Data di Pubblicazione:
2015
Citazione:
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry / Borghero, G., Pugliatti, M., Marrosu, F., Marrosu Maria, G., Murru Maria, R., Floris, G., Cannas, A., Parish Leslie, D., Cau Tea, B., Loi, D., Ticca, A., Traccis, S., Manera, U., Canosa, A., Moglia, C., Calvo, A., Barberis, M., Brunetti, M., Renton Alan, E., Nalls Mike, A., et al.. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 36:10(2015), pp. 2906-2906.e5. [10.1016/j.neurobiolaging.2015.06.013]
Abstract:
Intermediate-length CAG expansions (encoding 27e33 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 ¼ 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 ¼ 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
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 ¼ 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 ¼ 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
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Amyotrophic lateral sclerosis; Ataxin 2 gene; Genetic modifier; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and Gerontology
Elenco autori:
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
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