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Alzheimer disease

New insights into preclinical Alzheimer disease

Nature Reviews Neurology volume 9, page 4 (2013)Cite this article

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Recent failures of drugs in phase III trials in patients with mild to moderate Alzheimer disease (AD) have highlighted a potential need for earlier intervention. Now, two studies in people with a genetic mutation that causes early-onset AD have shed light on changes in the CNS that accompany the preclinical phase of disease.

The studies involved members of the Colombian Alzheimer's Prevention Initiative Registry—a well-defined kindred that includes approximately 1,500 people with a dominantly inherited Glu280Ala mutation in the presenilin 1 (PSEN1) gene, which causes AD by age 50 years. “Studying this cohort provides an opportunity to better understand the preclinical pathology of individuals who we know will develop clinical manifestations of AD,” says Adam Fleisher, lead author of one of the papers.

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ORIGINAL RESEARCH PAPERS

  1. Fleisher, A. S. et al. Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study. Lancet Neurol. doi:10.1016/S1474-4422(12)70227-2

  2. Reiman, E. M. et al. Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case–control study. Lancet Neurol. doi:10.1016/S1474-4422(12)70228-4

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  1. Katie Kingwell
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Kingwell, K. New insights into preclinical Alzheimer disease. Nat Rev Neurol 9, 4 (2013). https://doi.org/10.1038/nrneurol.2012.243

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  • DOI: https://doi.org/10.1038/nrneurol.2012.243

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