Batten disease is the most common form of a group of rare disorders known as neuronal ceroid lipofuscinoses (NCLs). Batten disease is an inherited genetic disorder that causes a build-up of lipopigments in the body’s tissue. Batten disease refers to a juvenile form of NCL, but the other forms of NCL can also be referred to as Batten disease. The forms of NCL include:

  • Infantile NCL
  • Late infantile NCL
  • Juvenile NCL
  • Adult NCL

Batten disease is caused by abnormalities in genes that are involved with the production and use of certain body proteins. The disease results in a build-up of fats and proteins called lipopigments in the cells of the brain, eyes, skin, and other tissues.

Researchers have made progress in identifying the defective enzymes and mutated genes that underlie these disorders, but it is not yet known exactly how the gene mutations cause this build-up of lipopigments.