TY - JOUR
T1 - ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry
AU - Borghero, G
AU - Pugliatti, M
AU - Marrosu, F
AU - Marrosu, Mg
AU - Murru,
AU - Floris, G
AU - Cannas, A
AU - Parish, Ld
AU - Cau, Tb
AU - Loi, D
AU - Ticca, A
AU - Traccis, S
AU - Manera, U
AU - Canosa, A
AU - Moglia, C
AU - Calvo, A
AU - Barberis, M
AU - Brunetti, M
AU - Renton, Ae
AU - Nalls, Ma
AU - Traynor, Bj
AU - Restagno, G
AU - Chiò, A
AU - Sabatelli, Mario
AU - Zollino, Marcella
AU - Conte, Amelia
AU - Luigetti, Marco
AU - Lattante, Serena
AU - Marangi, Giuseppe
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - Amyotrophic lateral sclerosis
KW - Ataxin 2 gene
KW - Genetic modifier
KW - Amyotrophic lateral sclerosis
KW - Ataxin 2 gene
KW - Genetic modifier
UR - https://publicatt.unicatt.it/handle/10807/71787
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=84976337440&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84976337440&origin=inward
U2 - 10.1016/j.neurobiolaging.2015.06.013
DO - 10.1016/j.neurobiolaging.2015.06.013
M3 - Article
SN - 0197-4580
VL - 36
SP - 2906.e1-2906.e1-5
JO - Neurobiology of Aging
JF - Neurobiology of Aging
IS - 10
ER -