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.

Borghero, G., Pugliatti, M., Marrosu, F., Marrosu, M., Murru, M., Floris, G., et al. (2015). ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. NEUROBIOLOGY OF AGING, 36(10), 2906-2906.e5 [10.1016/j.neurobiolaging.2015.06.013].

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Tremolizzo, L
Membro del Collaboration Group
;
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.
Articolo in rivista - Articolo scientifico
Amyotrophic lateral sclerosis; Ataxin 2 gene; Genetic modifier;
Amyotrophic lateral sclerosis; Ataxin 2 gene; Genetic modifier; Amyotrophic Lateral Sclerosis; Ataxin-2; Female; Humans; Italy; Male; Middle Aged; Risk Factors; Survival Rate; Trinucleotide Repeat Expansion; Genetic Association Studies; Phenotype; Medicine (all)
English
2015
36
10
2906
2906.e5
none
Borghero, G., Pugliatti, M., Marrosu, F., Marrosu, M., Murru, M., Floris, G., et al. (2015). ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. NEUROBIOLOGY OF AGING, 36(10), 2906-2906.e5 [10.1016/j.neurobiolaging.2015.06.013].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/139795
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