Genetic architecture of neurodegenerative dementias

Neuropharmacology. 2020 May 15;168:108014. doi: 10.1016/j.neuropharm.2020.108014. Epub 2020 Feb 17.


Molecular genetics has been an invaluable tool to help understand the molecular basis of neurodegenerative dementias. In this review, we provide an overview of the genetic architecture underlying some of the most prevalent causes of dementia, including Alzheimer's dementia, frontotemporal lobar degeneration, Lewy body dementia, and prion diseases. We also discuss the complexity of the human genome and how the novel technologies have revolutionized and accelerated the way we screen the variety of our DNA. Finally, we also provide some examples about how this genetic knowledge is being transferred into the clinic through personalized medicine. This article is part of the special issue entitled 'The Quest for Disease-Modifying Therapies for Neurodegenerative Disorders'.

Keywords: Alzheimer's disease; Frontotemporal dementia; Genetics; Lewy body; Prion; Review.

Publication types

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

MeSH terms

  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Animals
  • Dementia / diagnosis
  • Dementia / genetics
  • Frontotemporal Lobar Degeneration / diagnosis
  • Frontotemporal Lobar Degeneration / genetics*
  • Genetic Testing / methods
  • Genetic Testing / trends
  • Humans
  • Lewy Body Disease / diagnosis
  • Lewy Body Disease / genetics*
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / genetics
  • Pharmacogenetics / methods*
  • Pharmacogenetics / trends
  • Prion Diseases / diagnosis
  • Prion Diseases / genetics*