Children's Hospital Colorado

Neuronal Ceroid Lipofuscinosis (NCL or Batten Disease)

We specialize in the big things, the small things and everything in between.

Best Children's Hospital by U.S. News & World Report Neurology 2021-2 Badge

Get Care

Would you like to learn more about us?
checked box icon Neurology
Are you ready to schedule an appointment?
calendar icon Schedule an appointment
Do you have questions about your child’s condition?

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.

Next steps

  • Would you like to learn more about us?

    Learn more about the Neurology Program
  • Do you have questions about your child’s condition?

  • Are you ready to schedule an appointment?

    Schedule an appointment

Compassionate care, wherever you are

We’re here when you need us. Telehealth appointments are available across every specialty, so you can get the high-quality care we’ve always offered from the comfort, privacy and convenience of home.

See if telehealth is right for you