Neuronal ceroid lipofuscinosis (NCL), or Batten disease, is an inherited neurodegenerative disease. Batten disease mainly affects infants, toddlers and children. It is always fatal.
The symptoms of Batten disease are caused by the buildup of fatty substances called lipopigments in the body’s tissues. As these substances accumulate, they cause the death of cells called neurons in the brain, retina and central nervous system.
Batten disease is one of the most common lysosomal storage disorders.
Are there different forms of Batten disease?
There are 14 known forms of Batten disease, and symptoms and progression can vary widely from person to person. However, all forms generally include some combination of vision loss, epilepsy and dementia. The Batten Disease Support & Research Association (BDSRA) maintains up-to-date information on every known form of Batten disease.
Taylor suffered from CLN1 disease, formerly known as infantile Batten disease.
How common is it?
Batten disease is relatively rare, occurring in an estimated two to four of every 100,000 births in the United States (though many scientists believe this estimate is too low). It affects people worldwide. Because Batten disease is caused by a genetic mutation, it often strikes more than one person in a family.
How is it inherited?
The forms of Batten disease that occur in children are autosomal recessive disorders. This means children must inherit two copies of the defective gene – one from each parent. When both parents carry one defective gene, each of their children faces a 25 percent chance of being affected with Batten disease and a 50 percent chance of being a carrier.
Adult Batten disease is usually inherited as an autosomal recessive disease (Kufs), but it can be inherited as an autosomal dominant disease (Parry’s).
What causes Batten disease?
Symptoms begin when fatty substances called lipopigments build up in the cells of the brain and the eye as well as in the skin, muscle, and other tissues. This process causes the death of neurons (specific cells in the brain), retina and central nervous system.
What are the symptoms?
Onset is marked by vision loss, seizures, clumsiness, and personality and behavior changes. After onset, affected children eventually become blind, bedridden and unable to communicate.
How is it diagnosed?
Batten disease is frequently misdiagnosed. Because vision loss is often one of the early symptoms, Batten disease may first be suspected during an eye exam. Eye doctors can detect the loss of cells in the eye, which occurs in the childhood forms of Batten disease. However, because this cell loss also occurs with other eye diseases, an eye exam is not enough to provide a definitive diagnosis.
A doctor who suspects Batten disease may refer the patient to a neurologist, who specializes in the brain and nervous system.
Are treatments available?
Currently, there are no FDA-approved treatments that can stop or reverse the symptoms of Batten disease, with one exception: Brineura®, an enzyme replacement therapy that helps treat CLN2 disease, or late infantile Batten disease.
A gene therapy program for CLN1 disease is anticipated to enter clinical trials in 2019 thanks to Abeona Therapeutics Inc., a clinical-stage biopharmaceutical company. Taylor’s Tale is proud to be part of the team that supported this work, led by Steven Gray, PhD, at the University of North Carolina at Chapel Hill.
Until treatments become widely available, seizures can be reduced or controlled with medications, and other medical problems associated with Batten disease can be treated as they occur. Physical and occupational therapy may help patients as the disease progresses.