Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Identifieur interne : 000F98 ( PubMed/Corpus ); précédent : 000F97; suivant : 000F99Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Auteurs : P. Ibá Ez ; A-M Bonnet ; B. Débarges ; E. Lohmann ; F. Tison ; P. Pollak ; Y. Agid ; A. Dürr ; A. BriceSource :
- Lancet (London, England) [ 1474-547X ]
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Disease Progression, Female, Gene Duplication, Humans, Lewy Body Disease (genetics), Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Nerve Tissue Proteins (genetics), Parkinson Disease (genetics), Phenotype, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Lewy Body Disease, Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Disease Progression, Female, Gene Duplication, Humans, Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Phenotype, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
Abstract
The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with reports of families with triplication of the same gene. These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene.
DOI: 10.1016/S0140-6736(04)17104-3
PubMed: 15451225
Links to Exploration step
pubmed:15451225Le document en format XML
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Tison</name></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Y. Agid</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="????"><PubDate><MedlineDate>2004 Sep 25-Oct 1</MedlineDate></PubDate></date><idno type="RBID">pubmed:15451225</idno><idno type="pmid">15451225</idno><idno type="doi">10.1016/S0140-6736(04)17104-3</idno><idno type="wicri:Area/PubMed/Corpus">000F98</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000F98</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.</title><author><name sortKey="Iba Ez, P" sort="Iba Ez, P" uniqKey="Iba Ez P" first="P" last="Ibá Ez">P. Ibá Ez</name><affiliation><nlm:affiliation>INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Bonnet, A M" sort="Bonnet, A M" uniqKey="Bonnet A" first="A-M" last="Bonnet">A-M Bonnet</name></author><author><name sortKey="Debarges, B" sort="Debarges, B" uniqKey="Debarges B" first="B" last="Débarges">B. Débarges</name></author><author><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E" last="Lohmann">E. Lohmann</name></author><author><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Y. Agid</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author></analytic><series><title level="j">Lancet (London, England)</title><idno type="eISSN">1474-547X</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Disease Progression</term><term>Female</term><term>Gene Duplication</term><term>Humans</term><term>Lewy Body Disease (genetics)</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lewy Body Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Disease Progression</term><term>Female</term><term>Gene Duplication</term><term>Humans</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with reports of families with triplication of the same gene. These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">15451225</PMID><DateCreated><Year>2004</Year><Month>09</Month><Day>28</Day></DateCreated><DateCompleted><Year>2004</Year><Month>10</Month><Day>13</Day></DateCompleted><DateRevised><Year>2015</Year><Month>06</Month><Day>16</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1474-547X</ISSN><JournalIssue CitedMedium="Internet"><Volume>364</Volume><Issue>9440</Issue><PubDate><MedlineDate>2004 Sep 25-Oct 1</MedlineDate></PubDate></JournalIssue><Title>Lancet (London, England)</Title><ISOAbbreviation>Lancet</ISOAbbreviation></Journal><ArticleTitle>Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>1169-71</MedlinePgn></Pagination><Abstract><AbstractText>The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with reports of families with triplication of the same gene. These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ibáñez</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bonnet</LastName><ForeName>A-M</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Débarges</LastName><ForeName>B</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Tison</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Pollak</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Lancet</MedlineTA><NlmUniqueID>2985213R</NlmUniqueID><ISSNLinking>0140-6736</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C497604">SNCA protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051843">Synucleins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Lancet. 2004 Sep 25-Oct 1;364(9440):1105-7</RefSource><PMID Version="1">15451205</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018450" MajorTopicYN="N">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020440" MajorTopicYN="Y">Gene Duplication</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020961" MajorTopicYN="N">Lewy Body Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018895" MajorTopicYN="N">Microsatellite Repeats</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016133" MajorTopicYN="N">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051843" MajorTopicYN="N">Synucleins</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051844" MajorTopicYN="N">alpha-Synuclein</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate 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