Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis

Neurobiol Dis. 2020 Nov;145:105063. doi: 10.1016/j.nbd.2020.105063. Epub 2020 Sep 2.


Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have a strong clinical, genetic and pathological overlap. This review focuses on the current understanding of structural, functional and molecular neuroimaging signatures of genetic FTD and ALS. We overview quantitative neuroimaging studies on the most common genes associated with FTD (MAPT, GRN), ALS (SOD1), and both (C9orf72), and summarize visual observations of images reported in the rarer genes (CHMP2B, TARDBP, FUS, OPTN, VCP, UBQLN2, SQSTM1, TREM2, CHCHD10, TBK1).

Keywords: Amyotrophic lateral sclerosis; Frontotemporal dementia; Genetics; Motor neuron disease; Neuroimaging; Presymptomatic.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / diagnostic imaging*
  • Amyotrophic Lateral Sclerosis / genetics
  • Frontotemporal Dementia / diagnostic imaging*
  • Frontotemporal Dementia / genetics
  • Humans
  • Neuroimaging / methods*