ATXN2 polyQ intermediate repeats are a modifier of ALS survival

Adriano Chiò, Andrea Calvo, Cristina Moglia, Antonio Canosa, Maura Brunetti, Marco Barberis, Gabriella Restagno, Amelia Conte, Giulia Bisogni, Giuseppe Marangi, Alice Moncada, Serena Lattante, Marcella Zollino, Mario Sabatelli, Alessandra Bagarotti, Lucia Corrado, Gabriele Mora, Enrica Bersano, Letizia Mazzini, Sandra D'Alfonso

Research output: Contribution to journalArticlepeer-review


Objective: To analyze the frequency and clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) with intermediate-length (CAG) expansion (encoding 27-33 glutamines, polyQ) in the ATXN2 gene, in a population-based cohort of Italian patients with ALS (discovery cohort), and to replicate the findings in an independent cohort of consecutive patients from an ALS tertiary center (validation cohort). Methods: PolyQ repeats were assessed in 672 patients with incident ALS in Piemonte and Valle d'Aosta regions, Italy, in the 2007-2012 period (discovery cohort); controls were 509 neurologically healthy age-and sex-matched subjects resident in the study area. The validation cohort included 661 patients with ALS consecutively seen between 2001 and 2013 in the ALS Clinic Center of the Catholic University in Rome, Italy. Results: In the discovery cohort, the frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (19 patients vs 1 control, p 5 0.0001; odds ratio 14.8, 95% confidence interval 1.9-110.8). Patients with an increased number of polyQ repeats had a shorter survival than those with

Original languageEnglish
Pages (from-to)251-258
Number of pages8
Issue number3
Publication statusPublished - 2015

ASJC Scopus subject areas

  • Clinical Neurology
  • Medicine(all)

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