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The Neuropathy of Charlevoix-Saguenay Ataxia: An Electrophysiological and Pathological Study

Published online by Cambridge University Press:  18 September 2015

J.M. Peyronnard ,
L. Charron  and
A. Barbeau
J.M. Peyronnard*
Affiliation:
Centre de Recherche en Sciences Neurologiques, Hôtel-Dieu Hospital and the Clinical Research Institute, Université de Montreal
L. Charron
Affiliation:
Centre de Recherche en Sciences Neurologiques, Hôtel-Dieu Hospital and the Clinical Research Institute, Université de Montreal
A. Barbeau
Affiliation:
Centre de Recherche en Sciences Neurologiques, Hôtel-Dieu Hospital and the Clinical Research Institute, Université de Montreal
*
Reprint requests Cor this paper only to: Dr. J. M. Peyronnard, Centre de Recherche en Sciences Neurologiques, Département de Physiologie, Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada H3C 3T8.
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Summary

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Two female patients aged 30 and 40 years with the Charlevoix-Saguenay ataxia were studied. Both had absent sensory action potentials in upper and lower extremities but, unlike typical cases of Friedreich's ataxia, they displayed a marked slowing of motor conduction velocities. Sural nerve biopsies taken from calf and ankle revealed a severe loss of large my elina ted axons contrasting with a normal myelinated fiber density. Evidence for active axonal degeneration was scarce, with no indication of axonal regeneration.

Teased myelinated fibers revealed an increased variability of internodal length but no evidence for myelin breakdown. These findings support, as a primary defect, a developmental abnormality of peripheral nerve, namely a lack of maturation of large myelinated axons and possibly a faulty myelination of nerve fibers. We think it is unlikely to represent a progressive axonal atrophie or dystrophic process, as suggested in Friedreich's ataxia.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 6 , Issue 2 , May 1979 , pp. 199 - 203
Copyright
Copyright © Canadian Neurological Sciences Federation 1979

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