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Article

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

Archives of neurology - 1 Jan 2009

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

Abstract excerpt

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,...

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Source

Identifiers

PMID: 19139307
DOI: 10.1001/archneurol.2008.555

Genes

SNCA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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