Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

Abstract

Biochemical, histochemical and ultrastructural investigations during the 1960's lead to the subdivision of amaurotic familial idiocy (AFI) into two distinct groups of nosological entities: the gangliosidoses and the neuronal ceroid-lipofuscinoses 28 .In the gangliosidoses, the stored lipid is a ganglioside and its accumulation depends on well characterized enzymatic defects in the catabolism of