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 (ALS) and frontotemporal dementia (FTD). To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken in order to assess the role of C9orf72 repeat expansions in the disease. Here we investigated th...

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Main Authors:	Kun-Rodrigues, Celia, Ross, Owen A., Orme, Tatiana, Shepherd, Claire, Parkkinen, Laura, Darwent, Lee, Hernandez, Dena, Ansorge, Olaf, Clark, Lorraine N., Honig, Lawrence, Marder, Karen, Lemstra, Afina, Scheltens, Philip, Flier, Wiesje van der, Louwersheimer, Eva, Holstege, Henne, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Barber, Imelda S., Braae, Anne, Brown, Kristelle, Morgan, Kevin, Maetzler, Walter, Berg, Daniela, Troakes, C., Al-Sarraj, S., Lashley, Tammaryn, Holton, Janice, Compta, Yaroslau, Van Deerlin, Vivianna, Trojanowski, John Q., Serrano, Geidy E., Beach, Thomas G., Clarimon, Jordi, Lleo, Alberto, Morenas-Rodriguez, Estrella, Lesage, Suzanne, Galasko, Douglas, Masliah, Eliezer, Santana, Isabel, Diez, Monica, Pastor, Pau, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Revesz, Tamas, Lees, Andrew, Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., Escott-Price, Valentina, Graff-Radford, Neill R., Cairns, Nigel, Morris, John C., Stone, David, Pickering-Brown, Stuart, Mann, David, Dickson, Dennis W., Halliday, Glenda M., Singleton, Andrew, Guerreiro, Rita, Bras, Jose
Format:	Article
Published:	Elsevier 2016
Subjects:	C9orf72; Dementia with Lewy Bodies (DLB); Genetic screen
Online Access:	https://eprints.nottingham.ac.uk/36285/

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author	Kun-Rodrigues, Celia Ross, Owen A. Orme, Tatiana Shepherd, Claire Parkkinen, Laura Darwent, Lee Hernandez, Dena Ansorge, Olaf Clark, Lorraine N. Honig, Lawrence Marder, Karen Lemstra, Afina Scheltens, Philip Flier, Wiesje van der Louwersheimer, Eva Holstege, Henne Rogaeva, Ekaterina St. George-Hyslop, Peter Londos, Elisabet Zetterberg, Henrik Barber, Imelda S. Braae, Anne Brown, Kristelle Morgan, Kevin Maetzler, Walter Berg, Daniela Troakes, C. Al-Sarraj, S. Lashley, Tammaryn Holton, Janice Compta, Yaroslau Van Deerlin, Vivianna Trojanowski, John Q. Serrano, Geidy E. Beach, Thomas G. Clarimon, Jordi Lleo, Alberto Morenas-Rodriguez, Estrella Lesage, Suzanne Galasko, Douglas Masliah, Eliezer Santana, Isabel Diez, Monica Pastor, Pau Tienari, Pentti J. Myllykangas, Liisa Oinas, Minna Revesz, Tamas Lees, Andrew Boeve, Bradley F. Petersen, Ronald C. Ferman, Tanis J. Escott-Price, Valentina Graff-Radford, Neill R. Cairns, Nigel Morris, John C. Stone, David Pickering-Brown, Stuart Mann, David Dickson, Dennis W. Halliday, Glenda M. Singleton, Andrew Guerreiro, Rita Bras, Jose
author_facet	Kun-Rodrigues, Celia Ross, Owen A. Orme, Tatiana Shepherd, Claire Parkkinen, Laura Darwent, Lee Hernandez, Dena Ansorge, Olaf Clark, Lorraine N. Honig, Lawrence Marder, Karen Lemstra, Afina Scheltens, Philip Flier, Wiesje van der Louwersheimer, Eva Holstege, Henne Rogaeva, Ekaterina St. George-Hyslop, Peter Londos, Elisabet Zetterberg, Henrik Barber, Imelda S. Braae, Anne Brown, Kristelle Morgan, Kevin Maetzler, Walter Berg, Daniela Troakes, C. Al-Sarraj, S. Lashley, Tammaryn Holton, Janice Compta, Yaroslau Van Deerlin, Vivianna Trojanowski, John Q. Serrano, Geidy E. Beach, Thomas G. Clarimon, Jordi Lleo, Alberto Morenas-Rodriguez, Estrella Lesage, Suzanne Galasko, Douglas Masliah, Eliezer Santana, Isabel Diez, Monica Pastor, Pau Tienari, Pentti J. Myllykangas, Liisa Oinas, Minna Revesz, Tamas Lees, Andrew Boeve, Bradley F. Petersen, Ronald C. Ferman, Tanis J. Escott-Price, Valentina Graff-Radford, Neill R. Cairns, Nigel Morris, John C. Stone, David Pickering-Brown, Stuart Mann, David Dickson, Dennis W. Halliday, Glenda M. Singleton, Andrew Guerreiro, Rita Bras, Jose
author_sort	Kun-Rodrigues, Celia
building	Nottingham Research Data Repository
collection	Online Access
description	C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken in order 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.
first_indexed	2025-11-14T19:29:13Z
format	Article
id	nottingham-36285
institution	University of Nottingham Malaysia Campus
institution_category	Local University
last_indexed	2025-11-14T19:29:13Z
publishDate	2016
publisher	Elsevier
recordtype	eprints
repository_type	Digital Repository
spelling	nottingham-362852020-05-04T18:13:52Z https://eprints.nottingham.ac.uk/36285/ Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies Kun-Rodrigues, Celia Ross, Owen A. Orme, Tatiana Shepherd, Claire Parkkinen, Laura Darwent, Lee Hernandez, Dena Ansorge, Olaf Clark, Lorraine N. Honig, Lawrence Marder, Karen Lemstra, Afina Scheltens, Philip Flier, Wiesje van der Louwersheimer, Eva Holstege, Henne Rogaeva, Ekaterina St. George-Hyslop, Peter Londos, Elisabet Zetterberg, Henrik Barber, Imelda S. Braae, Anne Brown, Kristelle Morgan, Kevin Maetzler, Walter Berg, Daniela Troakes, C. Al-Sarraj, S. Lashley, Tammaryn Holton, Janice Compta, Yaroslau Van Deerlin, Vivianna Trojanowski, John Q. Serrano, Geidy E. Beach, Thomas G. Clarimon, Jordi Lleo, Alberto Morenas-Rodriguez, Estrella Lesage, Suzanne Galasko, Douglas Masliah, Eliezer Santana, Isabel Diez, Monica Pastor, Pau Tienari, Pentti J. Myllykangas, Liisa Oinas, Minna Revesz, Tamas Lees, Andrew Boeve, Bradley F. Petersen, Ronald C. Ferman, Tanis J. Escott-Price, Valentina Graff-Radford, Neill R. Cairns, Nigel Morris, John C. Stone, David Pickering-Brown, Stuart Mann, David Dickson, Dennis W. Halliday, Glenda M. Singleton, Andrew Guerreiro, Rita Bras, Jose C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken in order 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. Elsevier 2016-09-02 Article PeerReviewed Kun-Rodrigues, Celia, Ross, Owen A., Orme, Tatiana, Shepherd, Claire, Parkkinen, Laura, Darwent, Lee, Hernandez, Dena, Ansorge, Olaf, Clark, Lorraine N., Honig, Lawrence, Marder, Karen, Lemstra, Afina, Scheltens, Philip, Flier, Wiesje van der, Louwersheimer, Eva, Holstege, Henne, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Londos, Elisabet, Zetterberg, Henrik, Barber, Imelda S., Braae, Anne, Brown, Kristelle, Morgan, Kevin, Maetzler, Walter, Berg, Daniela, Troakes, C., Al-Sarraj, S., Lashley, Tammaryn, Holton, Janice, Compta, Yaroslau, Van Deerlin, Vivianna, Trojanowski, John Q., Serrano, Geidy E., Beach, Thomas G., Clarimon, Jordi, Lleo, Alberto, Morenas-Rodriguez, Estrella, Lesage, Suzanne, Galasko, Douglas, Masliah, Eliezer, Santana, Isabel, Diez, Monica, Pastor, Pau, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Revesz, Tamas, Lees, Andrew, Boeve, Bradley F., Petersen, Ronald C., Ferman, Tanis J., Escott-Price, Valentina, Graff-Radford, Neill R., Cairns, Nigel, Morris, John C., Stone, David, Pickering-Brown, Stuart, Mann, David, Dickson, Dennis W., Halliday, Glenda M., Singleton, Andrew, Guerreiro, Rita and Bras, Jose (2016) Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies. Neurobiology of Aging . ISSN 1558-1497 C9orf72; Dementia with Lewy Bodies (DLB); Genetic screen http://www.sciencedirect.com/science/article/pii/S0197458016302019 doi:10.1016/j.neurobiolaging.2016.08.023 doi:10.1016/j.neurobiolaging.2016.08.023
spellingShingle	C9orf72; Dementia with Lewy Bodies (DLB); Genetic screen Kun-Rodrigues, Celia Ross, Owen A. Orme, Tatiana Shepherd, Claire Parkkinen, Laura Darwent, Lee Hernandez, Dena Ansorge, Olaf Clark, Lorraine N. Honig, Lawrence Marder, Karen Lemstra, Afina Scheltens, Philip Flier, Wiesje van der Louwersheimer, Eva Holstege, Henne Rogaeva, Ekaterina St. George-Hyslop, Peter Londos, Elisabet Zetterberg, Henrik Barber, Imelda S. Braae, Anne Brown, Kristelle Morgan, Kevin Maetzler, Walter Berg, Daniela Troakes, C. Al-Sarraj, S. Lashley, Tammaryn Holton, Janice Compta, Yaroslau Van Deerlin, Vivianna Trojanowski, John Q. Serrano, Geidy E. Beach, Thomas G. Clarimon, Jordi Lleo, Alberto Morenas-Rodriguez, Estrella Lesage, Suzanne Galasko, Douglas Masliah, Eliezer Santana, Isabel Diez, Monica Pastor, Pau Tienari, Pentti J. Myllykangas, Liisa Oinas, Minna Revesz, Tamas Lees, Andrew Boeve, Bradley F. Petersen, Ronald C. Ferman, Tanis J. Escott-Price, Valentina Graff-Radford, Neill R. Cairns, Nigel Morris, John C. Stone, David Pickering-Brown, Stuart Mann, David Dickson, Dennis W. Halliday, Glenda M. Singleton, Andrew Guerreiro, Rita Bras, Jose Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies
title	Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies
title_full	Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies
title_fullStr	Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies
title_full_unstemmed	Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies
title_short	Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies
title_sort	analysis of c9orf72 repeat expansions in a large international cohort of dementia with lewy bodies
topic	C9orf72; Dementia with Lewy Bodies (DLB); Genetic screen
url	https://eprints.nottingham.ac.uk/36285/ https://eprints.nottingham.ac.uk/36285/ https://eprints.nottingham.ac.uk/36285/

Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies

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