title: Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.
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.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  France and Quebec, Canada.
  
  
  METHODS
  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.
authors.affiliation: Centre for Excellence in Neuromics, CHUM Research Center, Université de Montréal, 2099 Alexandre De-Seve St, Montreal, QC H2L 2W5, Canada.
authors.forename: Hussein
authors.initials: H
authors.lastname: Daoud
authors.forename: Véronique
authors.initials: V
authors.lastname: Belzil
authors.forename: Sandra
authors.initials: S
authors.lastname: Martins
authors.forename: Mike
authors.initials: M
authors.lastname: Sabbagh
authors.forename: Pierre
authors.initials: P
authors.lastname: Provencher
authors.forename: Lucette
authors.initials: L
authors.lastname: Lacomblez
authors.forename: Vincent
authors.initials: V
authors.lastname: Meininger
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D000067528:Ataxins; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012307:Risk Factors; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D055815:Young Adult
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins