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July 15, 2019

The Challenge of Defining Alzheimer Disease Based on Biomarkers in the Absence of Symptoms

Author Affiliations
  • 1Department of Neurology, Massachusetts General Hospital, Boston
  • 2Massachusetts Alzheimer’s Disease Research Center, Boston
  • 3C. S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital, Boston
JAMA Neurol. 2019;76(10):1143-1144. doi:10.1001/jamaneurol.2019.1667

The search for biomarkers in Alzheimer disease (AD) has been driven by the expectation that such markers will facilitate diagnosis in advance of significant clinical impairment, as well as serve as surrogate markers for clinical trials. The leading biomarkers now in practice are directed at early identification of the 2 neuropathologic hallmarks of the disorder, namely, amyloid plaques and neurofibrillary tangles. The widely defended view is that these pathologic changes silently accumulate in the brain over years if not decades before symptoms occur. Therefore, having meaningful biomarkers would have the potential to shape diagnosis, disease-modifying therapies, and preventive measures in the future. However, the definition of disease through biomarkers rather than symptoms can lead to confusion.

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