Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies

Kun-Rodrigues, Celia; Ross, Owen A.; Orme, Tatiana; Shepherd, Claire; Parkkinen, Laura; Darwent, Lee; Hernandez, Dena; Ansorge, Olaf; Clark, Lorraine N.; Honig, Lawrence; Marder, Karen; Lemstra, Afina; Scheltens, Philip; Flier, Wiesje van der; Louwersheimer, Eva; Holstege, Henne; Rogaeva, Ekaterina; St. George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Barber, Imelda S.; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Maetzler, Walter; Berg, Daniela; Troakes, C.; Al-Sarraj, S.; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Van Deerlin, Vivianna; Trojanowski, John Q.; Serrano, Geidy E.; Beach, Thomas G.; Clarimon, Jordi; Lleo, Alberto; Morenas-Rodriguez, Estrella; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Diez, Monica; Pastor, Pau; Tienari, Pentti J.; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Bradley F.; Petersen, Ronald C.; Ferman, Tanis J.; Escott-Price, Valentina; Graff-Radford, Neill R.; Cairns, Nigel; Morris, Jo...

Abstract

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken in order 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.

Citation

Kun-Rodrigues, C., Ross, O. A., Orme, T., Shepherd, C., Parkkinen, L., Darwent, L., …Bras, J. (in press). Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies. Neurobiology of Aging, https://doi.org/10.1016/j.neurobiolaging.2016.08.023

• Journal Article Type: Article
• Acceptance Date: Aug 25, 2016
• Online Publication Date: Sep 2, 2016
• Deposit Date: Sep 6, 2016
• Publicly Available Date: Sep 6, 2016
• Journal: Neurobiology of Aging
• Print ISSN: 0197-4580
• Electronic ISSN: 1558-1497
• Publisher: Elsevier
• Peer Reviewed: Peer Reviewed
• DOI: https://doi.org/10.1016/j.neurobiolaging.2016.08.023
• Keywords: C9orf72; Dementia with Lewy Bodies (DLB); Genetic screen
• Public URL: https://nottingham-repository.worktribe.com/output/819445
• Publisher URL: http://www.sciencedirect.com/science/article/pii/S0197458016302019