Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.
Identifieur interne : 000F59 ( PubMed/Curation ); précédent : 000F58; suivant : 000F60Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.
Auteurs : Marie-Christine Chartier-Harlin [France] ; Jennifer Kachergus ; Christophe Roumier ; Vincent Mouroux ; Xavier Douay ; Sarah Lincoln ; Clotilde Levecque ; Lydie Larvor ; Joris Andrieux ; Mary Hulihan ; Nawal Waucquier ; Luc Defebvre ; Philippe Amouyel ; Matthew Farrer ; Alain DestéeSource :
- Lancet (London, England) [ 1474-547X ]
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Female, Gene Dosage, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Lewy Body Disease (genetics), Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Nerve Tissue Proteins (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- diagnosis : Parkinson Disease.
- genetics : Lewy Body Disease, Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Female, Gene Dosage, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
Abstract
Genomic triplication of the alpha-synuclein gene (SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us to screen for multiplication of the SNCA locus in nine families in whom parkinsonism segregates as an autosomal dominant trait. One kindred was identified with SNCA duplication by semiquantitative PCR and confirmed by fluorescent in-situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplication families, the clinical phenotype of SNCA duplication closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findings suggest a direct relation between SNCA gene dosage and disease progression.
DOI: 10.1016/S0140-6736(04)17103-1
PubMed: 15451224
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Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name></author><author><name sortKey="Roumier, Christophe" sort="Roumier, Christophe" uniqKey="Roumier C" first="Christophe" last="Roumier">Christophe Roumier</name></author><author><name sortKey="Mouroux, Vincent" sort="Mouroux, Vincent" uniqKey="Mouroux V" first="Vincent" last="Mouroux">Vincent Mouroux</name></author><author><name sortKey="Douay, Xavier" sort="Douay, Xavier" uniqKey="Douay X" first="Xavier" last="Douay">Xavier Douay</name></author><author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name></author><author><name sortKey="Levecque, Clotilde" sort="Levecque, Clotilde" uniqKey="Levecque C" first="Clotilde" last="Levecque">Clotilde Levecque</name></author><author><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name></author><author><name sortKey="Waucquier, Nawal" sort="Waucquier, Nawal" uniqKey="Waucquier N" first="Nawal" last="Waucquier">Nawal Waucquier</name></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name></author><author><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name></author><author><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain 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qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</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>Female</term><term>Gene Dosage</term><term>Gene Duplication</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Polymerase Chain Reaction</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genomic triplication of the alpha-synuclein gene (SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us to screen for multiplication of the SNCA locus in nine families in whom parkinsonism segregates as an autosomal dominant trait. One kindred was identified with SNCA duplication by semiquantitative PCR and confirmed by fluorescent in-situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplication families, the clinical phenotype of SNCA duplication closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findings suggest a direct relation between SNCA gene dosage and disease progression.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">15451224</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>Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>1167-9</MedlinePgn></Pagination><Abstract><AbstractText>Genomic triplication of the alpha-synuclein gene (SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us to screen for multiplication of the SNCA locus in nine families in whom parkinsonism segregates as an autosomal dominant trait. One kindred was identified with SNCA duplication by semiquantitative PCR and confirmed by fluorescent in-situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplication families, the clinical phenotype of SNCA duplication closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findings suggest a direct relation between SNCA gene dosage and disease progression.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chartier-Harlin</LastName><ForeName>Marie-Christine</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>Unité INSERM 508, 1 rue du Pr Calmette, BP 245, 59019 Lille Cedex, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kachergus</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Roumier</LastName><ForeName>Christophe</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Mouroux</LastName><ForeName>Vincent</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Douay</LastName><ForeName>Xavier</ForeName><Initials>X</Initials></Author><Author ValidYN="Y"><LastName>Lincoln</LastName><ForeName>Sarah</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Levecque</LastName><ForeName>Clotilde</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Larvor</LastName><ForeName>Lydie</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Andrieux</LastName><ForeName>Joris</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Hulihan</LastName><ForeName>Mary</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Waucquier</LastName><ForeName>Nawal</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Defebvre</LastName><ForeName>Luc</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Amouyel</LastName><ForeName>Philippe</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>Alain</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="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018628" MajorTopicYN="N">Gene Dosage</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020440" MajorTopicYN="Y">Gene Duplication</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017404" MajorTopicYN="N">In Situ Hybridization, Fluorescence</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="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></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 PubStatus="pubmed"><Year>2004</Year><Month>9</Month><Day>29</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2004</Year><Month>10</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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