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Article

Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.

Journal of the neurological sciences - 15 Mar 2009

Tazir M, Ali-Pacha L, M'Zahem A, Delaunoy J P, Fritsch M, Nouioua S, Benhassine T, Assami S, Grid D, Vallat J M, Hamri A, Koenig M

Abstract excerpt

Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX). We analysed the phenotypic spectrum of 19 AOA2 patients with mutations in SETX, which seems to be the third most frequent form of ARCA in Algeria after Freidreich ataxia and Ataxia with vitamin E deficiency. In AOA2 patients, the mean age at onset for...

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Source

Identifiers

PMID: 19141356
DOI: 10.1016/j.jns.2008.12.004

Genes

SETX

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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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