Neuronal ceroid lipofuscinoses: a review

Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegene rative diseases in childhood but rarely present in adulthood. The main symp toms are psychomotor deterioration, visual failure, epilepsy and motor dist urbances. The NCLs are morphologically characterized by the accumulation of lipopigments within numerous cell types and loss of neurons. Pathogenesis is unknown. The current clinical classification recognizes six classic type s of NCL and several atypical forms. Electrophysiological and neuroradiolog ical findings may be of diagnostic significance, but disease recognition re sts on the demonstration of a typical ultrastructural pattern. Genetic stud ies have demonstrated that several different genetic loci are involved in t he pathogenesis of NCL, but the molecular mechanisms underlying neuronal de ath and lipopigment accumulation are not understood.