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International Journal of Alzheimer’s Disease
Volume 2011, Article ID 490140, 15 pages
Review Article

Neuroimaging Measures as Endophenotypes in Alzheimer's Disease

1Laboratory of Neuro Imaging, Department of Neurology, UCLA School of Medicine, 635 Charles Young Drive South, Suite 225, Los Angeles, CA 90095, USA
2Mary S. Easton Center for Alzheimer's Disease Research, Department of Neurology, UCLA School of Medicine, 10911 Weyburn Avenue, Suite 200, Los Angeles, CA 90095, USA

Received 2 September 2010; Revised 8 January 2011; Accepted 7 February 2011

Academic Editor: Lindsay A. Farrer

Copyright © 2011 Meredith N. Braskie et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Late onset Alzheimer's disease (AD) is moderately to highly heritable. Apolipoprotein E allele ε4 (APOE4) has been replicated consistently as an AD risk factor over many studies, and recently confirmed variants in other genes such as CLU, CR1, and PICALM each increase the lifetime risk of AD. However, much of the heritability of AD remains unexplained. AD is a complex disease that is diagnosed largely through neuropsychological testing, though neuroimaging measures may be more sensitive for detecting the incipient disease stages. Difficulties in early diagnosis and variable environmental contributions to the disease can obscure genetic relationships in traditional case-control genetic studies. Neuroimaging measures may be used as endophenotypes for AD, offering a reliable, objective tool to search for possible genetic risk factors. Imaging measures might also clarify the specific mechanisms by which proposed risk factors influence the brain.