Children's Hospital Colorado

Neuronal Ceroid Lipofuscinosis (NCL or Batten Disease)

What is neuronal ceroid lipofuscinosis (NCL)?

NCLs are a group of genetic conditions that result in progressive neurological symptoms that include ataxia (lack of coordination), seizures, loss of cognitive skills and vision. NCL is also known as Batten disease.

What causes NCL (Batten disease)?

NCL is classified as a lysosomal storage disorder. The lysosomes are small compartments within cells that modify and remove proteins and fats. NCL is characterized by abnormal accumulation of proteins and fats in the lysosomes.

For reasons that have yet to be understood, the lysosomal collections are particularly damaging to the cells of the brain and the retina (a layer at the back of the eye). There are 14 different genes that affect the function of the lysosome. Mutations of any of these genes may cause NCL.

Who gets NCL?

A person can develop NCL any time from infancy to adulthood, though early childhood is the most common time for the first symptoms to occur.

NCL mutations are typically inherited in a recessive fashion, meaning that each parent is a carrier for a mutation in the same NCL gene. Carriers do not have any symptoms of NCL. With a recessively inherited condition, there is a 25% chance of a child inheriting a mutation from both parents and hence having NCL. Most patients do not have any other affected family members at the time of diagnosis.

Contact the Neuroscience Institute

Cartoon image of a patient and doctor having a telehealth call.

Keeping you safe, wherever you are

We're here when you need us with the same safe, high-quality care we've always offered, even during the pandemic. Now, in many cases, you can get that care without even leaving home because we offer virtual visits across every one of our specialties.

See if telehealth is right for your child