Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

作者：Conforti Francesca L; Spataro Rossella; Sproviero William; Mazzei Rosalucia; Cavalcanti Francesca; Condino Francesca; Simone Isabella L; Logroscino Giancarlo; Patitucci Alessandra; Magariello Angela; Muglia Maria; Rodolico Carmelo; Valentino Paola; Bono Francesco; Colletti Tiziana; Monsurro Maria R; Gambardella Antonio; La Bella Vincenzo^*

来源：Neurology, 2012, 79(24): 2315-2320.

DOI：10.1212/WNL.0b013e318278b618

Objective: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (ATXN-2) gene are a risk factor for amyotrophic lateral sclerosis (ALS). This work was undertaken with the aim to investigate the frequency of ataxin-1 (ATXN-1) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy. %26lt;br%26gt;Methods: We assessed the PolyQ lengths of ATXN-1 and ATXN-2 in 405 patients with sALS, 13 patients with fALS, and 296 unrelated controls without history of neurodegenerative disorders. %26lt;br%26gt;Results: We found significantly higher intermediate PolyQ expansions %26gt;= 32 for ATXN-1 alleles and %26gt;= 28 for ATXN-2 alleles in the sALS cohort (ATXN-1: ALS, 7.07% vs controls, 2.38%; p = 0.0001; ATXN-2: ALS, 2.72% vs controls, 0.5%; p = 0.001). ATXN-1 CAT and ATXN-2 CAA interruptions were detected in patients with ALS only. Age at onset, site of onset, and sex were not significantly related to the ATXN-1 or ATXN-2 PolyQ repeat length expansions. %26lt;br%26gt;Conclusions: Both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated with an increased risk for ALS. Neurology (R) 2012;79:2315-2320

• 出版日期2012-12