Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

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

Neurobiology of aging（2016）

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摘要

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.

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