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

Kun-Rodrigues, Celia and Ross, Owen A. and Orme, Tatiana and Shepherd, Claire and Parkkinen, Laura and Darwent, Lee and Hernandez, Dena and Ansorge, Olaf and Clark, Lorraine N. and Honig, Lawrence and Marder, Karen and Lemstra, Afina and Scheltens, Philip and Flier, Wiesje van der and Louwersheimer, Eva and Holstege, Henne and Rogaeva, Ekaterina and St. George-Hyslop, Peter and Londos, Elisabet and Zetterberg, Henrik and Barber, Imelda S. and Braae, Anne and Brown, Kristelle and Morgan, Kevin and Maetzler, Walter and Berg, Daniela and Troakes, C. and Al-Sarraj, S. and Lashley, Tammaryn and Holton, Janice and Compta, Yaroslau and Van Deerlin, Vivianna and Trojanowski, John Q. and Serrano, Geidy E. and Beach, Thomas G. and Clarimon, Jordi and Lleo, Alberto and Morenas-Rodriguez, Estrella and Lesage, Suzanne and Galasko, Douglas and Masliah, Eliezer and Santana, Isabel and Diez, Monica and Pastor, Pau and Tienari, Pentti J. and Myllykangas, Liisa and Oinas, Minna and Revesz, Tamas and Lees, Andrew and Boeve, Bradley F. and Petersen, Ronald C. and Ferman, Tanis J. and Escott-Price, Valentina and Graff-Radford, Neill R. and Cairns, Nigel and Morris, John C. and Stone, David and Pickering-Brown, Stuart and Mann, David and Dickson, Dennis W. and Halliday, Glenda M. and Singleton, Andrew and 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
Keywords: C9orf72; Dementia with Lewy Bodies (DLB); Genetic screen
Schools/Departments: University of Nottingham UK Campus > 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: 17 Sep 2016 11:54
URI: http://eprints.nottingham.ac.uk/id/eprint/36285

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