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Article

Aprataxin (APTX) gene mutations resembling multiple system atrophy.

Parkinsonism & related disorders - 1 Apr 2007

Baba Yasuhiko, Uitti Ryan J, Boylan Kevin B, Uehara Yoshinari, Yamada Tatsuo, Farrer Matthew J, Couchon Elizabeth, Batish Sat Dev, Wszolek Zbigniew K

Abstract excerpt

Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent studies showed clinical heterogeneity in patients with EAOH. We describe 2 patients whose clinical features resembled tho...

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Source

Identifiers

PMID: 17049295
DOI: 10.1016/j.parkreldis.2006.08.010

Genes

APTX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17049295-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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