms, and treatment of multiple sclerosis. His research led to the development of B cell therapies for people with multiple sclerosis, changing the landscape of treatment and representing a powerful new approach for progressive forms of the disease.
  • Barbara S. Giesser, MD, FAAN – Ted M. Burns Humanism in Neurology Award: This award celebrates a doctor or researcher whose work embodies humanism and inspires neurologists to improve health care delivery and the lives of their colleagues and patients. Dr. Giesser is being recognized for her innovative, patient-centered approach to treatment for people living with multiple sclerosis, as well as her career-long advocacy for MS education and awareness.
  • Vladimir Hachinski, MD, DSC, FAAN – Potamkin Prize for Research in Pick’s, Alzheimer’s, and Related Diseases: The Potamkin Prize is the highest honor in Alzheimer’s research. Dr. Hachinski is recognized with this year’s award for crucial early contributions that clarified the distinction between Alzheimer’s disease and vascular dementia, opening the door to modern dementia research.
  • Matthew C. Kiernan, AM, MBBS, PhD, DSc – The Sheila Essey Award: An Award for ALS Research: Dr. Kiernan will be honored for his work establishing new consensus guidelines and novel disease biomarkers for ALS. In addition to simplifying diagnosis, his research has helped develop important techniques for studying disruption of brain networking in ALS.
  • Aneesh Singhal, MD, FAAN – Association of Indian Neurologists in America Lifetime Achievement Award – This award recognizes a leader in neurology for their career-long support of North American neurologists of Indian origin, as well as clinical and scientific contributions to the field. Dr. Singhal is honored this year for his dedication to advancing the training of many colleagues of Indian origin as well as promoting innovation and research in the field of stroke.
  • Bindu Menon, MD, DM, DNB, PGDCN, FRCP, MNAMS, FICP, FIAN, FWSO and Bruce Ovbiagele, MD, MSc, MAS, MBA, FAAN – Mridha Spirit of Neurology Humanitarian Award – The Mridha Spirit of Neurology Award recognizes the humanitarian work and community impact of neurologists dedicated to serving impoverished and underserved populations.
    • Dr. Bindu Menon is being honored for her work to bring neurological care to some of the most under-resourced communities in India. Her innovative “Neurology on Wheels” project works to increase access to neurological health education, screening, and treatment for rural Indian communities.
    • Dr. Bruce Ovbiagele has dedicated his career to improving neurological research training for underrepresented groups and removing structural inequalities from training opportunities. This award recognizes his work to improve stroke care, research, and training in sub-Saharan Africa.

The Public Leadership in Neurology Award, Ambassador Award, Scientific Breakthrough Award, Potamkin Prize, and Sheila Essey Award will be presented at Commitment to Cures on April 6.

“I can’t find the words to express how honored I am to receive the American Brain Foundation’s Ambassador Award,” said Susannah Cahalan. “When I became the 217th person in the world to receive an autoimmune encephalitis diagnosis, it was unclear if I’d ever write again, let alone write a book that would help so many others. I’m overwhelmed with gratitude, as I also reflect on how lucky I am to be here accepting it.”

All proceeds from the Commitment to Cures event on April 6, 2022—both in person and virtually—will go toward funding crucial research that will advance the fight against brain disease.

To register, make a donation, or learn more about the American Brain Foundation, visit AmericanBrainFoundation.org/C2C2022.

 

About the American Brain Foundation:

The American Brain Foundation was founded to bring researchers and donors together in the fight against brain disease. We focus on the full spectrum of brain diseases and disorders because we believe that when we cure one disease, we will cure many. To learn more, visit our website and find us on Facebook, Twitter, Instagram, and LinkedIn.

 

Media Contact

Ashley Logan

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The latest brain disease research discovers the important role of specific parts of the brain and the impact of different lifestyle factors.

In this month’s news round-up, we cover new research on how specific parts of the brain can be a link to disease. We also learn how COVID-19 infection, vitamin deficiencies, and other factors affect the brain.

Microglia May Play a Critical Role in Brain Disease

Recently, researchers created the largest and most thorough collection of microglia, the brain’s immune cells, of its kind. The samples came from deceased people with prior neuropsychiatric and neurodegenerative disease diagnoses. Taking a closer look at microglia’s role in the brain, the study’s findings strengthened evidence that microglia may have some link to Alzheimer’s and Parkinson’s disease. Certain differences in DNA sequences increase a person’s risk of developing these diseases. As a result, some of those differences, may trigger disease by altering genetic activity in a person’s microglia. The process of aging may also have an impact.

How Long COVID is Associated With Neurocognitive Symptoms

In an international study, 88% of people with long COVID (ongoing symptoms that persist for weeks after a COVID infection) reported memory problems and cognitive dysfunction. The term “neuro-COVID” is often used to describe these specific symptoms. These include ongoing brain fog and difficulties with concentration and memory. Researchers found that even individuals with mild to moderate COVID infections showed changes in brain scans compared to those with no evidence of contracting COVID: a greater loss of gray matter in the brain, more signs of tissue damage and generalized atrophy, and a larger cognitive decline. As research investigates COVID’s impact on the brain, there are two leading hypotheses for why neuro-COVID happens. One is neurotropism, or direct infection of the brain with the virus, the other an inflammatory response.

Vitamin Deficiencies Can Lead to Neurologic Problems

Low levels of certain vitamins and minerals can cause neurologic issues, including cognitive impairment, nerve damage, or increased risk of brain disease. Deficiencies typically occur due to malnutrition or certain diseases that affect the body’s absorption of vitamins and minerals. Important vitamins for brain health include vitamin B12, copper, vitamin D, and folate or folic acid. If you’re concerned about vitamin deficiencies, your doctor can assess your symptoms and take blood tests to measure your levels. Based on your results, your doctor may recommend adding certain foods to your diet or taking oral supplements.

A Link Between Two Parts of the Brain Could Help Regulate Neuropsychiatric Disorders

Researchers have found a link between two parts of the brain often associated with neuropsychiatric disorders. One part is the default mode network, a key part of the brain’s functional organization; the other is alpha oscillations, the brain activity associated with attention and imagery. Disruption of the default mode network has been linked to a range of brain disorders. Those include Alzheimer’s disease, post-traumatic stress disorder, schizophrenia, and depression. This study found that using transcranial stimulation (magnetic pulses that activate nerve cells) on alpha oscillations helped regulate the default mode network. From a clinical perspective, this link could offer an effective, non-invasive therapy option for regulating the brain network that disease can often disrupt.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. Find more resources and information on research grants on our website.

The Ted M. Burns Humanism in Neurology Award recognizes the influence of the most compassionate and innovative neurologists in the field.

We are proud to announce the recipient of the 2022 Ted M. Burns Humanism in Neurology Award: Barbara S. Giesser, MD, FAAN, Pacific Neuroscience Institute. The Ted Burns Award goes to a member of the neurology profession who brings creativity, advocacy, and innovation to their work. By honoring these outstanding neurologists, this award strives to inspire others to improve healthcare delivery and the lives of their colleagues and patients.

For the past 40 years, Dr. Barbara Giesser has specialized in diagnosis and personalized treatment for people with multiple sclerosis (MS). Her approach emphasizes integrating lifestyle and wellness strategies into the neurologic treatment plan. She has also conducted peer-reviewed research on exercise as a therapeutic method. In addition, she has served as a consultant for the National Multiple Sclerosis Society.

The award selection committee praised Dr. Giesser’s commitment to humanism in patient care, education, and advocacy work, saying, “Dr. Giesser displays a humanism that is unparalleled and captures the essence of what it means to be a caring mentor, educator, and healthcare provider. She epitomizes the aims of the Ted M. Burns Award to celebrate neurologists whose work embodies humanism in patient care, education, advocacy, and everyday encounters.”

Additionally, “Dr. Giesser is a nationally recognized advocate for MS education and awareness, and she is lauded by colleagues, patients, and students for her patient-centered approach.” Since 1982 she has been a leader in patient advocacy and education, with over 100 publications, including peer-reviewed research, reviews, and textbooks. Dr. Giesser received numerous accolades and awards, including the Ronald Reagan UCLA Medical Center “Exceptional Physician Award,” as well as joining the National Multiple Sclerosis Society’s Volunteer Hall of Fame in 2018. She also received recognition as one of the “Best Doctors in America” since 2005.

“I am thrilled and honored to be recognized for doing what I love. I accept this award on behalf of the wonderful mentors and role models whom I have been fortunate to encounter in my life, most importantly my parents and my patients,” says Dr. Giesser. “When one is faced with the technological advances and administrative labyrinths inherent in modern healthcare that may strip individual patients of their humanity, it is very reassuring that the AAN and ABF are facilitating formal recognition of humanism in the practice of medicine at this time.”

Join us for a special virtual event honoring Dr. Giesser on March 16 at 8 p.m. ET. You can find additional details and register for the event here.

Click here to learn more about the Ted M. Burns Humanism in Neurology Fund, including ways you can support the important work coming from researchers like Dr. Giesser and others.

The American Brain Foundation believes that when we find the cure to one brain disease, we will find cures to many others. Learn more about the groundbreaking brain disease research we fund here.

A neurologist and expert on neurodegenerative diseases shares what we know about multiple sclerosis and what we still need to learn.

Multiple sclerosis (MS) is a brain disease that affects 2.5 million people worldwide and about 1 million Americans. The American Brain Foundation funds annual research on MS through Next Generation Research grants in collaboration with the American Academy of Neurology. We are committed to sharing resources and building public awareness of brain disease. As part of that, our webinars connect donors and the general public with experts in various topics in brain disease.

In a recent webinar, the American Brain Foundation welcomed Raymond Roos, MD, previous member of the Foundation’s research advisory committee and the Director of the Amyotrophic Lateral Sclerosis clinic and the Marjorie and Robert E. Straus Professor in Neurological Science. Dr. Roos shared what we know about multiple sclerosis, thanks to groundbreaking discoveries over the past couple of decades. He also discussed what we still need to learn and the research happening in those areas.

What We Know About Multiple Sclerosis

Multiple sclerosis is a central nervous system disease, which means it affects the brain and spinal cord. In the case of MS, myelin (a protective substance that surrounds nerve cells) is damaged. This damage, called demyelination, is associated with inflammation. When demyelination and inflammation occur, the messages sent through the nerve are interrupted. “The nerve process—the axon—degenerates,” says Dr. Roos. “And whereas we may have reasons, opportunities, and drugs that stop the inflammation pretty well, the axonal degeneration is a problem.”

MS has two categories. One is relapsing-remitting, a series of improvements and setbacks with no continuous trend. The other is progressive, where patients’ conditions steadily degenerate or get more severe. Diagnosis is based on two separate attacks or progression over six months that cannot be explained by another disease. MRI has helped doctors and researchers learn a lot about MS. Doctors can use MRI to see lesions in the brain and make a diagnosis.

While the exact cause of MS is unknown, research has found that genetics and environment may play a role. If a person has a close relative with MS, they have an estimated 10- to 20-fold increase in developing the disease themselves. Research has also identified certain genes that may have a link to MS. According to Dr. Roos, people with an increased risk don’t necessarily need to monitor for MS with MRI scans or do genetic testing. It’s more of a way to help researchers identify a cause or help doctors diagnose the disease. Environmental factors may have an effect as well. For example, areas near the equator seem to have a much lower level of risk. but researchers are not sure why.

We currently have many treatment options for MS. Drugs that target the immune system are often effective. Since the 1990s, scientists have found several medications to treat the symptoms of MS, including bladder and bowel problems, depression, dizziness, fatigue, pain, abnormal movements, and muscle weakness or spasticity. We also have therapies that target MS, including injections, oral medications, and infusion treatments.

What We Need To Learn

There are still questions we need to answer about MS, and that’s where research continues to focus. During the webinar’s question-and-answer portion, Dr. Roos shared some aspects of MS that we need more research to understand.

Scientists don’t know exactly what causes MS, whether certain viruses can trigger the disease, how to prevent it, what predicts the course of the disease, or when an attack will happen. “We don’t really know what’s driving this disease,” says Dr. Roos. “That’s a big question.” While researchers have already discovered so much about the immune system, they still have much more to learn about effective treatments.

It’s unclear which treatment options are best to start with, which one to switch to if a specific therapy doesn’t work or a person has a relapse, whether to continue taking medication during pregnancy, or at what age to stop the treatments. We also need more targeted drugs and more information on treating progressive MS effectively.

From previous research, we know about 50% of people with relapsing-remitting MS develop progressive MS. Now that there are more effective drugs to treat MS, that number may actually be lower. But we don’t yet have many effective drugs for progressive MS specifically. In the meantime, the goal is to treat relapsing-remitting MS early, before too much damage happens and the disease becomes progressive.

Pioneer research areas include how the gut microbiome (the helpful bacteria in our gastrointestinal tract) can impact the immune system or affect MS symptoms and if (or how) stem cell therapy could be used to treat MS. We also need more data on the effectiveness of SARS-Cov-2 (COVID-19) vaccines while taking medication for MS, as both the vaccine and medication impact the immune system.

Hope for the Future

Researchers have made incredible progress despite all these unanswered questions, and there is hope for the future. “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,” says Dr. Roos. “I understand we don’t have a cure [for MS] right now. But we have fantastic technologies at present. What could be done now wasn’t in the realm of imagination five years ago.”

The American Brain Foundation believes that if we cure one brain disease, we will cure many, and this applies to finding a cure for MS. “MS, we think, is an autoimmune disease, and we have a number of autoimmune diseases,” says Dr. Roos. “I think if we understand MS, it will bring us closer to understanding many autoimmune and neuroinflammatory diseases.” Scientists have learned so much about MS already, and with more research, we have the potential to better understand what causes this disease, how to prevent it, and how to most effectively treat it.

The latest brain disease research expands the possibilities for new ways to prevent and treat disease.

In this month’s news roundup, learn how art is helping people with neurologic conditions. We also look into an expansion of a Parkinson’s study and research on amyotrophic lateral sclerosis (ALS) in football players. Finally, we discuss a new autism marker and its connection to epilepsy.

Art Programs Engage People With Neurologic Conditions

Research shows that singing, dancing, painting, and listening to music have the power to improve movement, behavior, and cognition in people with neurologic disorders. Throughout the country, organizations are offering art programs to engage people with dementia and other conditions. The programs connect patients to museums, galleries, and studio spaces where they can learn about and create art, bringing them joy and even relieving symptoms. Virtual versions allow participants to take an online museum tour. They can also use mailed supplies to create art with a caregiver’s assistance. Other art programs use music and visual arts to educate school-aged children about stroke, migraine, concussion, and more, and spread awareness in their communities. Learn more about these art programs here.

Michael J. Fox Foundation Expands Research on Early Signs of Parkinson’s 

The Michael J. Fox Foundation is expanding its landmark research initiative and plans to recruit 100,000 individuals to provide data. This new phase of the study will include people who have been diagnosed with Parkinson’s, some who do not have Parkinson’s, and others who have progressing disease. The data will help researchers identify changes that happen before or at the onset of Parkinson’s disease. The ultimate goal is to understand how to predict and prevent Parkinson’s disease. Learn more about this research initiative here.

Large Study Finds Higher Rate of ALS Among NFL Players

New research found that professional football players in the NFL are four times more likely to develop and die from amyotrophic lateral sclerosis (ALS) than the adult male population. This is said to be the largest study of ALS risk in football players, examining data from 19,423 players from 1960 to 2019. Scientists have not yet determined why the rate of ALS is so much higher for these athletes. However, they think repetitive head impacts and traumatic brain injuries could play a role. The length of a player’s career, as well as lifestyle and environmental factors, may also increase risk. Read more about this study here.

New Autism Marker Could Help Treat Autism and Epilepsy

Researchers discovered that a specific brain protein that quiets overactive brain cells is at abnormally low levels in children with autism, which can lead to seizures. About 30-50% of children with autism also have epilepsy. This protein marker, found in cerebrospinal fluid, could help diagnose autism and potentially treat epilepsy. Discovering the protein and its role in calming the brain may lead to new treatments that work to increase levels of the protein. This is the first study to show cerebrospinal fluid as an important biomarker for autism. Learn more about this investigation here.

Stay updated on the latest news from the American Brain Foundation by following us on Twitter and Facebook. Find more resources for patients and information on research grants on our website.

The American Brain Foundation is thrilled to announce the recipients of the 2022 Cure One, Cure Many Award for the early diagnosis of Lewy body dementia: Owen A. Ross, PhD, Pamela J. McLean, PhD, and Bradley F. Boeve, MD from Mayo Clinic. The major goal of the assembled team is to drive the development and validation of a blood-based biomarker to identify overt and prodromal dementia with Lewy bodies. 

Lewy body dementia (LBD) is the second most common form of dementia but has largely been understudied. Research into Lewy body dementia has implications for Alzheimer’s and Parkinson’s diseases, which is why the Alzheimer’s Association and The Michael J. Fox Foundation for Parkinson’s Research are sponsors of this $3 million, multi-year research award. 

“This award to find a biomarker for LBD offers the hope that this will lead to an accurate method of diagnosing the disease and give patients and their loved ones clarity about the prognosis. This will also allow researchers to better study LBD and develop effective therapies,” said Orly Avitzur, MD, MBA, FAAN, President of the American Academy of Neurology. 

Currently, LBD can only be definitively diagnosed with a brain autopsy after death, so the need to identify a biomarker (an avenue for early diagnosis) is crucial. Former American Brain Foundation Board Vice Chair Susan Schneider Williams spearheaded this initiative in honor of her late husband, actor and comedian Robin Williams. She received the diagnosis of his Lewy body dementia after his death.

“If we’d had a diagnosis while my late husband Robin Williams was alive, it could have been a game-changer, full stop. This disease can progress very quickly, and without accurate diagnosis, too much time is lost in the chase. That was our experience,” said Schneider Williams.

Schneider Williams recently completed her six-year term on the American Brain Foundation board of directors and will continue to support advocacy projects to help raise awareness and funds for LBD.

Major funding for the American Brain Foundation 2022 Cure One, Cure Many Award is provided by sponsors, the Alzheimer’s Association and The Michael J. Fox Foundation, and with generous support from The Mary E. Groff Charitable Trust and the William Siegel Foundation. The American Brain Foundation’s research partner is the American Academy of Neurology

“There is an urgent need for simple, inexpensive, non-invasive, and easily available diagnostic tools for LBD, such as a blood test. Uncovering markers that distinguish one dementia from another will ultimately lead to a more accurate diagnosis and can help people living with the disease get the specific care and support they need,” said Heather Snyder, PhD, Alzheimer’s Association vice president of medical and scientific relations. 

Senior Vice President of Research Resources at The Michael J. Fox Foundation, Jamie Eberling, PhD, reiterated the need and importance of partnership. “Cures for brain diseases such as LBD and Parkinson’s will come only from collaboration. Biology and clinical experience cross diagnostic lines, and the outcome of this awarded project will have impact in broader research,” said Eberling.

These partnerships highlight the interconnectedness of brain diseases as well as the American Brain Foundation’s effort to create awareness that when we cure one brain disease, we will cure many. LBD and other neurodegenerative diseases like Alzheimer’s and Parkinson’s disease share many similarities in presentation and symptoms. As a result, they are often mistaken for one another, which hinders diagnosis, treatment, and research. Investigations into LBD could have implications for other brain diseases like Alzheimer’s and Parkinson’s. 

“The American Brain Foundation promotes and invests in research across the whole spectrum of brain diseases and disorders in the belief that when we find a cure for one brain disease, we will find cures for many. Our holistic approach focuses on building bridges between different brain diseases to break new ground in both research and application,” said Jane Ransom, the Foundation’s executive director.

The award recipients have extensive experience in Lewy body disorders and have assembled a team of experts across a range of disciplines. They have taken a multipronged approach to support the diagnosis of Lewy body dementia by employing protein biomarkers, extracellular vesicles, and seed aggregation assays. Investigators at Mayo Clinic are joined by colleagues at the University of Pennsylvania (Dr. David Issadore) and the University of North Texas Health Science Center (Dr. Sid O’Bryant). The data generated will be combined with a vast amount of clinical, imaging, and pathologic data available to the investigators, and machine learning approaches will be used to create a unified diagnostic model.

 “We have taken a coordinated team approach to the development, validation, and acceleration of DLB-related biomarkers and believe an early and accurate diagnosis is critical to tackling this disease,” said Dr. Ross, research team lead

We heard directly from Dr. Ross and others during our free webinar on February 21, 2022. During the event, we heard about ongoing research and the impact the 2022 Cure One, Cure Many Award will have on people who experience Lewy body dementia. 

Watch a recording of the webinar, donate to the research fund, or learn more about the Cure One, Cure Many Award here. 

The brain is a complex organ made up of distinct but interconnected parts. Because of this interconnection, the American Brain Foundation supports research across all brain diseases. This comes from the belief that if we cure one, we will cure many. When a scientific breakthrough is made in one area of brain disease research, that insight can lead to a better understanding of other diseases. These connections allow researchers to find effective prevention, diagnosis, and treatment methods. They can then apply them to more diseases, ultimately benefiting more people.

Two significant connections across brain diseases are neuroinflammation and neurodegeneration. We’ll take a deeper look at each of these terms and how they can be related. We’ll also discuss what these connections mean for brain disease research.

Neuroinflammation’s Role in the Brain

Inflammation is the immune system’s natural response to injury or illness. Neuroinflammation happens when an illness, injury, or other issue causes inflammation within the nervous system. Inflammation in the brain and spinal cord occurs with many brain diseases and disorders, particularly autoimmune and degenerative ones.

Inflammation can play a positive role in brain health. Whether neuroinflammation is beneficial or not depends on context, intensity, and duration. For example, if the brain experiences tragedy or trauma, an inflammatory response helps drive repair processes. It helps promote immune conditioning and neuroplasticity (the brain’s ability to alter connections after an injury). But if the inflammation goes on for too long, it can cause damage.

Neuroinflammation Can Lead to Neurodegeneration

High levels of neuroinflammation may accelerate brain aging and contribute to the progression of certain brain diseases. Neurodegenerative diseases often involve a progressive decline of the nervous system. These diseases include Alzheimer’s disease and related dementias, Parkinson’s disease, and Lewy body dementia (LBD).

Emerging research is uncovering the causes of these diseases. This includes abnormal protein deposits and brain metabolism, brain cell death, and, as discussed earlier, inflammation. “This new science is showing that not only are some of these mechanisms common to multiple brain diseases associated with aging but that they are also present in other disorders earlier in the lifespan,” says Frances Jensen, MD, FACP, FAAN, who is on the American Brain Foundation’s board of directors.

Research supports this connection between neuroinflammation and neurodegeneration. For example, neuroinflammation may be a major component of the symptoms and progression of Parkinson’s disease, as inflammation can lead to brain cell death. Multiple sclerosis (MS) is also characterized by an inflammatory process in which the immune system attacks the coating of nerve cells. Finally, research on brains affected by Alzheimer’s disease has shown that an increase in inflammation can contribute to neurodegeneration.

What These Brain Disease Connections Mean for Research

Understanding neuroinflammation better can help researchers and doctors know where, when, and how to increase or decrease inflammation within the central nervous system. Regulating inflammation could improve treatments for many different brain diseases, including neurodegenerative ones.

For example, current research is looking at how an anti-inflammatory diet may reduce chronic inflammation or help with recovery from a traumatic brain injury. This diet involves avoiding processed foods and eating more produce, whole grains, and lean protein. It’s also possible to reduce inflammation by exercising regularly and staying at a healthy weight. Managing conditions like high blood pressure and diabetes also help.

Neurodegenerative diseases often share similarities and have overlapping symptoms, so it can be difficult to diagnose them accurately. Accurate diagnostic tests for these diseases are essential to developing effective treatments. As one example, the American Brain Foundation’s 2022 Cure One, Cure Many Award, in partnership with the Alzheimer’s Association, The Michael J. Fox Foundation for Parkinson’s Research, and the American Academy of Neurology, funds the search for a biomarker to diagnose LBD. If researchers can uncover a diagnostic test for one disease, it may help them better understand and treat others.

By the time someone learns they have a neurodegenerative disease, it is often too late to do anything except treat the symptoms. Clinical trials across different neurodegenerative diseases hope to identify early signs of brain disease before symptoms appear or while symptoms are mild. With this information, a person may be able to start treatment early or even prevent the disease from developing.

The similarities across brain diseases marked by neuroinflammation and neurodegeneration mean breakthroughs in one area can help diagnose, treat, and prevent others. Through these connections, we expand the impact of new discoveries and move closer to finding cures.

Funding one area of brain disease research not only brings us closer to a cure for that disease, but it can also help us understand other related diseases. Give now to support groundbreaking research.

Our recent webinar brought together donors and researchers who are committed to finding better prevention, treatments, and cures for dementia.

 

With its hallmark characteristic of dementia, Alzheimer’s disease touches many individuals and families. While there is no cure and the disease ultimately ends in death, John C.Morris, MD, recently shared a number of reasons to have hope and optimism for the future.

Dr. Morris is the Director of the Knight Alzheimer Disease Research Center at Washington University in St. Louis. He has served on the ABF research advisory committee and led our 2022 Cure One, Cure Many Award initiative. It’s a research award dedicated to finding a biomarker for Lewy body dementia, the most common form of dementia after Alzheimer’s disease.

For the first time since he joined Alzheimer’s research in 1983, Dr. Morris believes there now is a great opportunity to develop effective therapies, including drugs currently under evaluation for treatment. He also recognizes an important recent advance in diagnosis.

A Controversial New Drug for Alzheimer’s Treatment

2020 will be remembered not only for the COVID-19 pandemic but also two key advances in Alzheimer’s disease. The first started in July 2020, when the pharmaceutical company Biogen submitted data for a drug to the Food and Drug Administration (FDA) to gain approval for its use for the treatment of Alzheimer’s disease. “This has been a long time coming,” says Dr. Morris. “We have had drugs approved by the FDA for the treatment of the symptoms of Alzheimer’s dementia, but nothing [before] to actually treat the disease process itself.”

The drug, aducanumab, is an antibody that targets amyloid beta. It’s a brain protein that, when misformed, supposedly causes the onset of the Alzheimer’s disease process. The drug looks for deposits of amyloid beta in the brain and remove them. While other drugs of the same class do the same thing, those drugs did not see any improvement in patients. Biogen believed their data showed aducanumab does benefit patients by slowing the progression of Alzheimer’s.

After extensive deliberation, the FDA approved aducanumab on June 7, 2021. It was the first new drug for the treatment of Alzheimer’s disease in two decades.  It is important to recognize, however, that the FDA’s approval was based on the drug’s ability to reduce the amount of amyloid plaques in the brains of people given the drug. Whether the plaque removal provides clinical benefit to patients remains uncertain.  Further studies with this drug and others like it hopefully will settle the question of whether anti-amyloid therapies alone can benefit people with Alzheimer dementia.

Nonetheless, having an approved disease-modifying therapy “is a game-changer,” says Dr. Morris. “For all the people with Alzheimer’s disease dementia and their families wanting to have access to the drug, we will need big changes in our capacity to diagnose and treat Alzheimer’s disease dementia.”

Before people can have access to aducanumab, they will need a firm diagnosis of Alzheimer dementia. They’ll also need confirmation that they have amyloid plaques in the brain. Both of these criteria present several challenges. To start, many cases of Alzheimer’s go undiagnosed because doctors don’t recognize or diagnose it. Confirming amyloid plaques in the brain currently requires a PET scan or an analysis of cerebrospinal fluid, obtained by a spinal tap. But not all patients have access to such sophisticated and costly PET imaging or are willing to have a spinal tap.

Once someone gets approval for the drug, they would receive it monthly as an intravenous infusion. But presently infusion centers do not have the capacity to add large numbers of Alzheimer dementia patients. Patients would also need regular MRI scans to monitor for any brain swelling, the most common side effect for aducanumab, which occurred in approximately a third of people studied. Additionally, the studies included in Biogen’s data looked at people with very mild Alzheimer dementia. So those with more progressed dementia are ineligible because it isn’t known how the drug would work for these cases.

Despite these challenges, there is still reason to be hopeful. Drugs other than aducanumab are currently under development and study and show similar promise. “I think we are on the cusp of finding…drugs that really do remove the brain pathology of the amyloid plaque and the hope is that they thus will truly benefit patients,” although this remains to be established, says Dr. Morris.

A Blood Test for Diagnosis

The second big breakthrough in 2020 was the development and release of a blood test to diagnose Alzheimer’s disease. The test measures a person’s levels of amyloid beta. “Abnormal levels of amyloid beta in someone’s blood will, with 90% certainty, indicate whether the person has amyloid beta in the brain in the form of amyloid plaques.

Previously, doctors could only gain this information through amyloid PET scans or by cerebrospinal fluid analysis, which are typically only available in large academic medical centers. Moreover, such tests are costly, and Medicare doesn’t cover them. In contrast, a blood test is much more accessible to people.

The blood test was released for clinical use in November 2020. It received a Breakthrough Device designation by the FDA in October 2021. “This is another potential game-changer,” says Dr. Morris. “If you’re concerned that you might have Alzheimer’s disease dementia, now a blood test is available, and it will, I think, really advance the ability to make an accurate diagnosis.”

The test is currently marketed for people with symptoms of dementia to provide support for an Alzheimer’s diagnosis. Dr. Morris said doctors can order the test. But because it has not received FDA approval, neither insurance nor Medicare will cover it. So the patient will have to pay an out-of-pocket fee. He is hopeful that, with time, the test will prove its value, leading third-party payers to cover the test.

Many different diseases have a link with dementia, which further underscores the importance of making an accurate diagnosis. “As a whole, with new means for diagnosis and… [the] possibility of a disease-modifying drug therapy, the field is poised for truly meaningful changes in diagnosing and treating Alzheimer’s disease,” says Dr. Morris.

The Impact of New Breakthroughs and What the Future Holds

Alzheimer’s disease is age-associated, which means the longer we live, the more risk we have of developing Alzheimer’s disease dementia. As the populations of many countries around the world keep getting older, Alzheimer’s is affecting more people. It’s an important disease to study due to its impact on so many populations, and its interconnections with other brain diseases.

Dr. Morris spoke to the overlap between people with Alzheimer’s and those with Parkinson’s. Some people with one disease may develop symptoms of the other, making an accurate diagnosis even more complex. But this also means that as research brings us new ways to prevent, diagnose, and treat Alzheimer’s, these breakthroughs will also have an impact on other brain diseases and types of dementia.

Dementia results after two decades or more of brain plaques developing and causing other  brain processes that damage brain cells. Once brain cells are dead, brain function is compromised and dementia symptoms appear. “[Prevention] is a very important area for Alzheimer’s research,” says Dr. Morris. “[To] give an analogy from our colleagues in cardiovascular medicine…. they would much prefer to prevent coronary artery disease rather than initiate therapy only after a heart attack occurs… And it’s the same with the brain. Let’s try to treat the Alzheimer’s disease process before substantial brain damage occurs and dementia appears.  Prevention therapy aims to delay the onset of dementia or even prevent it entirely.” He considers the possibility that in the future, we will have a treatment we can start as amyloid plaques start to build, prior to substantial brain damage.

We don’t yet know whether or how certain lifestyle practices might reduce the risk for Alzheimer’s disease, especially in light of potential genetic or environmental factors. In the meantime, Dr. Morris advocates a heart-healthy diet and staying mentally, physically, and socially engaged, as these lifestyle behaviors are beneficial for a person’s overall health.

While he is hopeful for the current drugs being studied for treatment, Dr. Morris knows the drugs are only treating one of those brain processes, the amyloid process. They do not address the abnormal tau protein, inflammation, or free radicals that come with oxidative stress. “I ultimately think once the disease causes dementia, we might have to think of combination therapies,” says Dr. Morris. “This is, again, not unique to Alzheimer’s disease. That’s what happens in cancer all the time, chemotherapies of different drugs attacking different targets in the cancer-producing illness.”

He thinks people with Alzheimer’s dementia may benefit from a combination of drugs that will help stop the dementia process once it has started. However, research on combination therapies is in its infancy. “Treating Alzheimer’s disease dementia effectively continues to present enormous challenges,” says Dr. Morris. “I would love to be wrong, but it may be many years before we can truly benefit patients with Alzheimer dementia. I am more optimistic about the potential for treatment strategies to prevent dementia, but these also will require many years before we know whether they are successful.  Nonetheless, the two major advances in 2020 provide major hope that we one day will have truly effective therapies to treat Alzheimer’s disease.”

There are still questions to answer and challenges to overcome. But these research breakthroughs offer great hope for the present and for the future. The American Brain Foundation continues to support research to improve the prevention, diagnosis, and treatment of Alzheimer’s disease. Through events like this webinar, we provide information to educate and encourage people with brain disease and their loved ones, generating a wider base of support for research and new discoveries.

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.