Prevalence of immunological diseases in a Finnish frontotemporal lobar degeneration cohort with the C9orf72 repeat expansion carriers and non-carriers

J Neuroimmunol. 2018 Aug 15;321:29-35. doi: 10.1016/j.jneuroim.2018.05.011. Epub 2018 May 22.


Recent studies have suggested a role for immune dysregulation behind the etiology of frontotemporal lobar degeneration (FTLD). Here, we have investigated the prevalence of immunological diseases in FTLD (N = 196) with and without the C9orf72 repeat expansion, Alzheimer's disease (AD) (N = 193) and not cognitively impaired (NCI) subjects (N = 92). The prevalence was 16.3% in FTLD, 13.5% in AD and 15.2% in NCI. Although differences between the groups did not reach statistical significance, the frequency of immunological diseases was the highest in FTLD without the C9orf72 expansion (22/117, 18.8%) and the lowest in FTLD with the expansion (6/56, 10.7%), suggesting that the C9orf72 expansion possibly influences immunological pathways in FTLD.

Keywords: C9orf72; Comorbidity; Frontotemporal dementia; Frontotemporal lobar degeneration; Immunological disease; Immunology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • C9orf72 Protein / genetics*
  • Cohort Studies
  • Female
  • Finland / epidemiology
  • Frontotemporal Lobar Degeneration / epidemiology*
  • Frontotemporal Lobar Degeneration / genetics*
  • Frontotemporal Lobar Degeneration / immunology
  • Heterozygote*
  • Humans
  • Immune System Diseases / epidemiology*
  • Immune System Diseases / genetics*
  • Immune System Diseases / immunology
  • Male
  • Middle Aged
  • Prevalence
  • Retrospective Studies


  • C9orf72 Protein
  • C9orf72 protein, human