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Genetic Testing for Early-Onset Alzheimer Disease

Tsao, Jack W. MD, DPhil, FAAN

CONTINUUM: Lifelong Learning in Neurology: April 2013 - Volume 19 - Issue 2, Dementia - p 475–479
doi: 10.1212/01.CON.0000429170.50686.4e
Practice Issues

ABSTRACT The availability of testing for identified risk genes for Alzheimer disease (AD) in patients with clinically probable AD or their at-risk family members raises important questions for the neurologist. Because the potential benefits and risks of testing vary for each patient, physicians need to evaluate whether it is appropriate on a case-by-case basis. This article outlines the testing decision process and serves as a guide to assist clinicians with associated counseling and result disclosure. Because genetic testing is relatively new and preventive and therapeutic options for AD remain limited, it is important to remain sensitive to and understand the specific challenges associated with obtaining these tests in the routine clinical setting.

Address correspondence to Dr Jack W. Tsao, Department of Neurology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Room A1036, Bethesda, MD 20814,

Relationship Disclosure: Dr Tsao holds stock in Illumina and Biogen.

Unlabeled Use of Products/Investigational Use Disclosure: Dr Tsao describes preliminary findings with genetic testing.

Disclaimer: The opinions or assertions contained herein are the private views of the author and are not to be construed as official or as reflecting the views of the Department of the Navy or the Department of Defense.

© 2013 American Academy of Neurology
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