Purpose: Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of ...
The NCLs (neuronal ceroid lipofuscinosis) are pediatric neurodegenerative disorders. The nine clinical variants are caused by mutations in different genes (CLN1–CLN9). Six of the genes are ...