Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

被引：1

作者：

Daoud, Hussein ^{[4
]}

Belzil, Veronique ^{[4
]}

Martins, Sandra ^{[4
,6
]}

Sabbagh, Mike ^{[4
]}

Provencher, Pierre ^{[5
]}

Lacomblez, Lucette ^{[7
]}

Meininger, Vincent ^{[7
]}

Camu, William ^{[8
]}

Dupre, Nicolas ^{[5
]}

Dion, Patrick A. ^{[1
,4
]}

Rouleau, Guy A. ^{[2
,3
,4
]}

机构：

[1] Univ Montreal, Fac Med, Dept Pathol & Cell Biol, Ville De Quebec, PQ, Canada

[2] Univ Montreal, Fac Med, Dept Pathol & Cell Biol, Ville De Quebec, PQ, Canada

[3] Univ Montreal, Dept Pediat & Biochem, Ville De Quebec, PQ, Canada

[4] Univ Montreal, CHUM Res Ctr, Ctr Excellence Neur, Ville de Quebec, PQ, Canada

[5] Univ Quebec, Fac Med, Univ Laval, Ctr Hosp,Enfant Jesus Hosp, Ville de Quebec, PQ, Canada

[6] Univ Porto, Inst Mol Pathol & Immunol, Oporto, Portugal

[7] Hop La Pitie Salpetriere, Ctr Reference Malad Rares Sclerose Laterale Amyot, Paris, France

[8] Inst Biol, Unite Neurol Comportementale & Degenerat, Montpellier, France

来源：

ARCHIVES OF NEUROLOGY | 2011年 / 68卷 / 06期

基金：

加拿大健康研究院;

关键词：

SPINOCEREBELLAR ATAXIA TYPE-2; MUTATIONS; GENE; EXPANSION; CLONING; TDP-43;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：739 / 742

页数：4

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