ArticleCommunications medicine2026
Exploring automated plasma phospho-tau217 assays for the diagnosis of Down syndrome-related Alzheimer's disease.
Article in Communications medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundIndividuals with Down syndrome (DS) develop a genetic form of Alzheimer's disease (AD) due to an extra copy of chromosome 21, which contains the APP gene. Blood-based biomarkers of AD are becoming increasingly adopted in research and clinical practice. These tests hold promise for diagnosing AD in DS once validated.
methodsIn this exploratory study, we assessed plasma phospho-tau217 (p-tau217) in participants (n = 39) from the NIH Trial Ready Cohort - Down syndrome (TRC-DS), using predefined amyloid-PET cutoffs. Plasma p-tau217 was measured via two fully automated assays: C2N Diagnostics' PrecivityAD2 mass spectrometry and Fujirebio's Lumipulse immunoassay. The primary outcome was β-amyloid AD pathology, defined by amyloid PET > 18 centiloids.
resultsBoth p-tau217 assays showed high accuracy: AUCs of 0.94 (95% CI 0.84, 1.00) for Lumipulse and 0.91 (95% CI 0.77, 1.00) for C2N, with sensitivities of 0.88 (95% CI 0.62, 1.00), specificities of 0.90 (95% CI 0.77, 1.00) and 0.94 (95% CI 0.84, 1.00), and overall accuracies of 0.90 (95% CI 0.79, 0.97) and 0.92 (95% CI 0.82-1.00), respectively, when using maximized Youden index cutpoints.
conclusionThese preliminary results are comparable to composite plasma measures. In summary, automated p-tau217 tests offer strong potential for routine AD screening in individuals with DS.
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