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

Rossella Spataro, Vincenzo La Bella, Tiziana Colletti, Rosalucia Mazzei, William Sproviero, Rosalucia Mazzei, Paola Valentino, Carmelo Rodolico, Maria R. Monsurrò, Alessandra Patitucci, Angela Magariello, Paola Valentino, Francesca L. Conforti, Isabella L. Simone, Maria Muglia, Giancarlo Logroscino, Francesca Cavalcanti, Francesco Bono, Antonio Gambardella, Francesca Condino

Risultato della ricerca: Articlepeer review

50 Citazioni (Scopus)

Abstract

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.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.RESULTS:We found significantly higher intermediate PolyQ expansions ≥ 32 for ATXN-1 alleles and ≥ 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.CONCLUSIONS:Both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated with an increased risk for ALS.
Lingua originaleEnglish
Numero di pagine6
RivistaNeurology
Volume24
Stato di pubblicazionePublished - 2012

All Science Journal Classification (ASJC) codes

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