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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, Volume 5, No. 1, Year 1978
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Description
A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum β-lipoproteins and HDL apoproteins. These features are similar to those found in trypical Friedreich's ataxia. © 1978, Canadian Neurological Sciences Federation. All rights reserved.
Authors & Co-Authors
Bouchard, Jean Pierre
Canada, Quebec
Chu de Québec-université Laval
Canada, Montreal
Institut de Recherches Cliniques de Montréal
Barbeau, Andrã©
Canada, Quebec
Chu de Québec-université Laval
Canada, Montreal
Institut de Recherches Cliniques de Montréal
Statistics
Citations: 222
Authors: 2
Affiliations: 2
Identifiers
Doi:
10.1017/S0317167100024793
ISSN:
03171671
Research Areas
Health System And Policy