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, John C., Stone, David, Pickering-Brown, Stuart, Mann, David, Dickson, Dennis W., Halliday, Glenda M., Singleton, Andrew, Guerreiro, Rita and Bras, Jose (2016) Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies. Neurobiology of Aging . ISSN 1558-1497

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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.

Item Type: Article
RIS ID: https://nottingham-repository.worktribe.com/output/819445
Keywords: C9orf72; Dementia with Lewy Bodies (DLB); Genetic screen
Schools/Departments: University of Nottingham, UK > Faculty of Medicine and Health Sciences > School of Life Sciences > School of Molecular Medical Sciences > Human Genetics Research Group
Identification Number: https://doi.org/10.1016/j.neurobiolaging.2016.08.023
Depositing User: Morgan, Kevin
Date Deposited: 06 Sep 2016 14:25
Last Modified: 04 May 2020 18:13
URI: https://eprints.nottingham.ac.uk/id/eprint/36285

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