Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Duqette, A., Roddier, K., McNaab-Baltar, J., Gosselin, I., St-Denis, A., DICAIRE, M., LOISEL, L., Labuda, D., Marchand, L., Mathieu, J., Bouchard, J., & Brais, B. Annals of neurology, 57(3):408-414, Wiley-Liss, 2005. ![Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy [link]](https://bibbase.org/img/filetypes/link.svg "link")
Website abstract bibtex Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased α-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 dysarthria, saccadic ocular pursuit, distal amyotrophy, sensory and motor neuropathy, and increased α-fetoprotein levels but absence of oculomotor apraxia. Linkage disequilibrium was observed with markers in the ataxia-oculomotor apraxia 2 locus on chromosome 9q34. We have identified four mutations in senataxin in the French-Canadian population including two novel missense mutations: the 5927T→G mutation changes the leucine encoded by codon 1976 to an arginine in the helicase domain (L1976R), and the 193G→A mutation changes a glutamic acid encoded by codon 65 into a lysine in the N-terminal domain of the protein (E65K). The common L1976R mutation is shared by 17 of 20 (85%) carrier chromosomes. The study of this large French-Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in senataxin including the more common founder mutation in the French-Canadian population.
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title = {Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy},
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year = {2005},
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abstract = {Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased α-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 dysarthria, saccadic ocular pursuit, distal amyotrophy, sensory and motor neuropathy, and increased α-fetoprotein levels but absence of oculomotor apraxia. Linkage disequilibrium was observed with markers in the ataxia-oculomotor apraxia 2 locus on chromosome 9q34. We have identified four mutations in senataxin in the French-Canadian population including two novel missense mutations: the 5927T→G mutation changes the leucine encoded by codon 1976 to an arginine in the helicase domain (L1976R), and the 193G→A mutation changes a glutamic acid encoded by codon 65 into a lysine in the N-terminal domain of the protein (E65K). The common L1976R mutation is shared by 17 of 20 (85%) carrier chromosomes. The study of this large French-Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in senataxin including the more common founder mutation in the French-Canadian population.},
bibtype = {article},
author = {Duqette, Antoine and Roddier, Katel and McNaab-Baltar, Julia and Gosselin, Isabelle and St-Denis, Anik and DICAIRE, Marie-Josée and LOISEL, Lina and Labuda, Damian and Marchand, Luc and Mathieu, Jean and Bouchard, Jean-Pierre and Brais, Bernard},
journal = {Annals of neurology},
number = {3}
}
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