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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Published online by Cambridge University Press:  18 September 2015

J. P. Bouchard ,
A. Barbeau ,
R. Bouchard  and
R. W. Bouchard
J. P. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
A. Barbeau*
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
R. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
R. W. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec; le Centre Hospitalier de l'Université; Laval; l'Institut de Psychométrie et de Méthodes Quantitatives de Québec; and The Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
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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.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 5 , Issue 1 , February 1978 , pp. 61 - 69
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

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