Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort

Author Identifier

Steve Pedrini: https://orcid.org/0000-0002-6409-8022

Ralph Martins: https://orcid.org/0000-0002-4828-9363

Document Type

Journal Article

Publication Title

Journal of Neurology

Volume

272

Issue

1

PubMed ID

39666133

Publisher

Springer

School

School of Medical and Health Sciences

RAS ID

77871

Funders

National Health and Medical Research Council / MACH MRFF RART 2.2 / CJDSGN Memorial Award in memory of Michael Luscombe / RMH Foundation Spring Appeal

Grant Number

NHMRC Number : 1185180

Comments

Eratne, D., Li, Q.-X., Lewis, C., Dang, C., Kang, M. J. Y., Grewal, J., Loi, S., Walterfang, M., Evans, A. H., Malpas, C. B., Pedrini, S., Martins, R., Chatterjee, P., Zetterberg, H., Blennow, K., Berkovic, S. F., Santillo, A. F., Collins, S., Masters, C. L., Velakoulis, D., & The MiND Study Group. (2025). Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort. Journal of Neurology, 272. https://doi.org/10.1007/s00415-024-12732-3

Abstract

Objective: We investigated diagnostic utility of phosphorylated tau 217 and 181 (ptau217, ptau181), glial fibrillary acidic protein (GFAP), amyloid beta 42 and 40 (Aβ42, Aβ40), and neurofilament light (NfL) to distinguish biomarker-defined Alzheimer disease (AD) from non-AD conditions, in a heterogenous clinical cohort of younger people. Methods: Plasma biomarkers were analysed using ultrasensitive technology, and compared in patients with CSF Alzheimer disease profiles (A+T+) to other CSF profiles (Other). Results: Seventy-nine patients were included, median age 60.8 years: 16 A+T+, 63 Other. Ptau217, ptau181, GFAP were significantly elevated in A+T+ compared to Other (3.67 vs 1.12 pg/mL, 3.87 vs 1.79 pg/mL, 189 vs 80 pg/mL, respectively). ptau217 distinguished AD from Other with 90% accuracy (88% specificity, 100% sensitivity). ptau217 also demonstrated strong diagnostic performance for clinically diagnosed AD. Conclusions: Plasma ptau217 has strong diagnostic performance in distinguishing CSF biomarker-defined AD in a clinically relevant, younger cohort of people with symptoms, adding further weight for a simple diagnostic blood test for AD as a cause of a patient’s symptoms.

DOI

10.1007/s00415-024-12732-3

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