Plasma p-tau217 as a biomarker of Alzheimer’s disease pathology in individuals with Down syndrome

Hanna Huber, Javier Arranz, Burak Arslan, Antoine Leuzy, Oscar Kittel, Guglielmo 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 and Nicholas J. Ashton ()
Additional contact information
Hanna Huber: University of Gothenburg
Javier Arranz: Universitat Autònoma de Barcelona
Burak Arslan: University of Gothenburg
Antoine Leuzy: University of Gothenburg
Oscar Kittel: University of Gothenburg
Guglielmo Molfetta: University of Gothenburg
Bessy Benejam: Universitat Autònoma de Barcelona
Laura Videla: Universitat Autònoma de Barcelona
Isabel Barroeta: Universitat Autònoma de Barcelona
Laura del Hoyo Soriano: Universitat Autònoma de Barcelona
Lucía Maure-Blesa: Universitat Autònoma de Barcelona
Íñigo Rodríguez-Baz: Universitat Autònoma de Barcelona
José Enrique Arriola Infante: Center of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED)
Ignacio Illán-Gala: Universitat Autònoma de Barcelona
Alexandre Bejanin: Universitat Autònoma de Barcelona
Laia Montoliu-Gaya: University of Gothenburg
Alberto Lleó: Universitat Autònoma de Barcelona
María Carmona-Iragui: Universitat Autònoma de Barcelona
Daniel Alcolea: Universitat Autònoma de Barcelona
Kaj Blennow: University of Gothenburg
Henrik Zetterberg: University of Gothenburg
Juan Fortea: Universitat Autònoma de Barcelona
Nicholas J. Ashton: University of Gothenburg

Nature Communications, 2025, vol. 16, issue 1, 1-8

Abstract: 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.

Date: 2025
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DOI: 10.1038/s41467-025-65882-x

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