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The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, inherited in an autosomal recessive manner. There are 8 genes (CLN 1-8), which have several identified mutations associated with NCL. The genes most commonly affected in pediatric patients are CLN 1, 2 and 3. Tripeptidyl peptidase (TPP) deficiency, caused by mutations in the CLN2 gene is responsible for 80% of cases of classic late-infantile (cLINCL) and 7% of juvenile onset (JNCL) neuronal ceroid lipofuscinosis.
Seattle Children’s provides healthcare for the special needs of children regardless
of race, sex, creed, ethnicity or disability. Financial assistance for medically
necessary services is based on family income and hospital resources and is provided
to children under age 21 whose primary residence is in Washington, Alaska, Montana
Seattle Children’s Hospital, Research