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000281913 1001_ $$0P:(DE-2719)9003257$$aHuber, Hanna$$b0$$eFirst author$$udzne
000281913 245__ $$aPlasma p-tau217 as a biomarker of Alzheimer's disease pathology in individuals with Down syndrome.
000281913 260__ $$a[London]$$bSpringer Nature$$c2025
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000281913 520__ $$aDiagnosing 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.
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000281913 7001_ $$00000-0003-0891-1215$$aArranz, Javier$$b1
000281913 7001_ $$aArslan, Burak$$b2
000281913 7001_ $$aLeuzy, Antoine$$b3
000281913 7001_ $$aKittel, Oscar$$b4
000281913 7001_ $$00009-0001-5339-933X$$adi Molfetta, Guglielmo$$b5
000281913 7001_ $$aBenejam, Bessy$$b6
000281913 7001_ $$00000-0002-9748-8465$$aVidela, Laura$$b7
000281913 7001_ $$aBarroeta, Isabel$$b8
000281913 7001_ $$aSoriano, Laura Del Hoyo$$b9
000281913 7001_ $$00000-0001-5643-7971$$aMaure-Blesa, Lucía$$b10
000281913 7001_ $$00000-0003-3039-9115$$aRodríguez-Baz, Íñigo$$b11
000281913 7001_ $$aArriola Infante, José Enrique$$b12
000281913 7001_ $$aIllán-Gala, Ignacio$$b13
000281913 7001_ $$00000-0002-9958-0951$$aBejanin, Alexandre$$b14
000281913 7001_ $$00000-0001-7684-6318$$aMontoliu-Gaya, Laia$$b15
000281913 7001_ $$00000-0002-2568-5478$$aLleó, Alberto$$b16
000281913 7001_ $$aCarmona-Iragui, María$$b17
000281913 7001_ $$00000-0002-3819-3245$$aAlcolea, Daniel$$b18
000281913 7001_ $$00000-0002-1890-4193$$aBlennow, Kaj$$b19
000281913 7001_ $$00000-0003-3930-4354$$aZetterberg, Henrik$$b20
000281913 7001_ $$00000-0002-1340-638X$$aFortea, Juan$$b21
000281913 7001_ $$00000-0002-3579-8804$$aAshton, Nicholas J$$b22
000281913 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-025-65882-x$$gVol. 16, no. 1, p. 9900$$n1$$p9900$$tNature Communications$$v16$$x2041-1723$$y2025
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