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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.

Original publication

DOI

10.1016/j.neurobiolaging.2016.08.023

Type

Journal article

Journal

Neurobiol Aging

Publication Date

01/2017

Volume

49

Pages

214.e13 - 214.e15

Keywords

C9orf72, Dementia with Lewy bodies (DLB), Genetic screen