Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis

Hussein Daoud, Véronique Belzil, Sandra Martins, Mike Sabbagh, Pierre Provencher, Lucette Lacomblez, Vincent Meininger, William Camu, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau

Research output: Contribution to journalArticle

64 Scopus citations

Abstract

Objective: To analyze the ataxin 2 (ATXN2) CAG repeat size in a cohort of patients with amyotrophic lateral sclerosis (ALS) and healthy controls. Large (CAG)n alleles of the ATXN2 gene (27-33 repeats) were recently reported to be associated with an increased risk of ALS. Design: Case-control study. Setting: France and Quebec, Canada. Participants: A total of 556 case patients with ALS and 471 healthy controls; both groups of participants are of French or French-Canadian origin. Results: We observed a significant association between ATXN2 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. Conclusions: Altogether, our findings support ATXN2 high-length repeats as a risk factor for ALS and further indicate a genetic link between spinocerebellar ataxia type 2 and ALS.

Original languageEnglish (US)
Pages (from-to)739-742
Number of pages4
JournalArchives of neurology
Volume68
Issue number6
DOIs
StatePublished - Jun 2011

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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    Daoud, H., Belzil, V., Martins, S., Sabbagh, M., Provencher, P., Lacomblez, L., Meininger, V., Camu, W., Dupré, N., Dion, P. A., & Rouleau, G. A. (2011). Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Archives of neurology, 68(6), 739-742. https://doi.org/10.1001/archneurol.2011.111