Automated Plasma Phospho-tau217 Assays for the diagnosis of Down Syndrome-Related Alzheimer's Disease
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Individuals 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. The widespread implementation of blood-based biomarkers for AD is imminent. These tests hold promise for diagnosing AD in DS once validated. In this study, we assessed plasma phospho-tau217 (p-tau217) in participants 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 AD pathology, defined by amyloid PET >18 centiloids. Both assays showed high accuracy: AUCs of 0.92 and 0.90, with sensitivities of 0.88 and specificities of 0.94 and 0.90, respectively. These results are comparable to composite plasma measures. In conclusion, automated p-tau217 tests offer strong potential for routine AD screening in individuals with DS.
