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Article

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

PloS one - 1 Jan 2016

Sweadner Kathleen J, Toro Camilo, Whitlow Christopher T, Snively Beverly M, Cook Jared F, Ozelius Laurie J, Markello Thomas C, Brashear Allison

Abstract excerpt

A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several lines of evidence suggest that the variant is causative. ATP1A3 mutations can cause rapid-onset dystonia-parkinsonism (RDP) with a similar age and speed of onset, as well as severe diseases of...

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Source

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Identifiers

PMID: 26990090
DOI: 10.1371/journal.pone.0151429
PMCID: PMC4798776

Genes

GPRIN1
UBQLN4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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