University of Oklahoma Health Sciences Center

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Author/s:

Choudhury, Parichita, Boeve, Bradley F., Ramanan, Vijay K

Date Added:

January 16, 2021

Journal/Publication:

Journal of the American Medical Association

Publisher:

Journal of the American Medical Association

Publication Date:

January 14, 2021

URL:

APOE ɛ4 Allele Testing and Risk of Alzheimer Disease

Type:

Clinical Decision Aids

Format:

Article

DOI (1):

doi:10.1001/jama.2020.15085

Keywords

dementia

Alzheimer Disease

Genetic testing

MeSH

alzheimer disease

genetic testing

RPR Commentary

A brief review of the interpretation of APOE tests for diagnosing and predicting dementia of the Alzheimer’s type. James W. Mold, MD, MPH

Abstract

A 64-year-old man presented with concern about an abnormal genetic test result for apolipoprotein E (APOE) obtained through his primary care physician. He reported forgetfulness and word-finding difficulties for 3 years but performed all activities of daily living independently and was generally healthy. His father and maternal great aunt developed dementia in their 70s. Physical (including neurologic) examination, basic laboratory studies, and brain magnetic resonance imaging results were normal. The Short Test of Mental Status (STMS) score was 33 (maximal attainable score of 38 indicates best performance). Neuropsychological assessment showed average to above-average performance in all cognitive domains, accounting for age and education. Results of his genetic testing for APOE were reported as follows: “This individual possesses an apolipoprotein E genotype (3 and 4) that indicates, with high specificity, that Alzheimer’s disease is the cause of or a contributor to the observed dementia.

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