Batten Disease

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.

What are the forms of Batten disease?

There are four main types of Batten disease. The symptoms of each are similar, but the age of onset and rate of progression vary.

  • Infantile NCL begins before age 2 and progresses quickly; most children live into their mid-childhood years.
  • Late infantile NCL begins between 2 to 4 years of age; the normal lifespan is 8 to 12 years.
  • Juvenile NCL begins between ages 5 and 8; the normal lifespan is teens to early 20s.
  • Adult NCL usually begins before age 40; the lifespan varies.

There are six additional known forms of 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. It affects people worldwide. Because Batten disease is genetic, 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 is no FDA-approved treatment that can stop or reverse the symptoms of any form of Batten disease. However, researchers are making great progress, and clinical trials are underway or completed for several forms of the disease.

A gene therapy program for Taylor’s form of the disease is anticipated to enter clinical trials in 2017 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 readily 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.