Through a joint study carried out in cooperation with Italian scientists, among which ISN-CNR researchers, a total of 1972 ALS cases were identified. The study population included: 333 Italian ALS cases who carried the C9ORF72expansion, 1639 Italian ALS not carrying the C9ORF72 expansion and 1043 controls. In this study the large series of Italian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, did not reveal an increased occurrence of ATXN2 polyQ intermediate length repeats. In contrast, the study confirmed that in patients without C9ORF72 expansion, ATXN2 polyQ intermediate length repeats are associated with a higher risk of ALS and their presence are additionally associated with reduced survival in ALS patients. Our findings highlight the importance of having complete genetic information on ALS patients when assessing putative genetic modifiers. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion. Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium, Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL. Neurobiol Aging. 2015 Dec 8. pii: S0197-4580(15)00600-4. doi: 10.1016/j.neurobiolaging.2015.11.027.
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