Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.
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.
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Celia
C
Kun-Rodrigues
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Owen A
OA
Ross
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Tatiana
T
Orme
Neuroscience Research Australia, Sydney, Australia; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Claire
C
Shepherd
Nuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
Laura
L
Parkkinen
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Lee
L
Darwent
Laboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA.
Dena
D
Hernandez
Nuffield Department of Clinical Neurosciences, Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.
Olaf
O
Ansorge
Taub Institute for Alzheimer Disease and the Aging Brain, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Lorraine N
LN
Clark
Taub Institute for Alzheimer Disease and the Aging Brain, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Lawrence S
LS
Honig
Taub Institute for Alzheimer Disease and the Aging Brain, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Karen
K
Marder
Department of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Afina
A
Lemstra
Department of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Philippe
P
Scheltens
Department of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Wiesje
W
van der Flier
Department of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Eva
E
Louwersheimer
Department of Neurology and Alzheimer Center, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.
Henne
H
Holstege
Department of Medicine, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Ekaterina
E
Rogaeva
Department of Medicine, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Peter
P
St George-Hyslop
Clinical Memory Research Unit, Institution of Clinical Sciences Malmö, Lund University, Lund, Sweden.
Elisabet
E
Londos
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Clinical Neurochemistry Laboratory, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
Henrik
H
Zetterberg
Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Imelda
I
Barber
Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Anne
A
Braae
Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Kristelle
K
Brown
Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.
Kevin
K
Morgan
Hertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology, University of Tuebingen, Tuebingen, Germany; Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Walter
W
Maetzler
Hertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology, University of Tuebingen, Tuebingen, Germany; Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Daniela
D
Berg
Department of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Claire
C
Troakes
Department of Basic and Clinical Neuroscience and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Safa
S
Al-Sarraj
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Tammaryn
T
Lashley
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Janice
J
Holton
Movement Disorders Unit, Neurology Service, Clinical Neuroscience Institute (ICN), Hospital Clínic, University of Barcelona, IDIBAPS, Barcelona, Spain.
Yaroslau
Y
Compta
Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Vivianna
V
Van Deerlin
Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
John Q
JQ
Trojanowski
Banner Sun Health Research Institute, Sun City, AZ, USA.
Geidy E
GE
Serrano
Banner Sun Health Research Institute, Sun City, AZ, USA.
Thomas G
TG
Beach
Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universidad Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Jordi
J
Clarimon
Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universidad Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Alberto
A
Lleó
Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universidad Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Estrella
E
Morenas-Rodríguez
Sorbonne Université, Université Pierre et Marie Curie-Paris 06, Inserm, Centre National de la Reserche Scientifique, Institute du Cerveau et de la Moelle épinière, Paris, France; Assistance Publique Hôpitaux de Paris, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.
Suzanne
S
Lesage
Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA.
Douglas
D
Galasko
Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA; Veterans Affairs San Diego Healthcare System, La Jolla, CA, USA.
Eliezer
E
Masliah
Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Isabel
I
Santana
Memory Unit, Department of Neurology, University Hospital Mútua de Terrassa, and Foundation Mútua de Terrassa, Barcelona, Spain; Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Monica
M
Diez
Memory Unit, Department of Neurology, University Hospital Mútua de Terrassa, and Foundation Mútua de Terrassa, Barcelona, Spain; Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
Pau
P
Pastor
Molecular Neurology, Research Programs Unit, University of Helsinki, Department of Neurology, Helsinki University Hospital, Helsinki, Finland.
Pentti J
PJ
Tienari
Department of Pathology, University of Helsinki, Helsinki, Finland and HUSLAB.
Liisa
L
Myllykangas
Department of Neuropathology and Neurosurgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Minna
M
Oinas
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Tamas
T
Revesz
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Andrew
A
Lees
Neurology Department, Mayo Clinic, Rochester, MN, USA.
Brad F
BF
Boeve
Neurology Department, Mayo Clinic, Rochester, MN, USA.
Ronald C
RC
Petersen
Department of Psychiatry, Mayo Clinic, Jacksonville, FL, USA; Department of Psychology, Mayo Clinic, Jacksonville, FL, USA.
Tanis J
TJ
Ferman
MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.
Valentina
V
Escott-Price
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Neill
N
Graff-Radford
Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Nigel J
NJ
Cairns
Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
John C
JC
Morris
Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA.
David J
DJ
Stone
Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
Stuart
S
Pickering-Brown
Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
David
D
Mann
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Dennis W
DW
Dickson
Neuroscience Research Australia, Sydney, Australia; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Glenda M
GM
Halliday
Laboratory of Neurogenetics, National Institutes on Aging, NIH, Bethesda, MD, USA.
Andrew
A
Singleton
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal.
Rita
R
Guerreiro
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK; Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address: j.bras@ucl.ac.uk.
Jose
J
Bras
D000073885:C9orf72 Protein / Q000235:genetics*; D015331:Cohort Studies; D042622:DNA Repeat Expansion / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics*
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human
C9orf72; Dementia with Lewy bodies (DLB); Genetic screen
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