首次转诊时利用阿尔茨海默病生物标志物可提高鉴别诊断的准确性,同时排除克雅氏病。

IF 4 Q1 CLINICAL NEUROLOGY Alzheimer''s and Dementia: Diagnosis, Assessment and Disease Monitoring Pub Date : 2024-02-13 eCollection Date: 2024-01-01 DOI:10.1002/dad2.12548
Zitianyu Wang, Victoria Lewis, Christiane Stehmann, Shiji Varghese, Matteo Senesi, Amelia McGlade, Laura J Ellett, James D Doecke, Dhamidhu Eratne, Dennis Velakoulis, Colin L Masters, Steven J Collins, Qiao-Xin Li
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引用次数: 0

摘要

大多数疑似克雅氏病(CJD)病例最终被诊断为其他疾病。我们评估了对疑似克雅氏病患者进行阿尔茨海默病(AD)生物标志物和神经丝光(NfL)检测的效用。研究队列包括转诊进行CJD生物标记物筛查的脑脊液(CSF)样本,其中淀粉样β1-42(Aβ1-42)、磷酸化tau 181(p-tau181)和总tau(t-tau)可通过Elecsys免疫测定法进行评估(n = 419),NfL可通过酶联免疫吸附法(ELISA)进行评估(n = 161)。在非 CJD 子队列(n = 371)中,59% 的受试者(219/371)出现 A+T-(仅 Aβ1-42 异常),21% 的受试者(79/371)出现 A+T+(Aβ1-42 和 p-tau181 异常)。在 48 名 CJD 受试者中,也观察到了类似的 AD 生物标志物分布。为了部分解决可能的症状前注意力缺失症的发病率问题,利用 NfL 评估神经元损伤。在 40 至 69 岁的 A+T- 受试者中,76%(25/33)的 NfL 异常,其中 80%(20/25)的 t-tau 正常。这项研究进一步证实了AD是疑似CJD的重要鉴别诊断方法之一,并强调了在初始检测中加入AD生物标志物和NfL是值得的。
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Alzheimer's disease biomarker utilization at first referral enhances differential diagnostic precision with simultaneous exclusion of Creutzfeldt-Jakob disease.

Most suspected Creutzfeldt-Jakob disease (CJD) cases are eventually diagnosed with other disorders. We assessed the utility of investigating Alzheimer's disease (AD) biomarkers and neurofilament light (NfL) in patients when CJD is suspected. The study cohort consisted of cerebrospinal fluid (CSF) samples referred for CJD biomarker screening wherein amyloid beta 1-42 (Aβ1-42), phosphorylated tau 181 (p-tau181), and total tau (t-tau) could be assessed via Elecsys immunoassays (n = 419) and NfL via enzyme-linked immunosorbent assay (ELISA; n = 161). In the non-CJD sub cohort (n = 371), 59% (219/371) had A+T- (abnormal Aβ1-42 only) and 21% (79/371) returned A+T+ (abnormal Aβ1-42 and p-tau181). In the 48 CJD subjects, a similar AD biomarker profile distribution was observed. To partially address the prevalence of likely pre-symptomatic AD, NfL was utilized to assess for neuronal damage. NfL was abnormal in 76% (25/33) of A+T- subjects 40 to 69 years of age, 80% (20/25) of whom had normal t-tau. This study reinforces AD as an important differential diagnosis of suspected CJD, highlighting that incorporating AD biomarkers and NfL at initial testing is worthwhile.

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来源期刊
CiteScore
7.80
自引率
7.50%
发文量
101
审稿时长
8 weeks
期刊介绍: Alzheimer''s & Dementia: Diagnosis, Assessment & Disease Monitoring (DADM) is an open access, peer-reviewed, journal from the Alzheimer''s Association® that will publish new research that reports the discovery, development and validation of instruments, technologies, algorithms, and innovative processes. Papers will cover a range of topics interested in the early and accurate detection of individuals with memory complaints and/or among asymptomatic individuals at elevated risk for various forms of memory disorders. The expectation for published papers will be to translate fundamental knowledge about the neurobiology of the disease into practical reports that describe both the conceptual and methodological aspects of the submitted scientific inquiry. Published topics will explore the development of biomarkers, surrogate markers, and conceptual/methodological challenges. Publication priority will be given to papers that 1) describe putative surrogate markers that accurately track disease progression, 2) biomarkers that fulfill international regulatory requirements, 3) reports from large, well-characterized population-based cohorts that comprise the heterogeneity and diversity of asymptomatic individuals and 4) algorithmic development that considers multi-marker arrays (e.g., integrated-omics, genetics, biofluids, imaging, etc.) and advanced computational analytics and technologies.
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