4.5 Article

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

Journal

NEUROBIOLOGY OF AGING
Volume 49, Issue -, Pages -

Publisher

ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2016.08.023

Keywords

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

Funding

  1. National Institutes of Neurological Disease and Stroke
  2. Alzheimer's Society
  3. Lewy Body Society
  4. Neuroscience Research Australia
  5. University of New South Wales
  6. Wellcome Trust
  7. Medical Research Council
  8. Canadian Institutes of Health Research
  9. Ontario Research Fund
  10. ARUK
  11. Big Lottery Fund
  12. Taub Institute
  13. Panasci Fund
  14. Parkinson's Disease Foundation
  15. NIH [NS060113, P50AG008702, P50NS038370, UL1TR000040, AG05131]
  16. Michael J. Fox Foundation for Parkinson's Research, NINDS R01 [NS078086]
  17. Little Family Foundation [NS072187]
  18. Mangurian Foundation Program for Lewy Body Dementia research
  19. Alzheimer Disease Research Center [P50 AG016547]
  20. National Institute on Aging [P50 AG016574, U01 AG006786]
  21. Queen Square Brain Bank at the UCL Institute of Neurology
  22. Brains for Dementia Research project (Alzheimer's Society)
  23. Brains for Dementia Research project (ARUK)
  24. NIHR UCLH Biomedical Research Centre
  25. Queen Square Dementia Biomedical Research Unit
  26. Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services [AG000951-12]
  27. Penn Alzheimer's Disease Core Center [AG10124]
  28. Penn Morris K. Udall Parkinson's Disease Research Center [NS053488]
  29. French program Investissements d'avenir [ANR-10-IAIHU-06]
  30. Helsinki University Central Hospital
  31. Folkhalsan Research Foundation
  32. Finnish Academy
  33. Canadian Consortium on Neurodegeneration in Aging (ER)
  34. ARUK senior fellowship
  35. MRC [G1100695, MR/L023784/2, G0900652, G0502157, G0400074, MR/L016397/1, UKDRI-3003, MR/P005748/1, G1100540] Funding Source: UKRI
  36. Medical Research Council [G0502157, MR/L010305/1, G0400074, MR/L023784/2, UKDRI-3003, G1100695, MR/P005748/1, MR/L016397/1, G1100540, G0900652] Funding Source: researchfish
  37. Parkinson's UK [J-1403] Funding Source: researchfish

Ask authors/readers for more resources

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. (C) 2016 Elsevier Inc. All rights reserved.

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