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All Diseases > Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
Alternative Names: CLN2
Disease Category: Neuronal Ceroid Lipofuscinoses
Neuronal ceroid lipofuscinosis 2 (CLN2) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Children with CLN2 may experience speech delay, seizures that do not respond to medications, loss of muscle coordination (ataxia), muscle twitches (myoclonus), loss of vision, developmental delay, and intellectual disability. CLN2 is caused by changes (pathogenic variations) in the TPP1 gene and is inherited in an autosomal recessive manner. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.