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Possible Association of Degenerative Motor Neuron Disease (ALS) with Abnormal Ganglioside Metabolism: Abnormal Gangliosides in ALS Spinal Cord and ALS-Like Symptoms in a Unique Partial HexB Deficiency Syndrome

  • G. Dawson
  • L. W. Hancock
  • A. L. Horwitz
  • R. Wollman
  • N. Cashman
  • J. Antel
Part of the FIDIA Research Series book series (FIDIA, volume 6)

Abstract

Two major ganglioside storage diseases are known in man, GM2 (II3NeuAcGgOse3Cer)-Gangliosidosis (Tay-Sachs disease and its β-hexosaminidasedeficient variants) and GM1-gangliosidosis (β-Galactosidase deficiency) (O’Brien, 1983). Both diseases encompass many genotypic variants and many clinical phenotypes, but the major pathological characteristic is the lysosomal accumulation of gangliosides in neurons (O’Brien, 1983). Ultrastructural studies of neurons in humans and animals with GM2- and GM1-gangliosidosis have revealed aberrant sprouting of neurites from axon hillocks (meganeurites) (Purpura and Suzuki, 1976) prior to neuronal death and this has led to much of the current interest in gangliosides as neuritogenic agents. Much of this Symposium will be devoted to the stimulatory, neurite regenerative capacity of gangliosides, so it is important to remember the neuropathological origins of the “ganglioside effect”.

Keywords

Amyotrophic Lateral Sclerosis Spinal Muscular Atrophy Motor Neuron Disease Sandhoff Disease Rectal Suction Biopsy 
These 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.

Abbreviations

ALS

amyotrophic lateral sclerosis

SDS

sodium dodecylsulphate

EM

electron microscopy

4MU (4MU-)

4 methyl umbelliferone (4-methylumbelliferyl-)

PDGD

platelet derived growth factor

EGT

epithelial cells growth factor

PAGE

polyacrylamide gel electrophoresis

TLC

thin layer chromatography.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1986

Authors and Affiliations

  • G. Dawson
    • 1
  • L. W. Hancock
    • 1
  • A. L. Horwitz
    • 1
  • R. Wollman
    • 1
  • N. Cashman
    • 1
  • J. Antel
    • 1
  1. 1.Joseph P. Kennedy Jr. Mental Retardation Research Center, Departments of Pediatrtics, Neurology and PathologyUniversity of ChicagoChicagoUSA

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