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

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A new F-box protein 7 gene mutation causing typical Parkinson's disease.

Identifieur interne : 000332 ( PubMed/Curation ); précédent : 000331; suivant : 000333

A new F-box protein 7 gene mutation causing typical Parkinson's disease.

Auteurs : Ebba Lohmann [Turquie] ; Anne-Sophie Coquel [France] ; Aurélie Honoré [France] ; Hakan Gurvit [Turquie] ; Hasmet Hanagasi [Turquie] ; Murat Emre [Turquie] ; Anne L. Leutenegger [France] ; Valérie Drouet [France] ; Mourad Sahbatou [France] ; Gamze Guven [Turquie] ; Nihan Erginel-Unaltuna [Turquie] ; Jean-Francois Deleuze [France] ; Suzanne Lesage [France] ; Alexis Brice [France]

Source :

RBID : pubmed:26010069

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English descriptors

Abstract

Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.

DOI: 10.1002/mds.26266
PubMed: 26010069

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Le document en format XML

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<term>Aged, 80 and over</term>
<term>Consanguinity</term>
<term>F-Box Proteins (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (physiopathology)</term>
<term>Pedigree</term>
<term>Turkey</term>
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<div type="abstract" xml:lang="en">Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.</div>
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<DateCreated>
<Year>2015</Year>
<Month>07</Month>
<Day>16</Day>
</DateCreated>
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<Year>2016</Year>
<Month>05</Month>
<Day>06</Day>
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<Year>2015</Year>
<Month>07</Month>
<Day>16</Day>
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<Volume>30</Volume>
<Issue>8</Issue>
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<Year>2015</Year>
<Month>Jul</Month>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>A new F-box protein 7 gene mutation causing typical Parkinson's disease.</ArticleTitle>
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<MedlinePgn>1130-3</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26266</ELocationID>
<Abstract>
<AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Recessive mutations in the F-box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian-pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa-responsive PD.</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety.</AbstractText>
<CopyrightInformation>© 2015 International Parkinson and Movement Disorder Society.</CopyrightInformation>
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<AffiliationInfo>
<Affiliation>Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.</Affiliation>
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<ForeName>Anne-Sophie</ForeName>
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