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Article

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.

Human mutation - 1 Apr 2011

Mutez Eugénie, Leprêtre Frédéric, Le Rhun Emilie, Larvor Lydie, Duflot Aurélie, Mouroux Vincent, Kerckaert Jean-Pierre, Figeac Martin, Dujardin Kathy, Destée Alain, Chartier-Harlin Marie-Christine

Abstract excerpt

Genomic multiplication of the alpha-synuclein gene (SNCA) locus is one cause of familial Parkinson disease (PD). We performed detailed genomic, SNCA expression level, clinical, neuropsychological and functional imaging analyses of a parkinsonian kindred with a known duplication of the SNCA locus. We demonstrated that the duplication spanned 4.928 Mb (encompassing 31 known and putative genes) and was the largest...

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Identifiers

PMID: 21412942
DOI: 10.1002/humu.21459

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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