在诊断异质性临床队列中，血浆ptau217对脑脊液生物标志物定义的早发性阿尔茨海默病具有强大的诊断性能。

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

作者信息

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

机构信息

Neuropsychiatry, Royal Melbourne Hospital, 300 Grattan St, Parkville, VIC, 3052, Australia.

Department of Psychiatry, University of Melbourne, Grattan St, Parkville, Melbourne, VIC, 3052, Australia.

出版信息

J Neurol. 2024 Dec 12;272(1):25. doi: 10.1007/s00415-024-12732-3.

DOI:10.1007/s00415-024-12732-3

PMID:39666133

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.

摘要

目的

我们研究了磷酸化tau 217和181（ptau217、ptau181）、胶质纤维酸性蛋白（GFAP）、淀粉样β蛋白42和40（Aβ42、Aβ40）以及神经丝轻链（NfL）在区分生物标志物定义的阿尔茨海默病（AD）与非AD疾病方面的诊断效用，研究对象为一组异质性的年轻临床队列。

方法

使用超灵敏技术分析血浆生物标志物，并将脑脊液阿尔茨海默病特征（A+T+）患者与其他脑脊液特征（其他）患者进行比较。

结果

纳入79例患者，中位年龄60.8岁：16例A+T+，63例其他。与其他患者相比，A+T+患者的ptau217、ptau181、GFAP显著升高（分别为3.67 vs 1.12 pg/mL、3.87 vs 1.79 pg/mL、189 vs 80 pg/mL）。ptau217区分AD与其他疾病的准确率为90%（特异性88%，敏感性100%）。ptau217在临床诊断的AD中也表现出很强的诊断性能。