Hostname: page-component-848d4c4894-jbqgn Total loading time: 0 Render date: 2024-07-02T22:54:18.859Z Has data issue: false hasContentIssue false
  • English
  • Français

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
Rights & Permissions [Opens in a new window]

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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

Barbeau, A., Lesiege, M., Breton, G., Coallier, R. and Bouchard, J. P. (1976). Friedreich's ataxia: preliminary results of some genealogical research. Can. J. Neurol. Sci. 4: 303–306.CrossRefGoogle Scholar
Bell, J. M. and Carmichael, E. A. (1939). On hereditary ataxia and spastic paraplegia.In: Treasury of Human Inheritance, Cambridge Press, London, Vol. 4, pp. 141–284.Google Scholar
Bouchard, J. P., Barbeau, A., Bouchard, R. W. (1978). Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Can. J. Neurol. Sci. 5: 61–69.CrossRefGoogle Scholar
Boyer, S. H., Chisholm, A. W. and McKusick, V. A. (1962). Cardiac aspects of Friedreich's ataxia. Circulation 25: 493–505.Google ScholarPubMed
Davies, D. L. (1949). The intelligence of patients with Friedreich's ataxia. J. Neurol. Neurosurg. Psychiat. 12: 34–38.CrossRefGoogle ScholarPubMed
Gattiker, H. F., Davignon, A., Bozio, A., Battle-Diaz, J., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976). Echocardiographic findings in Friedreich's ataxia. Can. J. Neurol. Sci. 4: 329–332.CrossRefGoogle Scholar
Geoffroy, G., Barbeau, A., Breton, G., Lemieux, B., Aube, M., Leger, C. and Bouchard, J. P. (1976). Clinical description and Roentgenologic evaluation of patients with Friedreich's ataxia. Can. J. Neurol. Sci. 4: 279–286.Google Scholar
Peyronnard, J. M., Bouchard, J. P., Lapointe, L., Lamontagne, A., Lemieux, B. and Barbeau, A. (1976). Nerve conduction studies and electromyo-graphy in Friedreich's ataxia. Can. J. Neurol. Sci. 4: 313–317.CrossRefGoogle Scholar
Refsum, S. and Skre, H. (1978). Nosology, genetics and epidemiology of hereditary ataxias, with particular reference to the epidemiology of these disorders in Western Norway.In: Advances in Neurology, Vol. 19, Schoenberg, B.S., editor. Raven Press, New York, pp. 497–508.Google Scholar
Tyrer, J. H. (1975). Friedreich's ataxia.In: Handbook of clinical neurology. Vinken, P. J. and Bruyn, G. W., editors. North Holland Pubi. Co., Amsterdam. Vol. 21, pp. 319–364.Google Scholar