Probable early-onset Alzheimer's disease in an apolipoprotein E2 homozygote

Dement Geriatr Cogn Disord. 2010;30(5):387-91. doi: 10.1159/000320589. Epub 2010 Oct 23.

Abstract

Objective: To describe a case of early-onset Alzheimer's disease (AD) in an apolipoprotein (Apo) ε2/ε2 homozygote.

Background: Apo ε2/ε2 is the rarest of the ApoE genotypes, representing only 1.4% of the population. Cognitive decline in ApoE ε2 homozygotes has rarely been reported.

Case report/methods: We report a 58-year-old Apo ε2/ε2 female who meets clinical criteria for probable AD as confirmed by neuropsychological testing, positron emission/computed tomography scan, CSF analysis and genetic screening for known mutations.

Results: The clinical course is typical of AD, with progressive cognitive and functional decline.

Conclusion: Clinically confirmed early-onset AD is atypical in ApoE2 homozygotes but can occur.

Publication types

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

MeSH terms

  • Age of Onset
  • Alzheimer Disease / diagnostic imaging
  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / cerebrospinal fluid
  • Apolipoprotein E2 / genetics*
  • Cognition / physiology
  • DNA Mutational Analysis
  • Female
  • Homozygote
  • Humans
  • Memory / physiology
  • Middle Aged
  • Neuropsychological Tests
  • Positron-Emission Tomography
  • Tomography, X-Ray Computed
  • tau Proteins / cerebrospinal fluid

Substances

  • Amyloid beta-Peptides
  • Apolipoprotein E2
  • tau Proteins