ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Leslie D. Parish, Tea B. Cau, Daniela Loi, Anna Ticca, Sebastiano Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, Alan E. Renton, Mike A. NallsBryan J. Traynor, Gabriella Restagno, Adriano Chiò, Francesco O. Logullo, Isabella Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Paola Origone, Francesca L. Conforti, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Riva Nilo, Giuseppe Lauria Pinter, Massimo Corbo, Paolo Volanti, Jessica Mandrioli, Nicola Fini, Eleni Georgoulopoulou, Lucio Tremolizzo, Rosaria Monsurrò Maria Rosaria Monsurrò, Gioacchino Tedeschi, the ITALSGEN and SARDINALS consortia

Research output: Contribution to journalArticlepeer-review

Abstract

Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with

Original languageEnglish
Pages (from-to)2906.e1-2906.e5
JournalNeurobiology of Aging
Volume36
Issue number10
DOIs
Publication statusPublished - Oct 1 2015

Keywords

  • Amyotrophic lateral sclerosis
  • Ataxin 2 gene
  • Genetic modifier

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology

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