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.
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry / Borghero, G.; Pugliatti, M.; Marrosu, F.; Marrosu, M. G.; Murru, M. R.; Floris, G.; Cannas, A.; Parish, L. D.; Cau, T. B.; Loi, D.; Ticca, A.; Traccis, S.; Manera, U.; Canosa, A.; Moglia, C.; Calvo, A.; Barberis, M.; Brunetti, M.; Renton, A. E.; Nalls, M. A.; Traynor, B. J.; Restagno, G.; Chio, A.; Logullo, F. O.; Simone, I.; Logroscino, G.; Salvi, F.; Bartolomei, I.; Capasso, M.; Caponnetto, C.; Mancardi, G.; Mandich, P.; Origone, P.; Conforti, F. L.; Mora, G.; Marinou, K.; Sideri, R.; Lunetta, C.; Penco, S.; Mosca, L.; Nilo, R.; Pinter, G. L.; Corbo, M.; Volanti, P.; Mandrioli, J.; Fini, N.; Georgoulopoulou, E.; Tremolizzo, L.; Maria Rosaria, Monsurro; Tedeschi, G.; Cristillo, V.; la Bella, V.; Spataro, R.; Colletti, T.; Sabatelli, M.; Zollino, M.; Conte, A.; Luigetti, M.; Lattante, S.; Marangi, G.; Santarelli, M.; Petrucci, A.; Giannini, F.; Battistini, S.; Ricci, C.; Casale, F.; Marrali, G.; Fuda, G.; Ossola, I.; Cammarosano, S.; Ilardi, A.; Bertuzzo, D.; Tanel, R.; Pisano, F.; Costantino, E.; Pani, C.; Puddu, R.; Caredda, C.; Piras, V.; Tranquilli, S.; Cuccu, S.; Corongiu, D.; Melis, M.; Milia, A.; Pirisi, A.; Occhineri, P.; Ortu, E.. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 36:10(2015), pp. 2906-2906.e5. [10.1016/j.neurobiolaging.2015.06.013]
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry
Mandrioli J.;
2015
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.
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