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

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  • معلومة اضافية
    • Contributors:
      Borghero, Giuseppe; Pugliatti, Maura; Marrosu, Francesco; Marrosu, Maria Giovanna; Murru, Maria Rita; Floris, Gianluca; Cannas, Antonino; Parish, Leslie D.; Cau, Tea B.; Loi, Daniela; Ticca, Anna; Traccis, Sebastiano; Manera, Umberto; Canosa, Antonio; Moglia, Cristina; Calvo, Andrea; Barberis, Marco; Brunetti, Maura; Renton, Alan E.; Nalls, Mike A.; Traynor, Bryan J.; Restagno, Gabriella; Chiò, Adriano; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Mandich, Paola; Origone, Paola; Conforti, Francesca L.; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Lunetta, Christian; Penco, Silvana; Mosca, Lorena; Nilo, Riva; Pinter, Giuseppe Lauria; Corbo, Massimo; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Georgoulopoulou, Eleni; Tremolizzo, Lucio; Maria Rosaria Monsurrò, Null; Tedeschi, Gioacchino; Cristillo, Viviana; la Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Giannini, Fabio; Battistini, Stefania; Ricci, Claudia; Casale, Federico; Marrali, Giuseppe; Fuda, Giuseppe; Ossola, Irene; Cammarosano, Stefania; Ilardi, Antonio; Bertuzzo, Davide; Tanel, Raffaella; Pisano, Fabrizio; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Pirisi, Angelo; Occhineri, Patrizia; Ortu, Enzo
    • الموضوع:
      2015
    • Collection:
      Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto)
    • نبذة مختصرة :
      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.
    • Relation:
      info:eu-repo/semantics/altIdentifier/pmid/26208502; info:eu-repo/semantics/altIdentifier/wos/WOS:000360929100034; volume:36; issue:10(2906.e); firstpage:1; lastpage:5; numberofpages:5; journal:NEUROBIOLOGY OF AGING; info:eu-repo/grantAgreement/EC/FP7/259867; http://hdl.handle.net/2318/1563250; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84976337440; www.elsevier.com/locate/neuaging
    • الرقم المعرف:
      10.1016/j.neurobiolaging.2015.06.013
    • Rights:
      info:eu-repo/semantics/openAccess
    • الرقم المعرف:
      edsbas.3B6D9744