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- W2012093225 abstract "<h3>Objective</h3> To analyze the ataxin 2 (<i>ATXN2</i>) CAG repeat size in a cohort of patients with amyotrophic lateral sclerosis (ALS) and healthy controls. Large (CAG)<sub>n</sub>alleles of the<i>ATXN2</i>gene (27-33 repeats) were recently reported to be associated with an increased risk of ALS. <h3>Design</h3> Case-control study. <h3>Setting</h3> France and Quebec, Canada. <h3>Participants</h3> A total of 556 case patients with ALS and 471 healthy controls; both groups of participants are of French or French-Canadian origin. <h3>Results</h3> We observed a significant association between<i>ATXN2</i>high-length alleles (≥29 CAG repeats) and ALS in French and French-Canadian ALS populations. Furthermore, we identified spinocerebellar ataxia type 2–pathogenic polyglutamine expansions (≥32 CAG repeats) in both familial and sporadic ALS cases. <h3>Conclusions</h3> Altogether, our findings support<i>ATXN2</i>high-length repeats as a risk factor for ALS and further indicate a genetic link between spinocerebellar ataxia type 2 and ALS." @default.
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- W2012093225 date "2011-06-01" @default.
- W2012093225 modified "2023-09-30" @default.
- W2012093225 title "Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis" @default.
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- W2012093225 doi "https://doi.org/10.1001/archneurol.2011.111" @default.
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