• Juan Fortea, Shahid H Zaman, Sigan Hartley, Michael S Rafii, Elizabeth Head, and Maria Carmona-Iragui.
• Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu y Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas. CIBERNED, Madrid, Spain. Electronic address: jfortea@santpau.cat.
• Lancet Neurol. 2021 Nov 1; 20 (11): 930942930-942.

AbstractAdults with Down syndrome develop the neuropathological hallmarks of Alzheimer's disease and are at very high risk of developing early-onset dementia, which is now the leading cause of death in this population. Diagnosis of dementia remains a clinical challenge because of the lack of validated diagnostic criteria in this population, and because symptoms are overshadowed by the intellectual disability associated with Down syndrome. In people with Down syndrome, fluid and imaging biomarkers have shown good diagnostic performances and a strikingly similar temporality of changes with respect to sporadic and autosomal dominant Alzheimer's disease. Most importantly, there are no treatments to prevent Alzheimer's disease, even though adults with Down syndrome could be an optimal population in whom to conduct Alzheimer's disease prevention trials. Unprecedented research activity in Down syndrome is rapidly changing this bleak scenario that will translate into disease-modifying therapies that could benefit other populations.Copyright © 2021 The Author(s). Published by Elsevier Ltd. Published by Elsevier Ltd.. All rights reserved.

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