ATXN2 trinucleotide repeat length correlates with risk of ALS

Vincenzo La Bella, Edor Kabashi, Pietro Fratta, Isabella Fogh, Hussein Daoud, Monica Forzan, Tim Van Langenhove, Serena Lattante, Christopher E. Shaw, Gianni Sorarù, Wouter Van Rheenen, William Sproviero, Ashley R. Jones, Maryam Shoai, Aleksey Shatunov, Peter M. Andersen, Peter M. Andersen, Jan H. Veldink, John Hardy, Giovanni StevaninMaria Del Mar Amador, Leonard H. Van Den Berg, Daniel Stahl, Maria Del Mar Amador, Ben Gaastra, Guy Rouleau, Aaron D. Gitler, Safa Al-Sarraj, Katie Sidle, Rosa Rademakers, Isabelle Le Ber, Katie Sidle, Andrea Malaspina, Owen A. Ross, Francesca L. Conforti, Ammar Al-Chalabi, Cinzia Gellera, Wim Robberecht, Richard Orrell, Nancy M. Bonini, Bing-Wen Soong, Vincent Meininger, Philip Van Damme, Christine Van Broeckhoven, John F. Powell, Bradley N. Smith, Claire Troakes, Francois Salachas, Stéphanie Millecamps, Yi-Chung Lee

Research output: Contribution to journalArticlepeer-review

46 Citations (Scopus)


We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37–3.94]; p = 6 × 10−18), with an exponential relationship between repeat length and ALS risk for alleles of 29–32 repeats (R2 = 0.91, p = 0.0002). No relationship was seen for repeat length and age of onset or survival. In contrast to trinucleotide repeat diseases, intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.
Original languageEnglish
Pages (from-to)178.e1-178.e9
Number of pages9
JournalNeurobiology of Aging
Publication statusPublished - 2017

All Science Journal Classification (ASJC) codes

  • General Neuroscience
  • Ageing
  • Developmental Biology
  • Clinical Neurology
  • Geriatrics and Gerontology


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