Authors
Hussein Daoud, Véronique Belzil, Sandra Martins, Mike Sabbagh, Pierre Provencher, Lucette Lacomblez, Vincent Meininger, William Camu, Nicolas Dupré, Patrick A Dion, Guy A Rouleau
Publication date
2011/6/13
Journal
Archives of neurology
Volume
68
Issue
6
Pages
739-742
Publisher
American Medical Association
Description
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)nalleles of theATXN2gene (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 betweenATXN2high-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 supportATXN2high-length repeats as a risk factor for ALS and further indicate a genetic link …
Total citations
Scholar articles
H Daoud, V Belzil, S Martins, M Sabbagh… - Archives of neurology, 2011