Possible Alzheimer's disease in an apolipoprotein E2 homozygote.

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.

• Authors: Ignat Ignatov, Christine Belden, Sandra Jacobson, Donald Connor, Marwan N Sabbagh
• Journal: Journal of Alzheimer's disease : JAD (J Alzheimers Dis) Vol. 16 Issue 1 Pg. 35-8 ( 2009) ISSN: 1387-2877 [Print] Netherlands
• PMID: 19158419 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• Aged, 80 and over
• Alzheimer Disease (diagnosis, genetics, 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