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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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Bradley F. Boeve, MD, Division of Behavioral Neurology, Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905 (firstname.lastname@example.org).
Published Online: January 14, 2021. doi:10.1001/jama.2020.15085
Author Contributions: Dr Choudhury and Dr Ramanan contributed equally to this article.
Conflict of Interest Disclosures: Dr Boeve reported grants from Biogen, Alector, EIP Pharma, and personal fees from Rainwater Charitable Foundation outside the submitted work. No other disclosures were reported.
Additional Contributions: We thank the patient for granting permission to publish this information.
Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:
It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.
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