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 S., Marder, Karen, Lemstra, Afina, Scheltens, Philippe, van der Flier, Wiesje, Louwersheimer, Eva, Holstege, Henne, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Barber, Imelda, Braae, Anne, Brown, Kristelle, Morgan, Kevin, Maetzler, Walter, Berg, Daniela, Troakes, Claire, Al-Sarraj, Safa, Lashley, Tammaryn, Holton, Janice, Compta, Yaroslau, Van Deerlin, Vivianna, Trojanowski, John Q., Serrano, Geidy E., Beach, Thomas G., Clarimon, Jordi, Lleó, Alberto, Morenas-Rodríguez, 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, Brad F., Petersen, Ronald C., Ferman, Tanis J., Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Graff-Radford, Neill, Cairns, Nigel J., Morris, John C., Stone, David J., Pickering-Brown, Stuart, Mann, David, Dickson, Dennis W., Halliday, Glenda M., Singleton, Andrew, Guerreiro, Rita and Bras, Jose 2017. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of Aging 49 , 214.e13-214.e15. 10.1016/j.neurobiolaging.2016.08.023

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	C9orf72; Dementia with Lewy bodies (DLB); Genetic screen
Publisher:	Elsevier
ISSN:	0197-4580
Date of First Compliant Deposit:	16 November 2016
Date of Acceptance:	25 August 2016
Last Modified:	14 Nov 2023 16:31
URI:	https://orca.cardiff.ac.uk/id/eprint/96212

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