MovDisordV3, PubMed, Curation, bibRecord, 000883

Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.

Identifieur interne : 000883 ( PubMed/Curation ); précédent : 000882; suivant : 000884

Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.

Auteurs : Antonio E. Elia [Italie] ; Simona Petrucci ; Alfonso Fasano ; Marco Guidi ; Stefano Valbonesi ; Laura Bernardini ; Federica Consoli ; Alessandro Ferraris ; Alberto Albanese ; Enza Maria Valente

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.

RBID : pubmed:23744550

English descriptors

KwdEn :
- Adult, Aged, Female, Gene Duplication (genetics), Genetic Association Studies, Humans, Male, Middle Aged, Parkinsonian Disorders (genetics), Pedigree, alpha-Synuclein (genetics).
MESH :
- chemical , genetics : alpha-Synuclein.
- genetics : Gene Duplication, Parkinsonian Disorders.
- Adult, Aged, Female, Genetic Association Studies, Humans, Male, Middle Aged, Pedigree.

Abstract

Multiplications of the SNCA gene that encodes alpha-synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).

DOI: 10.1002/mds.25518
PubMed: 23744550

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Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.</title>
<author><name sortKey="Elia, Antonio E" sort="Elia, Antonio E" uniqKey="Elia A" first="Antonio E" last="Elia">Antonio E. Elia</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologia I, Istituto Neurologico Carlo Besta, Milano, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurologia I, Istituto Neurologico Carlo Besta, Milano</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name>
</author>
<author><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name>
</author>
<author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name>
</author>
<author><name sortKey="Valbonesi, Stefano" sort="Valbonesi, Stefano" uniqKey="Valbonesi S" first="Stefano" last="Valbonesi">Stefano Valbonesi</name>
</author>
<author><name sortKey="Bernardini, Laura" sort="Bernardini, Laura" uniqKey="Bernardini L" first="Laura" last="Bernardini">Laura Bernardini</name>
</author>
<author><name sortKey="Consoli, Federica" sort="Consoli, Federica" uniqKey="Consoli F" first="Federica" last="Consoli">Federica Consoli</name>
</author>
<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
</author>
<author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2013">2013</date>
<idno type="doi">10.1002/mds.25518</idno>
<idno type="RBID">pubmed:23744550</idno>
<idno type="pmid">23744550</idno>
<idno type="wicri:Area/PubMed/Corpus">000883</idno>
<idno type="wicri:Area/PubMed/Curation">000883</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.</title>
<author><name sortKey="Elia, Antonio E" sort="Elia, Antonio E" uniqKey="Elia A" first="Antonio E" last="Elia">Antonio E. Elia</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologia I, Istituto Neurologico Carlo Besta, Milano, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurologia I, Istituto Neurologico Carlo Besta, Milano</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name>
</author>
<author><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name>
</author>
<author><name sortKey="Guidi, Marco" sort="Guidi, Marco" uniqKey="Guidi M" first="Marco" last="Guidi">Marco Guidi</name>
</author>
<author><name sortKey="Valbonesi, Stefano" sort="Valbonesi, Stefano" uniqKey="Valbonesi S" first="Stefano" last="Valbonesi">Stefano Valbonesi</name>
</author>
<author><name sortKey="Bernardini, Laura" sort="Bernardini, Laura" uniqKey="Bernardini L" first="Laura" last="Bernardini">Laura Bernardini</name>
</author>
<author><name sortKey="Consoli, Federica" sort="Consoli, Federica" uniqKey="Consoli F" first="Federica" last="Consoli">Federica Consoli</name>
</author>
<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
</author>
<author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013" type="published">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Gene Duplication (genetics)</term>
<term>Genetic Association Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Pedigree</term>
<term>alpha-Synuclein (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Duplication</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Multiplications of the SNCA gene that encodes alpha-synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23744550</PMID>
<DateCreated><Year>2013</Year>
<Month>06</Month>
<Day>26</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>01</Month>
<Day>30</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>28</Volume>
<Issue>6</Issue>
<PubDate><Year>2013</Year>
<Month>Jun</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.</ArticleTitle>
<Pagination><MedlinePgn>813-7</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25518</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Multiplications of the SNCA gene that encodes alpha-synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">Here, we describe 2 novel families in which there is autosomal dominant PD associated with SNCA duplication, and we compare the clinical features of all known patients carrying 3 or 4 SNCA copies.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Affected members in family A presented with early onset PD that was variably associated with nonmotor features, such as dysautonomia, cognitive deficits, and psychiatric disturbances. In family B, the clinical presentation ranged from early onset PD-dementia with psychiatric disturbances to late onset PD with mild cognitive impairment.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The presence of 4 SNCA copies is associated with a rich phenotype, characterized by earlier onset of motor and nonmotor features compared with patients who bear 3 SNCA copies. The clinical spectrum associated with SNCA duplications is wide, even within a single family, suggesting a role for as yet unidentified genetic or environmental modifiers.</AbstractText>
<CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Elia</LastName>
<ForeName>Antonio E</ForeName>
<Initials>AE</Initials>
<AffiliationInfo><Affiliation>Neurologia I, Istituto Neurologico Carlo Besta, Milano, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Petrucci</LastName>
<ForeName>Simona</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Fasano</LastName>
<ForeName>Alfonso</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Guidi</LastName>
<ForeName>Marco</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Valbonesi</LastName>
<ForeName>Stefano</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Bernardini</LastName>
<ForeName>Laura</ForeName>
<Initials>L</Initials>
</Author>
<Author ValidYN="Y"><LastName>Consoli</LastName>
<ForeName>Federica</ForeName>
<Initials>F</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ferraris</LastName>
<ForeName>Alessandro</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Albanese</LastName>
<ForeName>Alberto</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Valente</LastName>
<ForeName>Enza Maria</ForeName>
<Initials>EM</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>
<ArticleDate DateType="Electronic"><Year>2013</Year>
<Month>06</Month>
<Day>06</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020440">Gene Duplication</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D056726">Genetic Association Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D051844">alpha-Synuclein</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year>
<Month>6</Month>
<Day>24</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2013</Year>
<Month>4</Month>
<Day>7</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2013</Year>
<Month>4</Month>
<Day>16</Day>
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<PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year>
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<PubMedPubDate PubStatus="medline"><Year>2014</Year>
<Month>1</Month>
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<Minute>0</Minute>
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</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.25518</ArticleId>
<ArticleId IdType="pubmed">23744550</ArticleId>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.

Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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Pour générer des pages wiki