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利用脑脊液生物标志物诊断阿尔茨海默病:澳大利亚视角

Using cerebrospinal fluid biomarkers to diagnose Alzheimer's disease: an Australian perspective.

作者信息

Eratne Dhamidhu, Collins Steven, Nestor Peter J, Pond Dimity, Velakoulis Dennis, Yates Mark, Masters Colin L

机构信息

Neuropsychiatry Centre, The Royal Melbourne Hospital, Melbourne, VIC, Australia.

National Dementia Diagnostics Laboratory, The Florey Institute, The University of Melbourne, Melbourne, VIC, Australia.

出版信息

Front Psychiatry. 2024 Dec 5;15:1488494. doi: 10.3389/fpsyt.2024.1488494. eCollection 2024.

DOI:10.3389/fpsyt.2024.1488494
PMID:39703457
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11656523/
Abstract

Cerebrospinal fluid (CSF) biomarkers are currently the only clinically validated biofluid diagnostic test for Alzheimer's Disease (AD) available in Australia. Testing of CSF biomarkers via lumbar puncture (LP), including quantification of amyloid-β peptide, total tau protein, and phosphorylated tau, can give insight into underlying pathophysiological changes and provide greater certainty in confirming or excluding the presence of Alzheimer's disease changes compared to standard clinical and radiological assessments. Despite CSF analysis being a safe and cost-effective diagnostic method, the use of CSF biomarkers in the evaluation of potential AD remains limited in Australian clinical practice due to a variety of factors, including regional access challenges, concerns over the perceived invasiveness of LP and a lack of confidence among clinicians in interpreting the results. The advent of disease-modifying therapies as a potential new treatment strategy to reduce the rate of progression in people with AD will drive the demand for early diagnosis of AD. This perspective argues for broader adoption of CSF biomarker testing by providing evidence-based, clinically informed expert guidance on when and why to consider CSF biomarker testing.

摘要

脑脊液(CSF)生物标志物是目前澳大利亚唯一经过临床验证的用于阿尔茨海默病(AD)的生物流体诊断测试。通过腰椎穿刺(LP)检测脑脊液生物标志物,包括淀粉样β肽、总tau蛋白和磷酸化tau的定量分析,与标准临床和放射学评估相比,能够深入了解潜在的病理生理变化,并在确认或排除阿尔茨海默病变化方面提供更高的确定性。尽管脑脊液分析是一种安全且具有成本效益的诊断方法,但由于多种因素,包括区域获取挑战、对腰椎穿刺侵入性的担忧以及临床医生对解读结果缺乏信心,脑脊液生物标志物在澳大利亚临床实践中对潜在AD的评估中的应用仍然有限。作为一种潜在的新治疗策略,疾病修饰疗法的出现旨在降低AD患者的疾病进展速度,这将推动对AD早期诊断的需求。本文观点主张通过提供基于证据、临床知情的专家指导,说明何时以及为何考虑进行脑脊液生物标志物检测,以更广泛地采用脑脊液生物标志物检测。

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本文引用的文献

1
Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting.在临床环境中,血浆和脑脊液神经丝轻链可将神经退行性疾病与原发性精神疾病区分开来。
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Blood Biomarkers to Detect Alzheimer Disease in Primary Care and Secondary Care.用于在初级保健和二级保健中检测阿尔茨海默病的血液生物标志物。
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Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup.修订的阿尔茨海默病诊断和分期标准:阿尔茨海默病协会工作组。
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Effects of time of the day at sampling on CSF and plasma levels of Alzheimer' disease biomarkers.采样时间对阿尔茨海默病生物标志物的脑脊液和血浆水平的影响。
Alzheimers Res Ther. 2024 Jun 22;16(1):132. doi: 10.1186/s13195-024-01503-x.
5
Diagnostic Accuracy of a Plasma Phosphorylated Tau 217 Immunoassay for Alzheimer Disease Pathology.血浆磷酸化 Tau 217 免疫测定法对阿尔茨海默病病理学的诊断准确性
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6
Plasma Biomarker Strategy for Selecting Patients With Alzheimer Disease for Antiamyloid Immunotherapies.针对阿尔茨海默病患者进行抗淀粉样蛋白免疫疗法的血浆生物标志物策略。
JAMA Neurol. 2024 Jan 1;81(1):69-78. doi: 10.1001/jamaneurol.2023.4596.
7
Plasma neurofilament light in behavioural variant frontotemporal dementia compared to mood and psychotic disorders.与心境障碍和精神病性障碍相比,行为变异型额颞叶痴呆患者的血浆神经丝轻链。
Aust N Z J Psychiatry. 2024 Jan;58(1):70-81. doi: 10.1177/00048674231187312. Epub 2023 Jul 21.
8
Towards a future where Alzheimer's disease pathology is stopped before the onset of dementia.致力于实现这样一个未来:在痴呆症发作之前阻止阿尔茨海默病的病理进程。
Nat Aging. 2023 May;3(5):494-505. doi: 10.1038/s43587-023-00404-2. Epub 2023 May 18.
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Plasma Aβ42/40 ratio, p-tau181, GFAP, and NfL across the Alzheimer's disease continuum: A cross-sectional and longitudinal study in the AIBL cohort.阿尔茨海默病连续体中的血浆 Aβ42/40 比值、p-tau181、GFAP 和 NfL:AIBL 队列的横断面和纵向研究。
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Clinical utility of cerebrospinal fluid biomarkers in the evaluation of cognitive impairment: a systematic review and meta-analysis.脑脊液生物标志物在认知障碍评估中的临床应用:一项系统评价和荟萃分析。
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