{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:40:30Z","timestamp":1791214830414,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,2,24]],"date-time":"2005-02-24T00:00:00Z","timestamp":1109203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Senataxin<\/jats:italic> recently was identified as the mutated gene in ataxia\u2010oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased \u03b1\u2010fetoprotein levels. In this study, we evaluated 24 ataxic patients from 10 French\u2010Canadian 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 dysarthria, saccadic ocular pursuit, distal amyotrophy, sensory and motor neuropathy, and increased \u03b1\u2010fetoprotein levels but absence of oculomotor apraxia. Linkage disequilibrium was observed with markers in the ataxia\u2010oculomotor apraxia 2 locus on chromosome 9q34. We have identified four mutations in <jats:italic>senataxin<\/jats:italic> in the French\u2010Canadian population including two novel missense mutations: the 5927T\u2192G mutation changes the leucine encoded by codon 1976 to an arginine in the helicase domain (L1976R), and the 193G\u2192A mutation changes a glutamic acid encoded by codon 65 into a lysine in the N\u2010terminal domain of the protein (E65K). The common L1976R mutation is shared by 17 of 20 (85%) carrier chromosomes. The study of this large French\u2010Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in <jats:italic>senataxin<\/jats:italic> including the more common founder mutation in the French\u2010Canadian population. Ann Neurol 2005;57:408\u2013414<\/jats:p>","DOI":"10.1002\/ana.20408","type":"journal-article","created":{"date-parts":[[2005,2,24]],"date-time":"2005-02-24T17:33:33Z","timestamp":1109266413000},"page":"408-414","source":"Crossref","is-referenced-by-count":91,"title":["Mutations in senataxin responsible for Quebec cluster of ataxia with 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