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

Mario Sabatelli, Marcella Zollino, Giuseppe Marangi, Amelia Conte, Marco Luigetti, Serena Lattante, 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 CanosaCristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, Alan E. Renton, Mike A. Nalls, Bryan 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, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Viviana Cristillo, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Angelo Pirisi, Patrizia Occhineri, Enzo Ortu

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

7 Citazioni (Scopus)

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 <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.
Lingua originaleEnglish
pagine (da-a)2906.e1-2906.e1-5
RivistaNeurobiology of Aging
Volume36
DOI
Stato di pubblicazionePubblicato - 2015

Keywords

  • Amyotrophic lateral sclerosis
  • Ataxin 2 gene
  • Genetic modifier

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