The genetics of dementia with Lewy bodies: what are we missing?

Arch Neurol. 2012 Sep;69(9):1113-8. doi: 10.1001/archneurol.2011.3678.


Dementia with Lewy bodies is a complex brain disorder and a key member of the Lewy body disease spectrum. Its genetic etiology is unclear, and information is scattered. However, the results of molecular genetic studies imply a genetic and mechanistic overlap with Alzheimer disease, Parkinson disease with dementia, and Parkinson disease. In this review, we provide a comprehensive overview of the current studies on dementia with Lewy bodies heritability, genetic etiology, and genetic heterogeneity. We conclude with a critical discussion of the missing heritability in dementia with Lewy bodies and encourage scientists to further explore the underlying mechanisms of this disease.

Publication types

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

MeSH terms

  • Amyloid beta-Protein Precursor / genetics
  • Amyloid beta-Protein Precursor / metabolism
  • Brain / metabolism
  • Brain / pathology
  • Humans
  • Lewy Bodies / genetics*
  • Lewy Bodies / metabolism
  • Lewy Bodies / pathology
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / metabolism
  • Lewy Body Disease / pathology
  • Presenilins / genetics
  • Presenilins / metabolism
  • alpha-Synuclein / genetics
  • alpha-Synuclein / metabolism


  • Amyloid beta-Protein Precursor
  • Presenilins
  • alpha-Synuclein