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The Gangliosidoses pp 1–29Cite as

Historical Review

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Abstract

The term amaurotic family idiocy (AFI) is a clinical description which refers to a group of hereditary disorders characterized by progressive psychomotor and visual deterioration. The term ganglioside was introduced by Klenk1 in 1939 for neuraminic-acid-containing glycolipids which he found in the brains of subjects with the infantile form of AFI which is now known as Tay-Sachs disease (TSD). The gangliosidoses are due to an inborn error of ganglioside metabolism resulting in an absolute increase in the tissue concentration of gangliosides. The terms Tay-Sachs disease and amaurotic family idiocy have often been used interchangeably. However, only three major classes of AFI are biochemically proven gangliosidoses:

  1. 1.

    GM2-gangliosidosis. This group includes the most common type, Tay-Sachs disease (variant B), as well as Sandhoff’s disease (variant O) and Bernheimer-Seitelberger disease (variant AB).

  2. 2.

    GM1-gangliosidosis. This group includes Norman-Landing disease (type O) and Derry’s disease (type A).

  3. 3.

    GM3-gangliosidosis. This group has so far been reported in only two patients.

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  1. Isaac Albert Research Institute, Kingsbrook Jewish Medical Center, USA

    Bruno W. Volk

  2. Downstate Medical Center, State University of New York, Brooklyn, New York, USA

    Bruno W. Volk

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    Bruno W. Volk  & Larry Schneck  & 

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Volk, B.W. (1975). Historical Review. In: Volk, B.W., Schneck, L. (eds) The Gangliosidoses. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8726-2_1

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