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Hereditary Ataxia, Spastic Paraparesis and Neuropathy in the French-Canadian Population

Published online by Cambridge University Press:  02 December 2014

Nicolas Dupré ,
Jean-Pierre Bouchard ,
Bernard Brais  and
Guy A. Rouleau
Nicolas Dupré*
Affiliation:
Department of Neurological Sciences, CHAUQ-Enfant-Jésus, Quebec City, QC
Jean-Pierre Bouchard
Affiliation:
Department of Neurological Sciences, CHAUQ-Enfant-Jésus, Quebec City, QC
Bernard Brais
Affiliation:
Center for the Study of Brain Diseases, CHUM Research Center, Notre Dame Hospital, Montreal, QC, Canada
Guy A. Rouleau
Affiliation:
Center for the Study of Brain Diseases, CHUM Research Center, Notre Dame Hospital, Montreal, QC, Canada
*
Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ-Enfant-Jésus, 1401, 18th Street, Quebec City, Quebec, G1J 1Z4, Canada.
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Abstract:

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Historical events have shaped the various regional gene pools of the French-Canadian (FC) population, leading to increased prevalence of some rare diseases. The first studies of these founder effects were performed in large part by astute clinicians such as André Barbeau. In collaboration with others, he contributed greatly to the delineation of phenotypic subtypes of these conditions. As such, the following neurogenetic disorders were first identified in patients of FC origin: AOA2, ARSACS, HSAN2, RAB, and HMSN/ACC. We have summarized our current knowledge of the main hereditary ataxias, spastic parapareses and neuropathies that are particular to the FC population. The initial genetic characterization of the more common and homogeneous of these diseases has been largely completed. We predict that the regional populations of Canada will allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies, and contribute to the unravelling of the genetic basis of these entities.

Résumé:

RÉSUMÉ:

Des événements historiques ont façonné les différents pools géniques de la population canadienne-française (CF) entraînant une augmentation de la prévalence de certaines maladies rares. Les premières études de ces effets fondateurs ont été effectuées surtout grâce à des cliniciens perspicaces tel André Barbeau. Avec des collaborateurs, il a contribué de façon importante à la description de sous-types phénotypiques de ces maladies. Parmi ces maladies neurogénétiques, citons l’AOA2, l’ARSACS, l’HSAN2, le RAB et l’HMSN/ACC qui ont été décrites pour la première fois chez des patients canadiens-français. Nous résumons les connaissances actuelles sur les principales ataxies héréditaires, les paraparésies spastiques et les neuropathies qui sont particulières à la population canadiennefrançaise. La caractérisation génétique des maladies qui sont plus fréquentes et plus homogènes est en grande partie complétée. Nous prévoyons que les populations régionales du Canada permettront d’identifier de nouvelles forms rares d’ataxies héréditaires, de paraparésies spastiques et de neuropathies et contribueront à élucider le fondement génétique de ces maladies.

Type
Review Article
Information
Canadian Journal of Neurological Sciences , Volume 33 , Issue 2 , May 2006 , pp. 149 - 157
Copyright
Copyright © The Canadian Journal of Neurological 2006

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