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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<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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