Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients |
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| Authors: | Hussein Daoud,Sylvia Dobrzeniecka,William Camu,Vincent Meininger,Nicolas Dupré ,Patrick A. Dion,Guy A. Rouleau |
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| Affiliation: | 1. Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Université de Montréal, Montreal, Quebec, Canada;2. Department of Neurology, ALS center, CHU de Montpellier, INSERM UMR 1051, Montpellier, France;3. Fédération des Maladies du Système Nerveux, APHP, Centre de référence maladies rares SLA, Hôpital Pitié-Salpêtrière, Paris, France;4. Faculty of Medicine, Laval University, Centre Hospitalier Affilié Universitaire de Québec – Enfant-Jesus Hospital, Quebec, Canada;5. Department of Pathology and Cell Biology, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada;6. Research Center, CHU Sainte-Justine, Montreal, Quebec, Canada |
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| Abstract: | Mutations in the profilin 1 (PFN1) gene, encoding a member of the profilin family of small actin-binding proteins, have been recently reported in patients with familial amyotrophic lateral sclerosis (ALS). In this study we aimed to determine the prevalence of PFN1 mutations by sequencing the coding region of this gene in a cohort of 94 familial ALS patients from France and Quebec. No mutations were identified in our cohort suggesting that PFN1 gene mutations are a very rare cause of familial ALS among patients with predominantly European ancestry. |
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| Keywords: | PFN1 Familial ALS Mutation analysis |
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