Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9or...

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Chi tiết về thư mục
Những tác giả chính: Kun-Rodrigues, C, Ross, O, Orme, T, Shepherd, C, Parkkinen, L, Darwent, L, Hernandez, D, Ansorge, O, Clark, L, Honig, L, Marder, K, Lemstra, A, Scheltens, P, van der Flier, W, Louwersheimer, E, Holstege, H, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, Van Deerlin, V, Trojanowski, J, Serrano, G, Beach, T, Clarimon, J, Lleó, A, Morenas-Rodríguez, E, Lesage, S, Galasko, D, Masliah, E, Santana, I, Diez, M, Pastor, P, Tienari, P, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, B, Petersen, R, Ferman, T, Escott-Price, V, Graff-Radford, N, Cairns, N, Morris, J, Stone, D, Pickering-Brown, S, Mann, D, Dickson, D, Halliday, G, Singleton, A, Guerreiro, R, Bras, J
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: Elsevier 2016
Miêu tả
Tóm tắt:C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB.