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Friedreich's Ataxia 1976 — An Overview

Published online by Cambridge University Press:  18 September 2015

A. Barbeau
A. Barbeau*
Affiliation:
Clinical Research Institute of Montreal and the Hopital Hotel-Dieu, Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal H2W 1R7 Quebec, Canada
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Summary:

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The prospective investigation of 50 cases of possible Friedreich's ataxia has permitted the clinical and biochemical delineation of the typical disease and an hypothesis on its pathogenesis. A tentative definition of the disorder could read: “Friedreich's ataxia is a progressive degenerative disease always inherited in an autosomal recessive fashion and characterized by a cardiomyopathy and a ganglioneuropathy with dying back phenomenon. It is probably secondary to a defect in the membrane transport of taurine and β -alanine and/or a defect in the regulation of pyruvate oxidation.” The existence of two pathogenetically distinct distinct entities with the same phenotype is a strong possibility.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 3 , Issue 4 , November 1976 , pp. 389 - 397
Copyright
Copyright © Canadian Neurological Sciences Federation 1976

References

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