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Developmental Neuropathology pp 425–447Cite as

Sphingolipidoses

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Abstract

In the early decades of this century the sphingolipidoses were classified into three entities: (1) Familial amaurotic idiocy was thought to be a lipid storage disease affecting the central nervous system only, while (2) Gaucher and (3) Niemann-Pick diseases were thought to be generalized lipidoses with predominant visceral involvement. Amaurotic idiocy was subclassified according to the age of onset, as proposed by Vogt (1909): 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 were assumed to be variants of one and the same disease. There was also controversy on whether amaurotic idiocy was an entity or merely a variant of Niemann-Pick disease, with lipid storage restricted to the nervous system.

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  1. Zentrum Neurologische Medizin, Abteilung Neuropathologie, Georg-August-Universität Göttingen, Robert-Koch-Straße 40, 3400, Göttingen, Germany

    Reinhard L. Friede

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Friede, R.L. (1989). Sphingolipidoses. In: Developmental Neuropathology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-73697-1_34

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  • DOI: https://doi.org/10.1007/978-3-642-73697-1_34

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