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Neurofilament M gene in a French-Canadian Population with Parkinson’s Disease

Published online by Cambridge University Press:  02 December 2014

F. Han ,
D.E. Bulman ,
M. Panisset  and
D.A. Grimes
F. Han
Affiliation:
Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
D.E. Bulman
Affiliation:
Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, and the Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
M. Panisset
Affiliation:
Department of Neurology, McGill Centre for Studies in Aging, McGill University, Montreal, Canada
D.A. Grimes
Affiliation:
Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, and the Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
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Abstract

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Background:

Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson’s disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson’s disease and of similar ethnic background have been screened for this mutation.

Methods:

We screened 102 French-Canadian patients with definite PD and 45 French-Canadian controls for this substitution in the NF-M gene using a PCR-restriction enzyme digestion method.

Results:

None of the patients or controls carried this mutation.

Conclusion:

Our results would indicate that this mutation is not common even in a PD population of similar ethnic background and suggest this change represents a rare variant. However, these results do not exclude the possibility that other mutations in this gene could be present.

Résumé:

RÉSUMÉ:Introduction:

Une mutation impliquant une substitution d’une seule paire de bases (G1747A) dans le gène du neurofilament M (NF–M) a été rapportée récemment chez un patient Canadien–français atteint de la maladie de Parkinson (MP). Trois membres de sa fratrie qui ne sont pas atteints de la maladie sont hétérozygotes pour la mutation NF–M Gly336Ser, mais jusqu’à maintenant on n’a trouvé une telle mutation chez aucun autre individu atteint de la MP.

Méthodes:

Nous avons recherché cette substitution dans le gène NF–M au moyen de la méthode par technique PCR et digestion enzymatique par une enzyme de restriction chez 102 patients canadiens–français atteints de MP certaine et 45 témoins canadiens–français.

Résultats:

Aucun des patients ou des témoins n’était porteur de cette mutation.

Conclusion:

Selon nos résultats, cette mutation n’est pas fréquente, même chez des patients atteints de la MP et ayant la même origine ethnique. Il s’agit donc d’une variante rare. Cependant la présence d’autres mutations dans ce gène n’est pas exclue.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 32 , Issue 1 , February 2005 , pp. 68 - 70
Copyright
Copyright © The Canadian Journal of Neurological 2014

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