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@ARTICLE{Huber:281913,
author = {Huber, Hanna and Arranz, Javier and Arslan, Burak and
Leuzy, Antoine and Kittel, Oscar and di Molfetta, Guglielmo
and Benejam, Bessy and Videla, Laura and Barroeta, Isabel
and Soriano, Laura Del Hoyo and Maure-Blesa, Lucía and
Rodríguez-Baz, Íñigo and Arriola Infante, José Enrique
and Illán-Gala, Ignacio and Bejanin, Alexandre and
Montoliu-Gaya, Laia and Lleó, Alberto and Carmona-Iragui,
María and Alcolea, Daniel and Blennow, Kaj and Zetterberg,
Henrik and Fortea, Juan and Ashton, Nicholas J},
title = {{P}lasma p-tau217 as a biomarker of {A}lzheimer's disease
pathology in individuals with {D}own syndrome.},
journal = {Nature Communications},
volume = {16},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Springer Nature},
reportid = {DZNE-2025-01255},
pages = {9900},
year = {2025},
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.},
cin = {AG Schneider},
ddc = {500},
cid = {I:(DE-2719)1011305},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41213934},
doi = {10.1038/s41467-025-65882-x},
url = {https://pub.dzne.de/record/281913},
}