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Article

Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2013

Proukakis Christos, Houlden Henry, Schapira Anthony H

Abstract excerpt

Alpha-synuclein (SNCA) is crucial in the pathogenesis of Parkinson's disease (PD), yet mutations in the SNCA gene are rare. Evidence for somatic genetic variation in normal humans, also involving the brain, is increasing, but its role in disease is unknown. Somatic SNCA mutations, arising in early development and leading to mosaicism, could contribute to PD pathogenesis and yet be absent or undetectable in DNA...

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Source

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Identifiers

PMID: 23674490
DOI: 10.1002/mds.25502
PMCID: PMC3739940

Genes

SNCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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