ParkinsonFranceV1, PubMed, Corpus, bibRecord, 000889

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

Identifieur interne : 000889 ( PubMed/Corpus ); précédent : 000888; suivant : 000890

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

Auteurs : M. Anheim ; A. Elbaz ; S. Lesage ; A. Durr ; C. Condroyer ; F. Viallet ; P. Pollak ; B. Bonaïti ; C. Bonaïti-Pellié ; A. Brice

Source :

Neurology [ 1526-632X ] ; 2012.

RBID : pubmed:22282650

English descriptors

KwdEn :
- Adult, Aged, Female, Genetic Predisposition to Disease, Glucosylceramidase (genetics), Humans, Male, Middle Aged, Mutation, Parkinson Disease (genetics), Penetrance, Phenotype.
MESH :
- chemical , genetics : Glucosylceramidase.
- genetics : Parkinson Disease.
- Adult, Aged, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Penetrance, Phenotype.

Abstract

Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD), is unknown. Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers.

DOI: 10.1212/WNL.0b013e318245f476
PubMed: 22282650

Links to Exploration step

pubmed:22282650

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.</title>
<author><name sortKey="Anheim, M" sort="Anheim, M" uniqKey="Anheim M" first="M" last="Anheim">M. Anheim</name>
<affiliation><nlm:affiliation>INSERM, U975, Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Elbaz, A" sort="Elbaz, A" uniqKey="Elbaz A" first="A" last="Elbaz">A. Elbaz</name>
</author>
<author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
</author>
<author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Durr">A. Durr</name>
</author>
<author><name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author><name sortKey="Viallet, F" sort="Viallet, F" uniqKey="Viallet F" first="F" last="Viallet">F. Viallet</name>
</author>
<author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name>
</author>
<author><name sortKey="Bonaiti, B" sort="Bonaiti, B" uniqKey="Bonaiti B" first="B" last="Bonaïti">B. Bonaïti</name>
</author>
<author><name sortKey="Bonaiti Pellie, C" sort="Bonaiti Pellie, C" uniqKey="Bonaiti Pellie C" first="C" last="Bonaïti-Pellié">C. Bonaïti-Pellié</name>
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<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.</title>
<author><name sortKey="Anheim, M" sort="Anheim, M" uniqKey="Anheim M" first="M" last="Anheim">M. Anheim</name>
<affiliation><nlm:affiliation>INSERM, U975, Paris, France.</nlm:affiliation>
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<author><name sortKey="Elbaz, A" sort="Elbaz, A" uniqKey="Elbaz A" first="A" last="Elbaz">A. Elbaz</name>
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<author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
</author>
<author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Durr">A. Durr</name>
</author>
<author><name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author><name sortKey="Viallet, F" sort="Viallet, F" uniqKey="Viallet F" first="F" last="Viallet">F. Viallet</name>
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<author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name>
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<author><name sortKey="Bonaiti, B" sort="Bonaiti, B" uniqKey="Bonaiti B" first="B" last="Bonaïti">B. Bonaïti</name>
</author>
<author><name sortKey="Bonaiti Pellie, C" sort="Bonaiti Pellie, C" uniqKey="Bonaiti Pellie C" first="C" last="Bonaïti-Pellié">C. Bonaïti-Pellié</name>
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<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
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<series><title level="j">Neurology</title>
<idno type="eISSN">1526-632X</idno>
<imprint><date when="2012" type="published">2012</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Glucosylceramidase (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Penetrance</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Penetrance</term>
<term>Phenotype</term>
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<front><div type="abstract" xml:lang="en">Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD), is unknown. Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers.</div>
</front>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">22282650</PMID>
<DateCreated><Year>2012</Year>
<Month>02</Month>
<Day>07</Day>
</DateCreated>
<DateCompleted><Year>2012</Year>
<Month>07</Month>
<Day>19</Day>
</DateCompleted>
<DateRevised><Year>2012</Year>
<Month>08</Month>
<Day>30</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1526-632X</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>78</Volume>
<Issue>6</Issue>
<PubDate><Year>2012</Year>
<Month>Feb</Month>
<Day>07</Day>
</PubDate>
</JournalIssue>
<Title>Neurology</Title>
<ISOAbbreviation>Neurology</ISOAbbreviation>
</Journal>
<ArticleTitle>Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.</ArticleTitle>
<Pagination><MedlinePgn>417-20</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1212/WNL.0b013e318245f476</ELocationID>
<Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD), is unknown. Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Probands with familial PD were recruited through the French Parkinson Disease Genetic Study Group. All GBA exons were sequenced in probands and their relatives. To estimate the age-specific cumulative PD risk (i.e., penetrance) in GBA mutation carriers, we used the proband's phenotype exclusion likelihood method and corrected for selection of familial cases by considering the status of one affected relative per family as unknown.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Of 525 probands with familial PD, 24 (4.6%) were GBA mutation carriers. Of their 256 relatives, 43 (16.8%) had PD and 26 of 32 affected relatives tested for GBA mutations were mutation carriers; 213 relatives did not have PD and 31 of 71 of unaffected relatives tested for GBA mutations were mutation carriers. Under a dominant model, penetrance was estimated as 7.6%, 13.7%, 21.4%, and 29.7% at 50, 60, 70, and 80 years, respectively. There was no significant difference in penetrance at 70 years between N370S carriers, L444P carriers, and carriers of rarer mutations.</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">The relatively high penetrance estimate in GBA carriers obtained in this study should lead to consideration of GBA as a dominant causal gene with reduced penetrance and should be taken into account for genetic counseling in relatives of patients with GD and patients with GBA-associated PD.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Anheim</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>INSERM, U975, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Elbaz</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
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<Author ValidYN="Y"><LastName>Lesage</LastName>
<ForeName>S</ForeName>
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<Author ValidYN="Y"><LastName>Durr</LastName>
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<Author ValidYN="Y"><LastName>Condroyer</LastName>
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<Author ValidYN="Y"><LastName>Viallet</LastName>
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<Author ValidYN="Y"><LastName>Pollak</LastName>
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<Author ValidYN="Y"><LastName>Bonaïti</LastName>
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<Author ValidYN="Y"><LastName>Bonaïti-Pellié</LastName>
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<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>A</ForeName>
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</Author>
<Author ValidYN="Y"><CollectiveName>French Parkinson Disease Genetic Group</CollectiveName>
</Author>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2012</Year>
<Month>01</Month>
<Day>25</Day>
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</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Neurology</MedlineTA>
<NlmUniqueID>0401060</NlmUniqueID>
<ISSNLinking>0028-3878</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber>
<NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>AIM</CitationSubset>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Neurology. 2012 Jul 3;79(1):106-7</RefSource>
<PMID Version="1">22753448</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
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<MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName>
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<MeshHeading><DescriptorName UI="D005962" MajorTopicYN="N">Glucosylceramidase</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
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<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
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<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D019683" MajorTopicYN="N">Penetrance</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

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