Data di Pubblicazione:
2015
Citazione:
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry / 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. - 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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