Journal Article

DZNE-2025-01255

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Plasma p-tau217 as a biomarker of Alzheimer's disease pathology in individuals with Down syndrome.

Huber, H. (First author)DZNE* ; Arranz, J. ; Arslan, B. ; Leuzy, A. ; Kittel, O. ; di Molfetta, G. ; Benejam, B. ; Videla, L. ; Barroeta, I. ; Soriano, L. D. H. ; Maure-Blesa, L. ; Rodríguez-Baz, Í. ; Arriola Infante, J. E. ; Illán-Gala, I. ; Bejanin, A. ; Montoliu-Gaya, L. ; Lleó, A. ; Carmona-Iragui, M. ; Alcolea, D. ; Blennow, K. ; Zetterberg, H. ; Fortea, J. ; Ashton, N. J.

2025
Springer Nature [London]

This record in other databases:    

Please use a persistent id in citations: doi:10.1038/s41467-025-65882-x

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.

---

Contributing Institute(s):

1. Translational Dementia Research (Bonn) (AG Schneider)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

---

Database coverage:
; ; ; Article Processing Charges ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Agriculture, Biology and Environmental Sciences ; Current Contents - Life Sciences ; Current Contents - Physical, Chemical and Earth Sciences ; DOAJ Seal ; Essential Science Indicators ; Fees ; IF >= 15 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection ; Zoological Record

---