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Molecular Mechanism of Tay–Sachs Disease

Nature volume 236, pages 32–33 (1972)Cite this article

Abstract

TAY–SACHS disease is an inherited disorder of the central nervous system which becomes clinically evident in the fourth to sixth month of life, is characterized by progressive neurological impairment, and leads to death usually before the age of 4. The development of pathological changes in the brain is associated with the accumulation of excess GM2 * ganglioside1. The gangliosides are a class of sialic acid-containing glycosphingolipids normally found at highest concentration in the ganglion-cell-rich fraction of the brain. GM2 is a monosialo form present in only minute quantities in normal brain.

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Author notes

  1. R. LESTER: During the period of this work Dr Lester was on sabbatical leave from the Department of Medicine, Boston University School of Medicine, Boston 02118, Massachusetts. Reprint requests should be addressed to him.

Authors and Affiliations

  1. ARC Institute of Animal Physiology, Babraham, Cambridge

    R. LESTER, M. W. HILL & A. D. BANGHAM

Authors
  1. R. LESTER
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  2. M. W. HILL
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  3. A. D. BANGHAM
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LESTER, R., HILL, M. & BANGHAM, A. Molecular Mechanism of Tay–Sachs Disease. Nature 236, 32–33 (1972). https://doi.org/10.1038/236032a0

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