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Scientific article
Open access
English

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

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
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
Main files (1)
Article (Published version)
accessLevelPublic
Identifiers
ISSN of the journal0003-9942
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734downloads

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