Possible Alzheimer's disease in an apolipoprotein E2 homozygote

J Alzheimers Dis. 2009;16(1):35-8. doi: 10.3233/JAD-2009-0932.

Abstract

The objective of this study was to describe a case of Alzheimer's disease in an ApoE epsilon2/epsilon2 homozygote. ApoE epsilon2/epsilon2 is the rarest of the apolipoprotein E genotypes, representing only 1.4% of the population. There is only one case reported in the literature of a nonagenarian with minimal cognitive changes whose brain showed AD pathology on postmortem study. Here we report an 87-year-old ApoE epsilon2/epsilon2 female who meets clinical criteria for Alzheimer's disease, with confirmation from neuropsychological testing and PET scan. Clinical course is typical for Alzheimer's disease with decline on the Mini-Mental Status Examination from a score of 25 to 19 over 3.5 years. The patient is currently treated with donepezil and memantine. In conclusion, a clinically confirmed case of Alzheimer's disease is rare in Apo E2 homozygotes but can occur.

Publication types

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

MeSH terms

  • Aged, 80 and over
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / psychology
  • Apolipoproteins E / genetics*
  • Donepezil
  • Female
  • Homozygote*
  • Humans
  • Indans / therapeutic use
  • Magnetic Resonance Imaging
  • Memory
  • Neurologic Examination
  • Neuropsychological Tests
  • Nootropic Agents / therapeutic use
  • Piperidines / therapeutic use
  • Positron-Emission Tomography
  • Tomography, X-Ray Computed

Substances

  • Apolipoproteins E
  • Indans
  • Nootropic Agents
  • Piperidines
  • Donepezil