Plasma p-tau217 as a biomarker of Alzheimer’s disease pathology in individuals with Down syndrome
Year: 2025
Type: article
Study design: Observational Study
Abstract: Diagnosing Alzheimer's disease (AD) in adults with Down syndrome (DS), a population with a high genetically determined risk of AD, remains challenging. In this large observational study including n = 2329 samples from the Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) and euploid controls from the Sant Pau Initiative on Neurodegeneration (SPIN) with and without symptomatic AD, we investigate if the strong diagnostic performance of plasma p-tau217 observed in sporadic AD extends to the DS population. Plasma p-tau217 discriminated cognitively stable individuals with DS from those with AD dementia with an AUC of 0.96 (95% CI, 0.95-0.97), and from those with prodromal AD with an AUC of 0.90 (95% CI, 0.87-0.92). Amyloid β (Aβ) positive and Aβ negative individuals with DS were distinguished with an AUC of 0.95 (95% CI, 0.92-0.99). In this study, we demonstrate that plasma p-tau217 is highly accurate in detecting amyloid β positivity and predicting clinical progression in individuals with DS, outperforming other plasma biomarkers. These findings support its use as a reliable, noninvasive tool for early AD detection and management in individuals with DS.
Source: Nature Communications
Authors: Hanna Huber, Javier Arranz, Burak Arslan, Antoine Leuzy, Oscar Kittel, Guglielmo di Molfetta, Bessy Benejam, Laura Videla, Isabel Barroeta, Laura del Hoyo Soriano, Lucía Maure-Blesa, Íñigo Rodríguez-Baz, José Enrique Arriola Infante, Ignacio Illán-Gala, Alexandre Bejanin, Laia Montoliu-Gaya, Alberto Lleó, María Carmona-Iragui, Daniel Alcolea, Kaj Blennow, Henrik Zetterberg, Juan Fortea, Nicholas J. Ashton
Institutions: German Center for Neurodegenerative Diseases, University of Gothenburg, Universitat Autònoma de Barcelona, Hospital de Sant Pau, Institut de Recerca Sant Pau, Banner Sun Health Research Institute, Banner Alzheimer’s Institute, Biomedical Research Networking Center on Neurodegenerative Diseases, Complejo Hospitalario Torrecárdenas, University of Science and Technology of China, Sahlgrenska University Hospital, Sorbonne Université, Institut des Sciences Moléculaires, Pitié-Salpêtrière Hospital, Institut du Cerveau, University of Wisconsin–Madison, UK Dementia Research Institute, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, University College London
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $6,990
Funders: Alzheimer's Association, BrightFocus Foundation, European Commission, Fondation Jérôme Lejeune, Generalitat de Catalunya, Hjärnfonden, Vetenskapsrådet, Göteborgs Universitet, Fundación Tatiana Pérez de Guzmán el Bueno, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Fundación Bancaria Caixa d'Estalvis i Pensions de Barcelona, National Institutes of Health, Horizon 2020 Framework Programme, Instituto de Salud Carlos III, European Regional Development Fund, National Institute on Aging
Awards: Interacción de la inflamación del sistema nervioso periférico y central en la enfermedad de Alzheimer y el síndrome de Down, G1178615512, G1222782219, G1311708188, G131695710, The Alzheimer’s Association quality control (QC) program for CSF and plasma biomarkers - Continuation, G1588116593, DS-ARC: A Remote Digital Cognitive Assessment for Down Syndrome-Associated Alzheimer's Disease, G1771944843, G1838929904, Understanding Alzheimer Blood Biomarkers for Tau Pathology, G201353144, The Role of Inflammation and NGF Dysfunction in the Evolution of AlzheimerDisease Pathology in Down syndrome, G237833635, Sleep and Temperature Disturbance as risk factors for Alzheimer's Disease in Down Syndrome: a Longitudinal Study, G2501682398, G2579412745, G2628364946, The Alzheimer biomarker toolbox – use in pathogenic studies, diagnostics and theragnostics, G3012247180, G3041725664, Fluid biomarkers for neurodegenerative dementias, G3342877126, Caracterización de la inflamación relacionada con amiloide: nuevos marcadores inflamatorios y su impacto en la macroestructural y microestructura cortical en la enfermedad de Alzheimer preclínica y prodrómica, G4005162399, G434337789, G4511376228, G4605335268, G483394598, G4937468798, Tau pathology in Alzheimer´s - understanding pathophysiology through biomarkers in blood and CSF, G5296150328, G5419732218, Fluid biomarkers for neurodegenerative dementias, G5749088205, G6049260834, CASCADE: CAuSe or Consequence in Alzheimer DiseasE?, Multi-omics Interdisciplinary Research Integration to Address DEmentia diagnosis, G691317373, G712881263, G8047729998, G8824911526, G8858395165, G9000024916, G9000196586, G9000212820, G9000236700, G968800864
OpenAlex ID: W4416088268