- Kun-Rodrigues, Celia, et al.
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
Ingår i: Neurobiology of Aging. - : Elsevier. - 0197-4580 .- 01974-580 .- 1558-1497. ; 49
- . 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.