Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study

The Lancet Neurology

Fecha de publicación: Agosto de 2021

Autores: Maria Carmona-Iragui, PhD  , Daniel Alcolea, PhD , Isabel Barroeta, PhD, Laura Videla, MSc, Laia Muñoz, BSc, Kathyrn L Van Pelt, PhD, Prof Frederick A Schmitt, PhD, Donita D Lightner, MD, Lisa M Koehl, PhD, Gregory Jicha, PhD, Silvia Sacco, PhD, Clotilde Mircher, MD, Sarah E Pape, MBBS, Rosalyn Hithersay, PhD, Isabel C H Clare, PhD, Anthony J Holland, MD, Georg Nübling, MD, Prof Johannes Levin, MD, Shahid H Zaman, PhD, Prof Andre Strydom, PhD, Anne-Sophie Rebillat, PhD, Elizabeth Head, PhD, Rafael Blesa, PhD, Alberto Lleó, PhD, Juan Fortea, PhD 

DOI: https://doi.org/10.1016/S1474-4422(21)00129-0

Background: Adults with Down syndrome are at an ultra-high risk of Alzheimer’s disease, but diagnosis of Alzheimer’s disease in this population is challenging. We aimed to validate the clinical utility of plasma neurofilament light chain (NfL) for the diagnosis of symptomatic Alzheimer’s disease in Down syndrome, assess its prognostic value, and establish longitudinal changes in adults with Down syndrome.

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