Clinical genetics of Alzheimer's disease

Biomed Res Int. 2014:2014:291862. doi: 10.1155/2014/291862. Epub 2014 May 13.

Abstract

Alzheimer's disease (AD) is the most common progressive neurodegenerative disease and the most common form of dementia in the elderly. It is a complex disorder with environmental and genetic components. There are two major types of AD, early onset and the more common late onset. The genetics of early-onset AD are largely understood with mutations in three different genes leading to the disease. In contrast, while susceptibility loci and alleles associated with late-onset AD have been identified using genetic association studies, the genetics of late-onset Alzheimer's disease are not fully understood. Here we review the known genetics of early- and late-onset AD, the clinical features of EOAD according to genotypes, and the clinical implications of the genetics of AD.

Publication types

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

MeSH terms

  • Age of Onset
  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Amyloid beta-Protein Precursor / genetics*
  • Dementia / genetics*
  • Dementia / pathology
  • Genetic Association Studies*
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Presenilin-1 / genetics
  • Presenilin-2 / genetics

Substances

  • Amyloid beta-Protein Precursor
  • PSEN1 protein, human
  • PSEN2 protein, human
  • Presenilin-1
  • Presenilin-2