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Journal of neurology
Published

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

Authors

Dhamidhu Eratne, Qiao-Xin Li, Courtney Lewis, Christa Dang, Matthew J Y Kang, Jasleen Grewal, Samantha Loi, Mark Walterfang, Andrew H Evans, Charles B Malpas, Steve Pedrini, Ralph Martins, Pratishtha Chatterjee, Henrik Zetterberg, Kaj Blennow, Samuel F Berkovic, Alexander F Santillo, Steven Collins, Colin L Masters, Dennis Velakoulis, MiND Study Group

Abstract

J Neurol. 2024 Dec 12;272(1):25. doi: 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.

PMID:39666133 | DOI:10.1007/s00415-024-12732-3

UK DRI Authors

Profile picture of Henrik Zetterberg

Prof Henrik Zetterberg

Group Leader

Pioneering the development of fluid biomarkers for dementia

Prof Henrik Zetterberg