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Article

Homozygous alpha-synuclein p.A53V in familial Parkinson's disease.

Neurobiology of aging - 1 Sept 2017

Yoshino Hiroyo, Hirano Makito, Stoessl A Jon, Imamichi Yoko, Ikeda Aya, Li Yuanzhe, Funayama Manabu, Yamada Ikuko, Nakamura Yusaku, Sossi Vesna, Farrer Matthew J, Nishioka Kenya, Hattori Nobutaka

Abstract excerpt

We have assessed the frequency of alpha-synuclein (SNCA) mutations in Japanese patients with familial or sporadic Parkinson's disease (PD) and surveyed their associated clinical manifestations. We screened SNCA exon 3 in 988 patients without SNCA multiplications (430 with autosomal dominant PD and 558 with sporadic PD). We detected 1 patient harboring a homozygous SNCA p.A53V substitution albeit with an autosomal...

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Identifiers

PMID: 28666710
DOI: 10.1016/j.neurobiolaging.2017.05.022

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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