FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations

Transl Psychiatry. 2019 Jan 31;9(1):54. doi: 10.1038/s41398-019-0381-1.

Abstract

C9ORF72 mutations are the most common cause of familial frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). MRI studies have investigated structural changes in C9ORF72-associated FTLD (C9FTLD) and provided first insights about a prominent involvement of the thalamus and the cerebellum. Our multicenter, 18F-fluorodeoxyglucose positron-emission tomography study of 22 mutation carriers with FTLD, 22 matched non-carriers with FTLD, and 23 cognitively healthy controls provided valuable insights into functional changes in C9FTLD: compared to non-carriers, mutation carriers showed a significant reduction of glucose metabolism in both thalami, underscoring the key role of the thalamus in C9FTLD. Thalamic metabolism did not correlate with disease severity, duration of disease, or the presence of psychotic symptoms. Against our expectations we could not demonstrate a cerebellar hypometabolism in carriers or non-carriers. Future imaging and neuropathological studies in large patient cohorts are required to further elucidate the central role of the thalamus in C9FTLD.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • C9orf72 Protein / genetics*
  • Cerebellum / diagnostic imaging
  • Cerebellum / metabolism
  • Female
  • Fluorodeoxyglucose F18
  • Frontotemporal Lobar Degeneration / diagnostic imaging
  • Frontotemporal Lobar Degeneration / genetics*
  • Frontotemporal Lobar Degeneration / metabolism*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Positron-Emission Tomography
  • Sensitivity and Specificity
  • Thalamus / diagnostic imaging
  • Thalamus / metabolism*

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Fluorodeoxyglucose F18