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Elsevier, Neurobiology of Aging, (49), p. 214.e13-214.e15, 2017

DOI: 10.1016/j.neurobiolaging.2016.08.023

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Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies

Journal article published in 2016 by 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 and other authors.
This paper is available in a repository.
This paper is available in a repository.

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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.