ATXN-1 intermediate poly-CAG expansions with CAT interruptions are a risk factor for ALS. The study, conducted by Dr. Conforti, ISN-CNR, together with Prof. La Bella from the ALS Clinical Research Center of Palermo, has demonstrated that both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated to an increased risk for ALS. The PolyQ lengths of ATXN-1 and ATXN-2 in 405 sALS, 13 fALS and 296 unrelated controls without history of neurodegenerative disorders were assessed. The results revealed PolyQ expansions 32 in 7.07% of ATXN-1 alleles and 28 in 2.72% of ATXN-2 alleles in the sporadic ALS cohort. ATXN-1 CAT and ATXN-2 CAA interruptions were detected in ALS patients only. Age at onset, site of onset, sex were not significantly related to the ATXN-1 and/or ATXN-2 PolyQ repeat length expansions. This study represents a new and important step towards understanding the genetic modifiers of the disease. F. L. Conforti, R. Spataro, W. Sproviero, R. Mazzei, F. Cavalcanti, F. Condino, I. L. Simone, G. Logroscino, A. Patitucci, A. Magariello, M. Muglia, C. Rodolico, P. Valentino, F. Bono, T. Colletti, M. R. Monsurro, A. Gambardella, and V. La Bella, 'Ataxin-1 and Ataxin-2 Intermediate-Length Polyq Expansions in Amyotrophic Lateral Sclerosis', Neurology, 79 (2012), 2315-20
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