ParkinsonFranceV1, Main, Merge, bibRecord, 002113

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

Identifieur interne : 002113 ( Main/Merge ); précédent : 002112; suivant : 002114

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

Auteurs : Pablo Ibá Ez [France] ; Suzanne Lesage ; Sabine Janin ; Ebba Lohmann ; Frank Durif ; Alain Destée [France] ; Anne-Marie Bonnet ; Christine Brefel-Courbon ; Simon Heath ; Diana Zelenika ; Yves Agid [France] ; Alexandra Dürr ; Alexis Brice

Source :

Archives of neurology [ 1538-3687 ] ; 2009.

RBID : pubmed:19139307

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Brain Chemistry (genetics), Chromosome Breakage, DNA Mutational Analysis, DNA Repeat Expansion (genetics), Female, Gene Dosage (genetics), Genes, Dominant (genetics), Genetic Predisposition to Disease (genetics), Genetic Testing, Genotype, Haplotypes (genetics), Humans, Male, Microsatellite Repeats (genetics), Middle Aged, Oligonucleotide Array Sequence Analysis, Parkinsonian Disorders (genetics), Parkinsonian Disorders (metabolism), Parkinsonian Disorders (physiopathology), Polymorphism, Single Nucleotide (genetics), alpha-Synuclein (genetics).
MESH :
- chemical , genetics : alpha-Synuclein.
- genetics : Brain Chemistry, DNA Repeat Expansion, Gene Dosage, Genes, Dominant, Genetic Predisposition to Disease, Haplotypes, Microsatellite Repeats, Parkinsonian Disorders, Polymorphism, Single Nucleotide.
- metabolism : Parkinsonian Disorders.
- physiopathology : Parkinsonian Disorders.
- Adult, Aged, Aged, 80 and over, Chromosome Breakage, DNA Mutational Analysis, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Oligonucleotide Array Sequence Analysis.

Abstract

Genomic multiplications of the alpha-synuclein gene (SNCA) cause autosomal dominant Parkinson disease (ADPD). The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism.

Url:

http://www.hal.inserm.fr/inserm-00529237

DOI: 10.1001/archneurol.2008.555
PubMed: 19139307

Links to Exploration step

pubmed:19139307

Le document en format XML

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<front><div type="abstract" xml:lang="en">Genomic multiplications of the alpha-synuclein gene (SNCA) cause autosomal dominant Parkinson disease (ADPD). The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism.</div>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.</title>
<author><name sortKey="Iba Ez, Pablo" sort="Iba Ez, Pablo" uniqKey="Iba Ez P" first="Pablo" last="Ibá Ez">Pablo Ibá Ez</name>
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<author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<idno type="DOI">10.1001/archneurol.2008.555</idno>
<series><title level="j">Archives of Neurology -Chigago-</title>
<idno type="ISSN">0003-9942</idno>
<imprint><date type="datePub">2009-01</date>
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<front><div type="abstract" xml:lang="en">OBJECTIVE: Genomic multiplications of the alpha-synuclein gene (SNCA) cause autosomal dominant Parkinson disease (ADPD). The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism. DESIGN: Patients were screened by the exon dosage of the SNCA gene. The genotype of patients and relatives carrying SNCA rearrangements, the size of the multiplied regions, and the centromeric and telomeric breakpoints were determined by microsatellite dosage and 250K Affymetrix Single Polymorphism Nucleotide microarrays (Affymetrix, Santa Clara, California). SUBJECTS: Index cases and, whenever appropriate, relatives of 286 mainly European families with ADPD were screened. RESULTS: Four of 264 families (1.5%) with typical ADPD carried duplications and 1 of 22 families (4.5%) with atypical AD parkinsonism carried a triplication of SNCA. Genotyping and dosage analyses showed that the multiplied regions were variable in size (0.42-5.29 megabase pairs), suggesting that SNCA multiplications occurred independently. Phenotype analyses showed that the severity of the disease correlated with the SNCA copy number, but not with the minimal number of multiplied genes (1 to 33). Haplotype analysis of polymorphic markers suggested that multiplication of the SNCA gene occurred by both interchromosomal and intrachromosomal rearrangement. CONCLUSIONS: Our results suggest that SNCA rearrangements may be more frequent than point mutations in ADPD. Furthermore, our results indicate that the phenotype associated with SNCA multiplications correlates with the number of copies of the gene and provides the first insight into the mechanisms underlying SNCA multiplication.</div>
</front>
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<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.</title>
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<orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
<orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2009">2009</date>
<idno type="RBID">pubmed:19139307</idno>
<idno type="pmid">19139307</idno>
<idno type="doi">10.1001/archneurol.2008.555</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.</title>
<author><name sortKey="Iba Ez, Pablo" sort="Iba Ez, Pablo" uniqKey="Iba Ez P" first="Pablo" last="Ibá Ez">Pablo Ibá Ez</name>
<affiliation wicri:level="3"><nlm:affiliation>Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR)_S679 Neurologie & Thérapeutique Expérimentale, F-75013, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR)_S679 Neurologie & Thérapeutique Expérimentale, F-75013, Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
</author>
<author><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name>
</author>
<author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
</author>
<author><name sortKey="Durif, Frank" sort="Durif, Frank" uniqKey="Durif F" first="Frank" last="Durif">Frank Durif</name>
</author>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
<affiliation><country>France</country>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Hauts-de-France</region>
<region type="old region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name>
</author>
<author><name sortKey="Brefel Courbon, Christine" sort="Brefel Courbon, Christine" uniqKey="Brefel Courbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name>
</author>
<author><name sortKey="Heath, Simon" sort="Heath, Simon" uniqKey="Heath S" first="Simon" last="Heath">Simon Heath</name>
</author>
<author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name>
</author>
<author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name>
<affiliation><country>France</country>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
<orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName>
<country>France</country>
<placeName><settlement type="city">Paris</settlement>
<region type="region" nuts="2">Île-de-France</region>
</placeName>
<orgName type="hospital" n="4">Hôpital de la Salpêtrière</orgName>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</author>
</analytic>
<series><title level="j">Archives of neurology</title>
<idno type="eISSN">1538-3687</idno>
<imprint><date when="2009" type="published">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Brain Chemistry (genetics)</term>
<term>Chromosome Breakage</term>
<term>DNA Mutational Analysis</term>
<term>DNA Repeat Expansion (genetics)</term>
<term>Female</term>
<term>Gene Dosage (genetics)</term>
<term>Genes, Dominant (genetics)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Testing</term>
<term>Genotype</term>
<term>Haplotypes (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Microsatellite Repeats (genetics)</term>
<term>Middle Aged</term>
<term>Oligonucleotide Array Sequence Analysis</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonian Disorders (metabolism)</term>
<term>Parkinsonian Disorders (physiopathology)</term>
<term>Polymorphism, Single Nucleotide (genetics)</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>Brain Chemistry</term>
<term>DNA Repeat Expansion</term>
<term>Gene Dosage</term>
<term>Genes, Dominant</term>
<term>Genetic Predisposition to Disease</term>
<term>Haplotypes</term>
<term>Microsatellite Repeats</term>
<term>Parkinsonian Disorders</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Chromosome Breakage</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Oligonucleotide Array Sequence Analysis</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Genomic multiplications of the alpha-synuclein gene (SNCA) cause autosomal dominant Parkinson disease (ADPD). The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism.</div>
</front>
</TEI>
</PubMed>
</double>
</record>

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

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

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