Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
Identifieur interne : 001F58 ( Main/Exploration ); précédent : 001F57; suivant : 001F59Alpha-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 BriceSource :
- Archives of neurology [ 1538-3687 ] ; 2009.
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:
DOI: 10.1001/archneurol.2008.555
PubMed: 19139307
Affiliations:
- France
- Hauts-de-France, Nord-Pas-de-Calais, Île-de-France
- Lille, Paris
- Hôpital de la Salpêtrière, Université Lille 2, Université Lille Nord de France
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Le document en format XML
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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><affiliations><list><country><li>France</li></country><region><li>Hauts-de-France</li><li>Nord-Pas-de-Calais</li><li>Île-de-France</li></region><settlement><li>Lille</li><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li><li>Université Lille 2</li><li>Université Lille Nord de France</li></orgName></list><tree><noCountry><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name><name sortKey="Brefel Courbon, Christine" sort="Brefel Courbon, Christine" uniqKey="Brefel Courbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Durif, Frank" sort="Durif, Frank" uniqKey="Durif F" first="Frank" last="Durif">Frank Durif</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Heath, Simon" sort="Heath, Simon" uniqKey="Heath S" first="Simon" last="Heath">Simon Heath</name><name sortKey="Janin, Sabine" sort="Janin, Sabine" uniqKey="Janin S" first="Sabine" last="Janin">Sabine Janin</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Iba Ez, Pablo" sort="Iba Ez, Pablo" uniqKey="Iba Ez P" first="Pablo" last="Ibá Ez">Pablo Ibá Ez</name></region><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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