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

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; Elisabet Londos; 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 Cairns; John C. Morris; David Stone; Stuart Pickering-Brown; David Mann; Dennis W. Dickson; Glenda M. Halliday; Andrew Singleton; Rita Guerreiro; Jose Bras

doi:10.1016/j.neurobiolaging.2016.08.023

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

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, Elisabet Londos, Henrik ZetterbergImelda 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 Cairns, John C. Morris, David Stone, Stuart Pickering-Brown, David Mann, Dennis W. Dickson, Glenda M. Halliday, Andrew Singleton, Rita Guerreiro, Jose Bras

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Abstract

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.

Original language	English
Pages (from-to)	214.e13–214.e15
Journal	Neurobiology of Aging
Volume	49
Early online date	2 Sept 2016
DOIs	https://doi.org/10.1016/j.neurobiolaging.2016.08.023
Publication status	Published - Jan 2017

Keywords

C9orf72
Dementia with Lewy Bodies (DLB)
genetic screen

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Analysis of C9orf72 repeat_KUN-RODRIGUES_Accepted25August2016_GREEN AAMAccepted author manuscript, 244 KB

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Kun-Rodrigues, C., Ross, O. A., Orme, T., Shepherd, C., Parkkinen, L., Darwent, L., Hernandez, D., Ansorge, O., Clark, L. N., Honig, L. S., Marder, K., Lemstra, A., Scheltens, P., van der Flier, W., Louwersheimer, E., Holstege, H., Rogaeva, E., St. George-Hyslop, P., Londos, E., ... Bras, J. (2017). Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies. Neurobiology of Aging, 49, 214.e13–214.e15. https://doi.org/10.1016/j.neurobiolaging.2016.08.023

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title = "Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies",

abstract = "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.",

keywords = "C9orf72, Dementia with Lewy Bodies (DLB), genetic screen",

author = "Celia Kun-Rodrigues and Ross, {Owen A.} and Tatiana Orme and Claire Shepherd and Laura Parkkinen and Lee Darwent and Dena Hernandez and Olaf Ansorge and Clark, {Lorraine N.} and Honig, {Lawrence S.} and Karen Marder and Afina Lemstra and Philippe Scheltens and {van der Flier}, Wiesje and Eva Louwersheimer and Henne Holstege and Ekaterina Rogaeva and {St. George-Hyslop}, Peter and Elisabet Londos and Henrik Zetterberg and Imelda Barber and Anne Braae and Kristelle Brown and Kevin Morgan and Walter Maetzler and Daniela Berg and Claire Troakes and Safa Al-Sarraj and Tammaryn Lashley and Janice Holton and Yaroslau Compta and {Van Deerlin}, Vivianna and Trojanowski, {John Q.} and Serrano, {Geidy E.} and Beach, {Thomas G.} and Jordi Clarimon and Alberto Lle{\'o} and Estrella Morenas-Rodr{\'i}guez and Suzanne Lesage and Douglas Galasko and Eliezer Masliah and Isabel Santana and Monica Diez and Pau Pastor and Tienari, {Pentti J.} and Liisa Myllykangas and Minna Oinas and Tamas Revesz and Andrew Lees and Boeve, {Brad F.} and Petersen, {Ronald C.} and Ferman, {Tanis J.} and Valentina Escott-Price and Neill Graff-Radford and Nigel Cairns and Morris, {John C.} and David Stone and Stuart Pickering-Brown and David Mann and Dickson, {Dennis W.} and Halliday, {Glenda M.} and Andrew Singleton and Rita Guerreiro and Jose Bras",

year = "2017",

month = jan,

doi = "10.1016/j.neurobiolaging.2016.08.023",

language = "English",

volume = "49",

pages = "214.e13–214.e15",

journal = "Neurobiology of Aging",

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Kun-Rodrigues, C, Ross, OA, Orme, T, Shepherd, C, Parkkinen, L, Darwent, L, Hernandez, D, Ansorge, O, Clark, LN, Honig, LS, Marder, K, Lemstra, A, Scheltens, P, van der Flier, W, Louwersheimer, E, Holstege, H, Rogaeva, E, St. George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C , Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, Van Deerlin, V, Trojanowski, JQ, Serrano, GE, Beach, TG, Clarimon, J, Lleó, A, Morenas-Rodríguez, E, Lesage, S, Galasko, D, Masliah, E, Santana, I, Diez, M, Pastor, P, Tienari, PJ, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, BF, Petersen, RC, Ferman, TJ, Escott-Price, V, Graff-Radford, N, Cairns, N, Morris, JC, Stone, D, Pickering-Brown, S, Mann, D, Dickson, DW, Halliday, GM, Singleton, A, Guerreiro, R & Bras, J 2017, 'Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies', Neurobiology of Aging, vol. 49, pp. 214.e13–214.e15. https://doi.org/10.1016/j.neurobiolaging.2016.08.023

TY - JOUR

T1 - Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies

AU - Kun-Rodrigues, Celia

AU - Ross, Owen A.

AU - Orme, Tatiana

AU - Shepherd, Claire

AU - Parkkinen, Laura

AU - Darwent, Lee

AU - Hernandez, Dena

AU - Ansorge, Olaf

AU - Clark, Lorraine N.

AU - Honig, Lawrence S.

AU - Marder, Karen

AU - Lemstra, Afina

AU - Scheltens, Philippe

AU - van der Flier, Wiesje

AU - Louwersheimer, Eva

AU - Holstege, Henne

AU - Rogaeva, Ekaterina

AU - St. George-Hyslop, Peter

AU - Londos, Elisabet

AU - Zetterberg, Henrik

AU - Barber, Imelda

AU - Braae, Anne

AU - Brown, Kristelle

AU - Morgan, Kevin

AU - Maetzler, Walter

AU - Berg, Daniela

AU - Troakes, Claire

AU - Al-Sarraj, Safa

AU - Lashley, Tammaryn

AU - Holton, Janice

AU - Compta, Yaroslau

AU - Van Deerlin, Vivianna

AU - Trojanowski, John Q.

AU - Serrano, Geidy E.

AU - Beach, Thomas G.

AU - Clarimon, Jordi

AU - Lleó, Alberto

AU - Morenas-Rodríguez, Estrella

AU - Lesage, Suzanne

AU - Galasko, Douglas

AU - Masliah, Eliezer

AU - Santana, Isabel

AU - Diez, Monica

AU - Pastor, Pau

AU - Tienari, Pentti J.

AU - Myllykangas, Liisa

AU - Oinas, Minna

AU - Revesz, Tamas

AU - Lees, Andrew

AU - Boeve, Brad F.

AU - Petersen, Ronald C.

AU - Ferman, Tanis J.

AU - Escott-Price, Valentina

AU - Graff-Radford, Neill

AU - Cairns, Nigel

AU - Morris, John C.

AU - Stone, David

AU - Pickering-Brown, Stuart

AU - Mann, David

AU - Dickson, Dennis W.

AU - Halliday, Glenda M.

AU - Singleton, Andrew

AU - Guerreiro, Rita

AU - Bras, Jose

PY - 2017/1

Y1 - 2017/1

N2 - 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.

AB - 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.

KW - C9orf72

KW - Dementia with Lewy Bodies (DLB)

KW - genetic screen

U2 - 10.1016/j.neurobiolaging.2016.08.023

DO - 10.1016/j.neurobiolaging.2016.08.023

M3 - Article

SN - 0197-4580

VL - 49

SP - 214.e13–214.e15

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

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

Abstract

Keywords

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