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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...

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Authors

Celia Kun-Rodrigues

Owen A. Ross

Tatiana Orme

Claire Shepherd

Laura Parkkinen

Lee Darwent

Dena Hernandez

Olaf Ansorge

Lorraine N. Clark

Lawrence Honig

Karen Marder

Afina Lemstra

Philip Scheltens

Wiesje van der Flier

Eva Louwersheimer

Henne Holstege

Ekaterina Rogaeva

Peter St. George-Hyslop

Elisabet Londos

Henrik Zetterberg

Imelda S. Barber

Anne Braae

Kevin Morgan

Walter Maetzler

Daniela Berg

C. Troakes

S. Al-Sarraj

Tammaryn Lashley

Janice Holton

Yaroslau Compta

Vivianna Van Deerlin

John Q. Trojanowski

Geidy E. Serrano

Thomas G. Beach

Jordi Clarimon

Alberto Lleo

Estrella Morenas-Rodriguez

Suzanne Lesage

Douglas 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 Cairns

John C. Morris

David Stone

Stuart Pickering-Brown

David Mann

Dennis W. Dickson

Glenda M. Halliday

Andrew Singleton

Rita Guerreiro

Jose Bras



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., Hernandez, D., Ansorge, O., Clark, L. N., Honig, L., Marder, K., Lemstra, A., Scheltens, P., Flier, W. V. D., Louwersheimer, E., Holstege, H., Rogaeva, E., St. George-Hyslop, P., Londos, E., Zetterberg, H., …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
Contract Date Sep 6, 2016

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