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The Quebec Cooperative Study of Friedreich's Ataxia: 1974-1984 — 10 Years of Research

Published online by Cambridge University Press:  18 September 2015

A. Barbeau
A. Barbeau*
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada, H2W 1R7
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Abstract

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In this paper the author reviews the progress accomplished in the understanding of Friedreich's disease since the start of the “Quebec Cooperative Study of Friedreich's Ataxia” in 1974. The last ten years have indeed seen important strides taken in the definition and nosography of the hereditary ataxias and the characterization of a number of new entities. Biochemically, the principal leads uncovered during the initial prospective survey, have been pursued to great detail. Unfortunately no clear-cut constant and severe enzyme block in the principal metabolic pathways has yet been identified, despite intensive studies. It is postulated that the defect may instead be a regulatory one and involve a decreased availability or utilization of one of the vitamin cofactors that are known experimentally, or clinically, to produce central nervous system damage with ataxia: Vitamin E, Biotin or Pantothenic Acid. Studies in that direction and in molecular genetics to localize the Friedreich's disease gene are being untertaken for the next phase of the Cooperative Study.

Type
C—Biochemistry
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue S4 , November 1984 , pp. 646 - 660
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

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