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Article

Replication analysis of the PRKN V380L (rs1801582) variant in a Japanese cohort of spinocerebellar ataxia type 3.

BMC neurology - 23 Jun 2026

Nadbitova Ekaterina, Takei Nobuyuki, Hirokawa Sachiko, Hatano Yuya, Ishihara Tomohiko, Onodera Osamu, Koike Yuka Mitsuhashi

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is caused by CAG repeat expansion in ATXN3, which inversely correlates with age at onset but does not fully account for interindividual variability. A recent study in a mixed European/South and North American cohort suggested that the PRKN V380L variant (rs1801582), particularly in C/C homozygotes, was associated with earlier disease onset. We therefore performed a...

Read the complete abstract on PubMed

Topics

Adult
Aged
Female
Humans

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Middle Aged

Age of Onset

Ataxin-3

Cohort Studies

East Asian People

Gene Frequency

Genetic Predisposition to Disease

Genotype

Japan

Machado-Joseph Disease

Polymorphism, Single Nucleotide

Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 42337487
DOI: 10.1186/s12883-026-05101-2
PMCID: PMC13543455

Genes

ATXN3
PRKN

Variants

rs1801582

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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