Article
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.
Neurology - 11 Dec 2012
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, Monsurrò Maria R, Gambardella Antonio, La Bella Vincenzo
Abstract excerpt
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:...
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