Biochemical Studies on GM1-Gangliosidosis and Ceramide Trihexosidosis

  • L. S. Wolfe
  • J. T. R. Clarke
  • R. G. Senior
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


Two clinical forms of GMl-gangliosidosis are now recognized (9,15,25). In Type I (generalized gangliosidosis) the disease is apparent at birth or soon after and mental and motor retardation progress rapidly to cause death before two years of age. This is associated with an abnormal facial appearance, prominent hepatosplenomegaly and marked skeletal abnormalities. In Type II (late infantile or juvenile GMl-gangliosidosis), the disease onsets after 6 months and although the psychomotor deterioration is similar to Type I it progresses more slowly, and death can occur anytime between 3 and 10 years. There is little characteristic about the child’s appearance, the liver and spleen are not enlarged unduly and the skeletal abnormalities are minor, although in recent reports they are possibly of diagnostic value. O’Brien has recently reviewed the clinical and biochemical abnormalities in this disease (15). In both types, GMl-ganglioside and its asialo-derivative accumulate in greatly increased amounts in brain and peripheral neurones in intracellular organelles with very similar properties and appearance to the membranous cytoplasmic bodies seen in Tay Sachs disease (19,20). GMl-ganglioside is also present in increased quantities in non-neural tissues (liver, spleen, cultured fibroblasts) in both types but the visceral accumulation is much more marked in the Type I form (3,15,20,25).


Coffee Bean Anomeric Proton Keratan Sulfate Periodate Oxidation Terminal Galactose 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • L. S. Wolfe
    • 1
  • J. T. R. Clarke
    • 1
  • R. G. Senior
    • 1
  1. 1.The Donner Laboratory of Experimental Neurochemistry, Montreal Neurological InstituteMcGill UniversityMontrealCanada

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