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The concept of FDG-PET endophenotype in Alzheimer’s disease

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Abstract

Often viewed as a potential tool for preclinical diagnosis in early asymptomatic stages of Alzheimer’s disease (AD), the term “endophenotype” has acquired a recent popularity in the field. In this review, we analyze the construct of endophenotype—originally designed to discover genes, and examine the literature on potential endophenotypes for the late-onset form of AD (LOAD). We focus on the [18F]-fluoro-2-deoxyglucose (FDG) PET technique, which shows a characteristic pattern of hypometabolism in AD-related regions in asymptomatic carriers of the ApoE E4 allele and in children of AD mothers. We discuss the pathophysiological significance and the positive predictive accuracy of an FDG-endophenotype for LOAD in asymptomatic subjects, and discuss several applications of this endophenotype in the identification of both promoting and protective factors. Finally, we suggest that the term “endophenotype” should be reserved to the study of risk factors, and not to the preclinical diagnosis of LOAD.

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Authors and Affiliations

  1. Center for Brain Health, Silberstein Alzheimer’s Institute, Center of Excellence on Brain Aging at NYU Langone Medical Center, NYU School of Medicine, 145 East 32nd Street, New York, NY, 10016, USA

    Emmanuel H. During, R. S. Osorio, L. Mosconi & M. J. de Leon

  2. Alzheimer’s Disease Research Unit, CIEN Foundation-Carlos III Institute of Health, Alzheimer Center Reina, Madrid, Spain

    R. S. Osorio

  3. Department of Neurology, University of California, Los Angeles (UCLA), Los Angeles, CA, USA

    F. M. Elahi

  4. Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK

    F. M. Elahi

  5. Nathan Kline Institute, Orangeburg, NY, USA

    M. J. de Leon

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  1. Emmanuel H. During
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  2. R. S. Osorio
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  3. F. M. Elahi
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  4. L. Mosconi
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  5. M. J. de Leon
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Correspondence to Emmanuel H. During.

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During, E.H., Osorio, R.S., Elahi, F.M. et al. The concept of FDG-PET endophenotype in Alzheimer’s disease. Neurol Sci 32, 559–569 (2011). https://doi.org/10.1007/s10072-011-0633-1

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  • DOI: https://doi.org/10.1007/s10072-011-0633-1

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