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; Peter St. George-Hyslop

doi:10.1016/j.neurobiolaging.2016.08.023

Journal Articles Neurobiology of Aging Year : 2017

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

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Celia Kun-Rodrigues

Function : Author

Owen A Ross

Function : Author

Tatiana Orme

Function : Author

Claire Shepherd

Function : Author

Laura Parkkinen

Function : Author

Lee Darwent

Function : Author

Dena Hernandez

Function : Author

Olaf Ansorge

Function : Author

Lorraine N Clark

Function : Author

Lawrence S Honig

Function : Author

Karen Marder

Function : Author

Afina Lemstra

Function : Author

Philippe Scheltens

Function : Author

Wiesje van der Flier

Function : Author

Eva Louwersheimer

Function : Author

Henne Holstege

Function : Author

Ekaterina Rogaeva

Function : Author

Peter St George-Hyslop

Function : Author

Elisabet Londos

Function : Author

Henrik Zetterberg

Function : Author

Imelda Barber

Function : Author

Anne Braae

Function : Author

Kristelle Brown

Function : Author

Kevin Morgan

Function : Author

Walter Maetzler

Function : Author

Daniela Berg

Function : Author

Claire Troakes

Function : Author

Safa Al-Sarraj

Function : Author

Tammaryn Lashley

Function : Author

Janice Holton

Function : Author

Yaroslau Compta

Function : Author

Vivianna van Deerlin

Function : Author

John Q Trojanowski

Function : Author

Geidy E Serrano

Function : Author

Thomas G Beach

Function : Author

Jordi Clarimon

Function : Author

Alberto Lleó

Function : Author

Estrella Morenas-Rodríguez

Function : Author

Suzanne Lesage

Function : Author

Institut du Cerveau = Paris Brain Institute

CHU Pitié-Salpêtrière [AP-HP]

Douglas Galasko

Function : Author

Eliezer Masliah

Function : Author

Isabel Santana

Function : Author

Monica Diez

Function : Author

Pau Pastor

Function : Author

Pentti J Tienari

Function : Author

Liisa Myllykangas

Function : Author

Minna Oinas

Function : Author

Tamas Revesz

Function : Author

Andrew Lees

Function : Author

Brad F Boeve

Function : Author

Ronald C Petersen

Function : Author

Tanis J Ferman

Function : Author

Valentina Escott-Price

Function : Author

Neill Graff-Radford

Function : Author

Nigel J Cairns

Function : Author

John C Morris

Function : Author

David J Stone

Function : Author

Stuart Pickering-Brown

Function : Author

David Mann

Function : Author

Dennis W Dickson

Function : Author

Glenda M Halliday

Function : Author

Andrew Singleton

Function : Author

Rita Guerreiro

Function : Author

Jose Bras

Function : Author
PersonId : 1359609
ORCID : 0000-0001-8186-0333

Peter St. George-Hyslop

Function : Author

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.

Keywords

C9orf72 Dementia with Lewy bodies (DLB) Genetic screen

Domains

Human health and pathology

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nihms826260.pdf (61.83 Ko)

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Gestionnaire HAL 3 Sorbonne Université : Connect in order to contact the contributor

https://hal.sorbonne-universite.fr/hal-04590470

Submitted on : Tuesday, May 28, 2024-12:07:21 PM

Last modification on : Wednesday, May 29, 2024-3:19:37 PM

Long-term archiving on : Thursday, August 29, 2024-6:38:21 PM

Dates and versions

hal-04590470 , version 1 (28-05-2024)

Identifiers

HAL Id : hal-04590470 , version 1
DOI : 10.1016/j.neurobiolaging.2016.08.023
PUBMED : 27666590
PUBMEDCENTRAL : PMC5154872

Cite

Celia Kun-Rodrigues, Owen A Ross, Tatiana Orme, Claire Shepherd, Laura Parkkinen, et al.. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of Aging, 2017, 49, pp.214.e13-214.e15. ⟨10.1016/j.neurobiolaging.2016.08.023⟩. ⟨hal-04590470⟩

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

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