This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on ISI (1)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Genetics, Other  • Alzheimer Disease  • Neurogenetics  • Neurology, Other  • Alert me on articles by topic

Case Report of an Apolipoprotein E 2/2 Genotype

Daniel J. Berlau, PhD; Kristin Kahle-Wrobleski, PhD; Elizabeth Head, PhD; Matthew Goodus, BA; Ronald Kim, MD; Claudia Kawas, MD

Arch Neurol. 2007;64(8):1193-1196.

Background  The apolipoprotein E (APOE) 2 allele has been suggested as having a protective effect and delaying the age at onset of Alzheimer disease.

Objective  To describe a dissociation between neuropathologic findings with normal cognition in a woman with severe Alzheimer disease with the APOE 2/2 genotype.

Design  Case report from a community-based prospective study of persons 90 years or older (The 90+ Study).

Participant  A 92-year-old woman without dementia with the APOE 2/2 genotype who lived independently without significant cognitive or functional loss and was a participant in The 90+ Study. She died in December 2004, and postmortem examination of her brain was performed.

Intervention  Neurologic examination and a battery of neuropsychological tests were performed 6 months and 1 month before death. Neuropathologic examination included Braak and Braak staging for senile plaques and neurofibrillary tangles.

Results  Neuropathologic examination of the brain revealed advanced senile plaque and neurofibrillary tangle disease consistent with a high likelihood of Alzheimer disease. At clinical evaluation, the participant demonstrated no dementia and only mild cognitive deficits.

Conclusions  The APOE genotype may have contributed to maintenance of cognition despite advanced neuropathologic findings of Alzheimer disease. This case suggests that the APOE 2 isoform may have a protective effect against cognitive decline in Alzheimer disease that may be independent from senile plaques and neurofibrillary tangles.

Author Affiliations: Institute of Brain Aging and Dementia (Drs Berlau, Kahle-Wrobleski, Head, and Kawas and Mr Goodus) and Departments of Neurology and Neurobiology and Behavior (Dr Kawas) and Pathology (Dr Kim), University of California, Irvine.