Sphingolipidoses

Abstract

The forms of sphingolipidoses described in the present chapter had in the past been classified into three disease entities: 1. Familial amaurotic idiocy was considered a lipid storage disease affecting the central nervous system only. 2. Gaucher and 3. Niemann-Pick diseases were thought to be generalized lipidoses with predominant visceral involvement. Amaurotic idiocy was subclassified according to its age of onset, as proposed by Vogt (1909) and amplified by later investigators: There was a congenital form (Norman-Wood), an infantile form (Tay-Sachs), a late infantile form (Bielschowsky Jansky), a juvenile form (for which the subtypes Spielmeyer-Vogt, Batten-Mayou, and Sjögren had been proposed), and an adult form (Kufs). All these types were assumed to be manifestations of one and the same disease. Prior to the chemical identification of the lipids stored in these diseases (and even for some time thereafter), there was considerable controversy on whether amaurotic idiocy was indeed an entity or merely a variant of Niemann-Pick disease in which lipid storage is restricted to the nervous system.KeywordsGauche DiseaseJuvenile FormInfantile FormGauche CellLipid Storage DiseaseThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.