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

Research output: Contribution to journalArticle

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.

Details

Authors
  • 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
  • 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
Organisations
External organisations
  • University College London
  • Mayo Clinic Florida
  • University of New South Wales
  • University of Oxford
  • VU University Medical Center
  • University of Toronto
  • University of Gothenburg
  • University of Nottingham
  • University of Kiel
  • King's College London
  • University of Barcelona
  • University of Pennsylvania
  • Banner Sun Health Research Institute
  • Autonomous University of Barcelona
  • Pitié Salpetriere University Paris
  • University Hospital of Coimbra
  • CIBER Enfermedades Neurodegenerativas (CIBERNED)
  • University of Helsinki
  • Mayo Clinic Minnesota
  • Cardiff University
  • Washington University in St. Louis
  • Merck Research Laboratories
  • University of Manchester
  • University of Aveiro
  • National Institute on Aging, United States
  • Columbia University
  • University of California, San Diego
  • VA San Diego Healthcare System
  • National Institutes of Health, United States
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Geriatrics
  • Neurology

Keywords

  • C9orf72, Dementia with Lewy bodies (DLB), Genetic screen
Original languageEnglish
Article number214.e13-214.e15
JournalNeurobiology of Aging
Volume49
Early online date2016 Jul 13
Publication statusPublished - 2017 Jan
Publication categoryResearch
Peer-reviewedYes