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Clinical and Electrophysiological Study in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

Published online by Cambridge University Press:  02 December 2014

Nicolas Dupré ,
Jean-Pierre Bouchard ,
Louise Cossette ,
Denis Brunet ,
Michel Vanasse ,
Benard Lemieux ,
Gilles Mathon  and
Jack Puymirat
Nicolas Dupré
Affiliation:
From the Laboratoire de Recherche en Génétique Humaine, CHU Laval, Québec, Canada
Jean-Pierre Bouchard
Affiliation:
Département des Sciences Neurologiques, Hôpital Enfant- Jésus, Québec, Canada
Louise Cossette
Affiliation:
From the Laboratoire de Recherche en Génétique Humaine, CHU Laval, Québec, Canada
Denis Brunet
Affiliation:
Département des Sciences Neurologiques, Hôpital Enfant- Jésus, Québec, Canada
Michel Vanasse
Affiliation:
Service de Pédiatrie, Hôpital Marie-Enfant, Montréal, Canada
Benard Lemieux
Affiliation:
Service de Neurologie Pédiatrique, CHU Sherbrooke, Canada
Gilles Mathon
Affiliation:
Service de Rhumatologie, CHU Laval, Québec, Canada
Jack Puymirat
Affiliation:
From the Laboratoire de Recherche en Génétique Humaine, CHU Laval, Québec, Canada
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Abstract

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Background:

The aim of the present study was to examine the frequency and the phenotypic manifestations in a French-Canadian population with a chromosome 17p11.2 duplication (Charcot-Marie-Tooth type 1A, CMT-1A).

Methods:

Molecular analysis were performed by Southern blot using pVAW409R3a probe. Clinical evaluation was carried out according to the scale defined by the European HMSN Consortium.

Results:

The frequency of duplication was found to be similar in the adult (70.8%) and pediatric (72.7%) populations. Onset of symptoms occurred before 20 years of age in 85.7% of adult cases and before the age of 5 in 80% of the pediatric cases. The classical CMT syndrome was observed in 77% of the cases and the syndrome was associated with additional features in 15% of cases in the adult population. All the children presented with classical CMT syndrome with no additional features. There was a significant correlation between the disability score and the duration of the disease but no correlation was found between median nerve conduction velocity and the functional handicap, the age at onset or the duration of the disease. In one family, there was a very conspicuous anticipation over five observed generations.

Conclusion:

This study reveals that the age at onset, the clinical and electrophysiological variability as well as the functional disability variations in a French-Canadian population did not differ from those reported in other populations.

Résumé

RÉSUMÉIntroduction:

Le but de cette étude était d’examiner la fréquence et les manifestations phénotypiques de la mal- adie de Charcot-Marie-Tooth de type 1A (CMT-1A) associée à une duplication en 17p11.2 dans la population canadienne française.

Méthodes:

Une analyse moléculaire a été faite par buvardage de Southern au moyen de la sonde pVAW409R3a. Une évaluation clinique a été faite selon l’échelle définie par le Consortium Européen sur la neuropathie sensitivomotrice héréditaire.

Résultats:

La fréquence de la duplication était la même chez les adultes (70.8%) et chez les enfants (72.7%). Le début des symptômes était survenu avant l’âge de 20 ans chez 85.7% des adultes et avant l’âge de 5 ans chez 80% des enfants. Le syndrome classique du CMT a été observé dans 77% des cas et ce syndrome était associé à des manifestations additionnelles chez 15% des cas adultes. Tous les enfants présentaient le syndrome CMT classique sans manifestations additionnelles. Il existait une corrélation significative entre le score à l’échelle d’invalidité et la durée de la maladie, mais aucune corrélation entre la vitesse de conduction dans le nerf médian et l’in- validité fonctionnelle, l’âge de début ou la durée de la maladie. Dans une famille, nous avons observé une anticipation évidente d’une génération à l’autre sur cinq générations.

Conclusion:

Cette étude révèle que l’âge de début, la variabilité clinique et électrophysiologique ainsi que les variations de l’in- validité fonctionnelle sont les mêmes dans la population canadienne française que ce qui a été rapporté dans d’autres populations.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 26 , Issue 3 , November 1999 , pp. 196 - 200
Copyright
Copyright © The Canadian Journal of Neurological 1999

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