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Article

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.

Annals of neurology - 1 Mar 2005

Duquette Antoine, Roddier Katel, McNabb-Baltar Julia, Gosselin Isabelle, St-Denis Anik, Dicaire Marie-Josée, Loisel Lina, Labuda Damian, Marchand Luc, Mathieu Jean, Bouchard Jean-Pierre, Brais Bernard

Abstract excerpt

Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased alpha-fetoprotein levels. In this study, we evaluated 24 ataxic patients from 10 French-Canadian families. All cases have a homogeneous phenotype consisting of a progressive ataxia appearing between 2 and 20 (mean age, 14.8) years of age with associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 15732101
DOI: 10.1002/ana.20408

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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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