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Neuropediatrics 1984; 15: 107-109
DOI: 10.1055/s-2008-1052390
© Georg Thieme Verlag KG Stuttgart · New York

Synopsis: Gangliosidoses

M. E. Schwab1 , F.  Vassella2
  • 1Department of Neurochemistry, Max-Planck-lnstitute for Psychiatry, D-8033 Martinsried, Federal Republic of Germany
  • 2Department of Pediatrics, University of Berne, CH-3010 Berne, Switzerland
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Gangliosidoses are very rare neurological diseases based on specific enzyme defects. They constitute models for the disruption of specific metabolic pathways and cellular functions with the ultimate consequence of manifest clinical symptoms. The investigation of the various steps involved in the generation of a given syndrome can therefore lead to a more profound understanding of the cell biology of the nervous system. In the present synopsis we try to briefly summarize some aspects of the present knowledge of pathophysiological mechanisms in GM1- and GM2-gangliosidoses.

Key words

Gangliosidoses - RNA - Enzyme synthesis