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

Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; Durif, Frank; Destée, Alain; Bonnet, Anne-Marie; Brefel-Courbon, Christine; Heath, Simon; Zelenika, Diana; Agid, Yves; Dürr, Alexandra; Brice, Alexis; French Parkinson's Disease Genetics Study Group

doi:10.1001/archneurol.2008.555

Scientific article

English

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

ContributorsIbáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; Durif, Frank; Destée, Alain; Bonnet, Anne-Marie; Brefel-Courbon, Christine; Heath, Simon; Zelenika, Diana; Agid, Yves; Dürr, Alexandra; Brice, Alexis; French Parkinson's Disease Genetics Study Group

CollaboratorsPollak, Pierre

Published inArchives of neurology, vol. 66, no. 1, p. 102-108

Publication date2009

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.

Keywords

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/metabolism/physiopathology
Polymorphism, Single Nucleotide/genetics
Alpha-Synuclein/genetics

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques

Research groups

Maladie de Parkinson (911)

Citation (ISO format)

IBÁÑEZ, Pablo et al. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. In: Archives of neurology, 2009, vol. 66, n° 1, p. 102–108. doi: 10.1001/archneurol.2008.555

Article (Published version)

Identifiers

PID : unige:45179
DOI : 10.1001/archneurol.2008.555
PMID : 19139307

ISSN of the journal0003-9942

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

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.

Technical informations