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

TitleAnalysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
Publication TypeJournal Article
Year of Publication2016
AuthorsKun-Rodrigues, Celia, Owen A. Ross, Tatiana Orme, Claire Shepherd, Laura Parkkinen, Lee Darwent, Dena Hernandez, Olaf Ansorge, Lorraine N. Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Philippe Scheltens, Wiesje van der Flier, Eva Louwersheimer, Henne Holstege, Ekaterina Rogaeva, Peter St. George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Walter Maetzler, Daniela Berg, Claire Troakes, Safa al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna M. Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Jordi Clarimon, Alberto Lleó, Estrella Morenas-Rodríguez, Suzanne Lesage, Douglas R. Galasko, Eliezer Masliah, Isabel Santana, Monica Diez, Pau Pastor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Bradley F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott-Price, Neill R. Graff-Radford, Nigel J. Cairns, John C. Morris, David J. Stone, Stuart Pickering-Brown, David M. Mann, Dennis W. Dickson, Glenda M. Halliday, Andrew Singleton, Rita Guerreiro, and Jose Bras
JournalNeurobiology of Aging
Volume49
Pagination214_e13-214_e15
ISBN Number0197-4580
Accession NumberPMID: 27666590
AbstractC9orf72 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.
URLhttp://dx.doi.org/10.1016/j.neurobiolaging.2016.08.023
PMCIDPMCID: PMC5154872