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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.
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