Batten disease, also known as neuronal ceroid lipofuscinoses (NCL), refers to a group of rare neurodegenerative disorders that usually begin in childhood. The disorder affects a cell’s ability to break down lipofuscin, a waste product that accumulates in cells over time. Brain cells are particularly vulnerable. The buildup of proteins and lipids (fats) causes cells to gradually lose function and die.
Known forms of Batten disease
Estimated number of U.S. births affected
Children with Batten disease worldwide
Batten disease is inherited and caused by a gene mutation. The disease is recessive, which means a child has to receive two copies of the gene mutation (one from each parent) to be affected.
There are 13 known forms of Batten disease (CLN1 through CLN14). Each form is classified by the specific version of the CLN (ceroid lipofuscinosis, neuronal) gene that causes it, with each numbered subtype referring to a different gene that causes its own respective form of the disease. The most common type of Batten disease is CLN3.
Because Batten disease is associated with different gene mutations, symptoms can vary in severity and progress at different rates. The most common signs of Batten disease include progressive vision loss that leads to blindness, seizures, movement issues, cognitive decline, and dementia. Other symptoms include sleep disturbances and changes in mood, personality, and behavior.
Children with Batten disease will often not meet developmental milestones for standing, walking, and talking, and in some cases they may lose these skills over time. They may also experience learning difficulties, trouble concentrating, and progressive loss of speech and language.
Rarely, symptoms begin in adulthood. In those cases, vision is not affected and symptoms may be more mild.
Symptoms worsen as the disease progresses, leading to cognitive problems, more severe seizures, and loss of sight and motor skills. Eventually, individuals with Batten disease become unable to see, move, or communicate.
Most cases of Batten disease are diagnosed with genetic testing, which uses DNA analysis to confirm the presence of one of the mutated genes associated with the disease. Blood and urine tests, skin or tissue samples, an eye exam, brain imaging, and other tests can also help detect abnormalities or confirm symptoms of Batten disease.
For some individuals, it may take years—and many different diagnoses—before they receive the ultimate diagnosis of Batten disease. Common initial diagnoses include autism and epilepsy. Diagnosing Batten disease has become quicker and more reliable with advancements in genetic testing.
Several genes may be responsible for adult-onset forms of the disease. Since the genetic basis is still unclear, an adult-onset diagnosis usually requires a brain biopsy.
Children with Batten disease have a shortened life expectancy. Those who have symptoms as an infant often die in early childhood, while children with a later onset of symptoms may live until their teens to thirties. Adults who develop the disease can have a normal life expectancy depending on severity of symptoms and progression.
Currently, there is no treatment to reverse the effects of Batten disease. The U.S. Food and Drug Administration has approved the use of cerliponase alfa, an enzyme replacement therapy that can slow or stop the progressive loss of movement for children with CLN2 (a form of the disease in which symptoms start in late infancy). Some medications, including anti-seizure drugs, and physical and occupational therapy can help manage symptoms and improve quality of life.
Current research is focused on understanding more about Batten disease, discovering potential biomarkers, and developing new treatments. Researchers are exploring gene therapy treatments that would deliver a healthy, functioning gene to replace the mutated gene responsible for Batten disease. Other researchers are working to develop new drugs to treat the disease, including one that could treat infantile Batten disease by blocking the harmful buildup of lipofuscin.
NINDS: Batten Disease Fact Sheet
Batten Disease Support and Research Association
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