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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. and Honig, Lawrence S., et al. (2017) In Neurobiology of Aging 49.
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.

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publication status
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subject
keywords
C9orf72, Dementia with Lewy bodies (DLB), Genetic screen
in
Neurobiology of Aging
volume
49
publisher
Elsevier
external identifiers
  • scopus:84995602250
  • wos:000393977700022
ISSN
0197-4580
DOI
10.1016/j.neurobiolaging.2016.08.023
language
English
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yes
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97a0357d-2984-47ae-aeb2-083db41a2f8a
date added to LUP
2016-12-05 13:51:47
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2018-01-07 11:39:01
@article{97a0357d-2984-47ae-aeb2-083db41a2f8a,
  abstract     = {<p>. 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.</p>},
  articleno    = {214.e13-214.e15},
  author       = {Kun-Rodrigues, Celia and Ross, Owen A. and Orme, Tatiana and Shepherd, Claire and Parkkinen, Laura and Darwent, Lee and Hernandez, Dena and Ansorge, Olaf and Clark, Lorraine N. and Honig, Lawrence S. and Marder, Karen and Lemstra, Afina and Scheltens, Philippe and van der Flier, Wiesje and Louwersheimer, Eva and Holstege, Henne and Rogaeva, Ekaterina and St. George-Hyslop, Peter and Londos, Elisabet and Zetterberg, Henrik and Barber, Imelda and Braae, Anne and Brown, Kristelle and Morgan, Kevin and Maetzler, Walter and Berg, Daniela and Troakes, Claire and Al-Sarraj, Safa and Lashley, Tammaryn and Holton, Janice and Compta, Yaroslau and Van Deerlin, Vivianna and Trojanowski, John Q. and Serrano, Geidy E. and Beach, Thomas G. and Clarimon, Jordi and Lleó, Alberto and Morenas-Rodríguez, Estrella and Lesage, Suzanne and Galasko, Douglas and Masliah, Eliezer and Santana, Isabel and Diez, Monica and Pastor, Pau and Tienari, Pentti J. and Myllykangas, Liisa and Oinas, Minna and Revesz, Tamas and Lees, Andrew and Boeve, Brad F. and Petersen, Ronald C. and Ferman, Tanis J. and Escott-Price, Valentina and Graff-Radford, Neill and Cairns, Nigel J. and Morris, John C. and Stone, David J. and Pickering-Brown, Stuart and Mann, David and Dickson, Dennis W. and Halliday, Glenda M. and Singleton, Andrew and Guerreiro, Rita and Bras, Jose},
  issn         = {0197-4580},
  keyword      = {C9orf72,Dementia with Lewy bodies (DLB),Genetic screen},
  language     = {eng},
  publisher    = {Elsevier},
  series       = {Neurobiology of Aging},
  title        = {Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies},
  url          = {http://dx.doi.org/10.1016/j.neurobiolaging.2016.08.023},
  volume       = {49},
  year         = {2017},
}