Integrating functional genomics with genetics to understand the biology of ALS and FTD

Med. 2022 Apr 8;3(4):226-227. doi: 10.1016/j.medj.2022.03.008.


Genetic variants in chromosome 19 are strongly associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Ma et al.1 and Brown et al.2 demonstrated that this association was driven by variation in UNC13A and that the underlying mechanism involved aberrant TDP-43 localization, a known pathological hallmark of both diseases.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis* / genetics
  • Frontotemporal Dementia* / genetics
  • Genomics
  • Humans
  • Pick Disease of the Brain*