Biochemical aspects of neuronal ceroid lipofuscinoses

The neuronal ceroid lipofuscinoses (NCLs) collectively constitute the most common group of progressive brain diseases in children. The childhood forms of NCL are recessively inherited monogenic diseases, resulting in progress ive dementia and motor problems, epilepsy, blindness and, finally, early de ath. Pathologically, the NCLs are characterized by accumulation of autofluo rescent storage material in the lysosomes of neurons and other cells. The d isease is selectively manifested in the central nervous system, so that the re is a progressive loss of neurons. This leads to a dramatic cerebral atro phy typical of the early onset forms of NCL. The present review summarizes the knowledge of the biochemistry of NCLs, and discusses the possible patho genetic mechanisms involved in the neurodegeneration in NCLs.