Genetics of dementia

Acta Neurol Scand Suppl. 2010:(190):58-61. doi: 10.1111/j.1600-0404.2010.01377.x.

Abstract

Dementia is a syndrome and not a single disease. Approximately 0.5% of those with Alzheimer's disease have an autosomal dominant inherited early onset Alzheimer's disease, caused by mutations in the APP, PSEN1 or PSEN2 gene. A large population-based twin study of late onset Alzheimer's disease supports complex inheritance. The APOE epsilon4 allele is a major risk factor for late onset Alzheimer's disease, whereas the epsilon2 allele has a protective effect. Two large size genome-wide association studies from two Internationals study groups recently identified the genes CLU, PICALM and CRI to be important for late onset Alzheimer's disease. Stroke is like dementia a syndrome and not a single disease. CADASIL is the most common autosomal dominant inherited cause of stroke and vascular dementia. CADASIL is caused by mutations in the NOTCH3 gene, which encodes a single-pass transmembrane receptor. Stroke can cause dementia, as it is the stroke itself rather than the underlying vascular risk factors that cause the dementia.

Publication types

  • Review

MeSH terms

  • Brain Chemistry / genetics
  • CADASIL / genetics
  • Dementia / diagnosis
  • Dementia / genetics*
  • Dementia / metabolism*
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study / methods
  • Humans
  • Inheritance Patterns / genetics
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Stroke / genetics

Substances

  • Nerve Tissue Proteins