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Article

Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.

Neurobiology of aging - 1 Oct 2015

Chen Kai-Hsiang, Wu Ruey-Meei, Lin Hang-I, Tai Chun-Hwei, Lin Chin-Hsien

Abstract excerpt

Whole-exome sequencing recently identified a homozygous truncating mutation in Synaptojanin 1 (SYNJ1, PARK20), p.Arg258Gln, in 2 independent families with autosomal recessive young-onset parkinsonism with seizures and cognitive decline. This mutation's role in typical Parkinson's disease (PD) is unclear. We sequenced all coding exons and exon-intron boundaries of SYNJ1 gene in a total of 700 participants: 250...

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Source

Identifiers

PMID: 26149920
DOI: 10.1016/j.neurobiolaging.2015.06.009

Genes

SYNJ1

Variants

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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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