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

Neurobiol Aging. 2017 Jan:49:214.e13-214.e15. doi: 10.1016/j.neurobiolaging.2016.08.023. Epub 2016 Sep 2.


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.

Keywords: C9orf72; Dementia with Lewy bodies (DLB); Genetic screen.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Intramural

MeSH terms

  • C9orf72 Protein / genetics*
  • Cohort Studies
  • DNA Repeat Expansion / genetics*
  • Genetic Association Studies*
  • Humans
  • Lewy Body Disease / genetics*


  • C9orf72 Protein
  • C9orf72 protein, human