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.
|Titolo:||ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry|
|Citazione:||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; Chiò, 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, Monsurrò; 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. - STAMPA. - 36:10(2015), pp. 2906.e1.2906.e1-2906.e1.2906.e5.|
|Appare nelle tipologie:||1.1 Articolo in rivista|