ceroid lipofuscinosis, neuronal, type 2

ceroid lipofuscinosis, neuronal, type 2

A form of neuronal ceroid lipofuscinosis (OMIM:204500), a group of progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material, and clinically characterised by seizures, dementia, visual loss and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.

Molecular pathology
Defects of TPPI, which encodes a member of the sedolisin family of serine proteases, cause neuronal ceroid lipofuscinosis type 2.