ParkinsonCanadaV1, Main, Curation, bibRecord, 002B13

Neurofilament M gene in a french-canadian population with Parkinson's disease

Identifieur interne : 002B13 ( Main/Curation ); précédent : 002B12; suivant : 002B14

Neurofilament M gene in a french-canadian population with Parkinson's disease

Auteurs : F. Han [Canada] ; D. E. Bulman [Canada] ; M. Panisset [Canada] ; D. A. Grimes [Canada]

Source :

Canadian journal of neurological sciences [ 0317-1671 ] ; 2005.

RBID : Pascal:05-0144308

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Neurofilament, Canadien français, Parkinson maladie.
Wicri :
- geographic : Canada.

English descriptors

KwdEn :
- Aged, Canada (epidemiology), DNA Mutational Analysis, Female, French canadian, Humans, Male, Middle Aged, Mutation, Nervous system diseases, Neurofilament, Neurofilament Proteins (genetics), Parkinson Disease (genetics), Parkinson disease, Polymerase Chain Reaction.
MESH :
- chemical , genetics : Neurofilament Proteins.
- geographic , epidemiology : Canada.
- genetics : Parkinson Disease.
- Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Polymerase Chain Reaction.

Abstract

Le gène du neurofilament M chez des patients canadiens-français atteints de la maladie de Parkinson. 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.

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Le document en format XML

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<front><div type="abstract" xml:lang="fr">Le gène du neurofilament M chez des patients canadiens-français atteints de la maladie de Parkinson. 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.</div>
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<front><div type="abstract" xml:lang="fr">Le gène du neurofilament M chez des patients canadiens-français atteints de la maladie de Parkinson. 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.</div>
</front>
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<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Neurofilament M gene in a French-Canadian population with Parkinson's disease.</title>
<author><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name>
<affiliation wicri:level="1"><nlm:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa</wicri:regionArea>
<wicri:noRegion>Ottawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name>
</author>
<author><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name>
</author>
<author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name>
</author>
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<date when="2005">2005</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Neurofilament M gene in a French-Canadian population with Parkinson's disease.</title>
<author><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name>
<affiliation wicri:level="1"><nlm:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa</wicri:regionArea>
<wicri:noRegion>Ottawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bulman, D E" sort="Bulman, D E" uniqKey="Bulman D" first="D E" last="Bulman">D E Bulman</name>
</author>
<author><name sortKey="Panisset, M" sort="Panisset, M" uniqKey="Panisset M" first="M" last="Panisset">M. Panisset</name>
</author>
<author><name sortKey="Grimes, D A" sort="Grimes, D A" uniqKey="Grimes D" first="D A" last="Grimes">D A Grimes</name>
</author>
</analytic>
<series><title level="j">The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</title>
<idno type="ISSN">0317-1671</idno>
<imprint><date when="2005" type="published">2005</date>
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<term>Canada (epidemiology)</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Neurofilament Proteins (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymerase Chain Reaction</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Neurofilament Proteins</term>
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<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Polymerase Chain Reaction</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Neurofilament M gene in a french-canadian population with Parkinson's disease

Neurofilament M gene in a french-canadian population with Parkinson's disease

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