La maladie de Parkinson en France (serveur d'exploration)

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Assessment of Nurr1 nucleotide variations in familial Parkinson's disease

Identifieur interne : 000654 ( PascalFrancis/Curation ); précédent : 000653; suivant : 000655

Assessment of Nurr1 nucleotide variations in familial Parkinson's disease

Auteurs : C. Levecque [France] ; A. Destee [France] ; V. Mouroux [France] ; P. Amouyel [France] ; M.-C. Chartier-Harlin [France]

Source :

RBID : Pascal:04-0434137

Descripteurs français

English descriptors

Abstract

Parkinson's disease (PD) is characterised by the death of dopaminergic neurons of the substantia nigra. As Nurr1 seems to regulate the development and maintenance of these neurons, we evaluated its potential role in Parkinson's disease using genetic methods. We genotyped two polymorphisms and screened a case-control sample for the presence/absence of two mutations recently described in exon 1. Our results failed to replicate the association initially observed and none of the mutations were present in our familial Parkinson's disease cases. These observations suggest that this gene is unlikely to play a major effect in French familial Parkinson Disease.
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A11 01  1    @1 LEVECQUE (C.)
A11 02  1    @1 DESTEE (A.)
A11 03  1    @1 MOUROUX (V.)
A11 04  1    @1 AMOUYEL (P.)
A11 05  1    @1 CHARTIER-HARLIN (M.-C.)
A14 01      @1 INSERM 508, Institut Pasteur de Lille, I rue du Professeur Calmette, BP 245 @2 59019 Lille @3 FRA @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut.
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C01 01    ENG  @0 Parkinson's disease (PD) is characterised by the death of dopaminergic neurons of the substantia nigra. As Nurr1 seems to regulate the development and maintenance of these neurons, we evaluated its potential role in Parkinson's disease using genetic methods. We genotyped two polymorphisms and screened a case-control sample for the presence/absence of two mutations recently described in exon 1. Our results failed to replicate the association initially observed and none of the mutations were present in our familial Parkinson's disease cases. These observations suggest that this gene is unlikely to play a major effect in French familial Parkinson Disease.
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C03 01  X  FRE  @0 Maladie familiale @2 NM @5 09
C03 01  X  ENG  @0 Familial disease @2 NM @5 09
C03 01  X  SPA  @0 Enfermedad familiar @2 NM @5 09
C03 02  X  FRE  @0 Parkinson maladie @5 12
C03 02  X  ENG  @0 Parkinson disease @5 12
C03 02  X  SPA  @0 Parkinson enfermedad @5 12
C03 03  X  FRE  @0 Facteur transcription Nurr1 @4 CD @5 96
C03 03  X  ENG  @0 Nurr1 transcription factor @4 CD @5 96
C07 01  X  FRE  @0 Système nerveux pathologie @5 20
C07 01  X  ENG  @0 Nervous system diseases @5 20
C07 01  X  SPA  @0 Sistema nervioso patología @5 20
C07 02  X  FRE  @0 Encéphale pathologie @5 21
C07 02  X  ENG  @0 Cerebral disorder @5 21
C07 02  X  SPA  @0 Encéfalo patología @5 21
C07 03  X  FRE  @0 Extrapyramidal syndrome @5 22
C07 03  X  ENG  @0 Extrapyramidal syndrome @5 22
C07 03  X  SPA  @0 Extrapiramidal síndrome @5 22
C07 04  X  FRE  @0 Maladie dégénérative @5 23
C07 04  X  ENG  @0 Degenerative disease @5 23
C07 04  X  SPA  @0 Enfermedad degenerativa @5 23
C07 05  X  FRE  @0 Système nerveux central pathologie @5 24
C07 05  X  ENG  @0 Central nervous system disease @5 24
C07 05  X  SPA  @0 Sistema nervosio central patología @5 24
N21       @1 243
N44 01      @1 OTO
N82       @1 OTO

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