Publication in The Lancet: natural history of Alzheimer’s disease in people with Down syndrome

Publication in The Lancet

The Lancet, a world reference journal in Medicine, publishes the article “Clinical and Biomarker changes of Alzheimer’s disease in adults with Down syndrome: a cross-sectional study“, led by the Alzheimer Down Unit of the Hospital de Sant Pau and the Down Syndrome Catalan Foundation, in collaboration with researchers from the University of Cambridge, United Kingdom, and with the support of the “la Caixa” Foundation.

Down - Sant Pau Memory Unit - The Lancet

What have we done in this study?

This work describes, for the first time, the natural history of Alzheimer’s disease in people with Down syndrome. Determines the order and timing of the changes in the different biomarkers that precede the cognitive decline associated with Alzheimer’s in Down Syndrome. The ground-breaking study included a total of 388 participants with Down syndrome and 242 healthy controls, and analyzes biochemical, neuroimaging, and cognitive biomarkers.

Main results

The results of this research work show that changes in cognitive, biochemical and imaging biomarkers in users with Down syndrome have spanned more than 20 years. This establishes a long preclinical phase where biomarkers follow a predictable order of change over more than two decades before the onset of Alzheimer’s disease dementia and in an order and timing strikingly similar to those described in the sporadic and autosomal dominant Alzheimer.

Down Biomarkers - Sant Pau Memory Unit - The Lancet

Relevance of the study

Knowing this preclinical phase of the disease offers a wonderful window of opportunity to intervene before symptoms develop. Understanding the pattern of changes in different biomarkers is crucial for the design of clinical trials in Down syndrome, aimed at preventing or moderating the progression of Alzheimer’s disease in this population, since these biomarkers could be useful in selecting therapeutic targets and to monitor disease progression or response to potential treatment.

More information

Clinical and biomarker changes of Alzheimer’s disease in adults with Down syndrome: a cross-sectional study. Fortea, J, Vilaplana, E, Carmona-Iragui, M et al. Lancet 2020

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