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Nuclear Inclusions in Oculopharyngeal Muscular Dystrophy in Quebec

Published online by Cambridge University Press:  18 September 2015

Jean-Pierre Bouchard ,
François Gagné ,
Fernando M. S. Tomé  and
Denis Brunet
Jean-Pierre Bouchard*
Affiliation:
De l'Hôpital de l'Enfant-Jésus, Université Laval, Québec
François Gagné
Affiliation:
De l'Hôpital de l'Enfant-Jésus, Université Laval, Québec
Fernando M. S. Tomé
Affiliation:
INSERM, Unité 153, Paris
Denis Brunet
Affiliation:
De l'Hôpital de l'Enfant-Jésus, Université Laval, Québec
*
Département des Sciences Neurologiques, Hôpital de l'Enfant-Jésus, 1401 18è rue, Québec, P.Q., Canada G1J 1Z4
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Abstract:

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Seven French-Canadian cases of clearcut oculopharyngeal muscular dystrophy (OPMD) had their muscle studied for the presence of intranuclear inclusions, and they were all positive. Inclusions of both “mature” and “immature” types were seen in our material. The presence of such intranuclear structures should be added to the criteria of the clinical picture and the family history for diagnosis of a case and inclusion of a family in further genetic studies. Reverse genetic studies of large families and biochemical studies of these intranuclear structures may help to understand the pathogenesis of this common disease in Quebec.

Résumé:

RÉSUMÉ:

Nous avons étudié sept cas canadiens-français de dystrophie oculopharyngée classique et nous avons retrouvé dans chaque cas des inclusions intranucléaires dans les muscles striés. Ces inclusions étaient le plus souvent de forme typique, mais nous avons parfois noté dans les mêmes muscles des inclusions de forme “immature”. Il nous paraît maintenant nécessaire d'ajouter la présence de ces structures intranucléaires aux critères habituels du tableau clinique et de l'histoire familiale pour confirmer le diagnostic d'un cas isolé ou l'inclusion d'une famille dans une étude génétique. Les études de génétique inverse sur de grandes familles affectées et l'analyse biochimique de ces inclusions intranucléaires devrait nous aider à mieux comprendre la pathogénèse de cette maladie fréquente au Québec.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 16 , Issue 4 , November 1989 , pp. 446 - 450
Copyright
Copyright © Canadian Neurological Sciences Federation 1989

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