Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies - Sorbonne Université
Journal Articles Neurobiology of Aging Year : 2017

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

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
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
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.
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Dates and versions

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

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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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