Juvenile Neuronal Ceroid Lipofuscinoses (JNCL)

Juvenile neuronal ceroid lipofuscinosis (JNCL) is the most frequent neuronal ceroid lipofuscinosis (NCLs). It is a hereditary metabolic lysosomal neurodegenerative disease characterised by intracellular accumulation of autofluorescent material. Its heredity is autosomal recessive. It provokes a regression of visual, motor and cognitive functions with epilepsy and leads to early death.