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A Cluster of Friedreich's Ataxia in Rimouski, Québec

Published online by Cambridge University Press:  18 September 2015

J.P. Bouchard ,
A. Barbeau ,
R. Bouchard ,
M. Paquet  and
R.W. Bouchard
J.P. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie 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 and the Clinical Research Institute of Montreal
R. Bouchard
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie de Québec and the Clinical Research Institute of Montreal
M. Paquet
Affiliation:
l'Hôpital de l'Enfant-Jésus, Quebec City; l'Institut de Cardiologie 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 and the Clinical Research Institute of Montreal
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Summary

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We described a cluster of 8 independent sibships of Friedreich's ataxia in the ShFabien parish of Rimouski and have shown that they are all related within 6 generations. The study of this geographic and genetic isolate permitted the investigation of certain unusual features of the disease such as constant myopia, delayed reaction times to pain, flexor spasms, anda rapid evolution.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 6 , Issue 2 , May 1979 , pp. 205 - 208
Copyright
Copyright © Canadian Neurological Sciences Federation 1979

References

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