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A comprehensive screening of copy-number variability in dementia with Lewy bodies

Kun-Rodrigues, Celia; Orme, Tatiana; Carmona, Susana; Hernandez, Dena G; Ross, Owen A; Eicher, John D; Shepherd, Claire; Parkkinen, Laura; Darwent, Lee; Heckman, Michael G; Scholz, Sonja W; Troncoso, Juan C; Pletnikova, Olga; Ansorge, Olaf; Clarimon, Jordi; Lleo, Alberto; Morenas-Rodriguez, Estrella; Clark, Lorraine; Honig, Lawrence S; Marder, Karen; Lemstra, Afina; Rogaeva, Ekaterina; St. George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Barber, Imelda; Braae, Anne; Brown, Kristelle; Morgan, Kevin; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Deerlin, Vivianna Van; Serrano, Geidy E; Beach, Thomas G; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Pastor, Pau; Diez-Fairen, Monica; Aguilar, Miquel; Tienari, Pentti J; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Brad F; Petersen, Ronald C; Ferman, Tanis J; Escott-Price, Valentina; Graff-Radford, Neill; Cairns, Nigel J; Morris, John C; Picke...


Celia Kun-Rodrigues

Tatiana Orme

Susana Carmona

Dena G Hernandez

Owen A Ross

John D Eicher

Claire Shepherd

Laura Parkkinen

Lee Darwent

Michael G Heckman

Sonja W Scholz

Juan C Troncoso

Olga Pletnikova

Olaf Ansorge

Jordi Clarimon

Alberto Lleo

Estrella Morenas-Rodriguez

Lorraine Clark

Lawrence S Honig

Karen Marder

Afina Lemstra

Ekaterina Rogaeva

Peter St. George-Hyslop

Elisabet Londos

Henrik Zetterberg

Imelda Barber

Anne Braae

Professor of Human Genomics and Molecular Genetics

Claire Troakes

Safa Al-Sarraj

Tammaryn Lashley

Janice Holton

Yaroslau Compta

Vivianna Van Deerlin

Geidy E Serrano

Thomas G Beach

Suzanne Lesage

Douglas Galasko

Eliezer Masliah

Isabel Santana

Pau Pastor

Monica Diez-Fairen

Miquel Aguilar

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

Stuart Pickering-Brown

David Mann

Glenda M Halliday

John Hardy

John Q Trojanowski

Dennis W Dickson

Andrew Singleton

David J Stone

Rita Guerreiro

Jose Bras


The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable, however data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole genome genotyping of 1,454 DLB cases and 1,525 controls to assess copy number variability. We used two algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified five CNV regions with a significant genome-wide association to DLB, two of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein; whilst the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting CNVs in genes previously associated with DLB or related neurodegenerative diseases, namely SNCA and
MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort.


Kun-Rodrigues, C., Orme, T., Carmona, S., Hernandez, D. G., Ross, O. A., Eicher, J. D., …Bras, J. (2019). A comprehensive screening of copy-number variability in dementia with Lewy bodies. Neurobiology of Aging, 75, 223.e1-223.e10.

Journal Article Type Article
Acceptance Date Oct 15, 2018
Online Publication Date Oct 24, 2018
Publication Date 2019-03
Deposit Date Nov 1, 2018
Publicly Available Date Oct 25, 2019
Journal Neurobiology of Aging
Print ISSN 0197-4580
Electronic ISSN 1558-1497
Publisher Elsevier
Peer Reviewed Peer Reviewed
Volume 75
Pages 223.e1-223.e10
Public URL
Publisher URL
Additional Information This article is maintained by: Elsevier; Article Title: A comprehensive screening of copy number variability in dementia with Lewy bodies; Journal Title: Neurobiology of Aging; CrossRef DOI link to publisher maintained version:; Content Type: article; Copyright: © 2019 Elsevier Inc. All rights reserved.


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