Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies
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DOI：
10.1007/s00415-009-5163-x
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发表时间：
2009-10-01
影响因子：
6
通讯作者：
Zerr, Inga
中科院分区：
文献类型：
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作者：
Ladogana, Anna;Sanchez-Juan, Pascual;Zerr, Inga
14-3-3蛋白检测已被证明支持散发性克雅氏病（CJD）的临床诊断，当与足够的临床背景，和一个高的鉴别诊断潜力散发性CJD已被归因于其他脑脊液（CSF）蛋白，如tau蛋白，S100 b和神经元特异性烯醇化酶（NSE）。到目前为止，关于遗传性海绵状脑病（gTSE）的生化标志物的信息有限，尽管它们占人类TSE的10-15%。在这项研究中，我们分析了174例gTSE患者的CSF中的14-3-3（n = 166）、tau蛋白（n = 78）、S100 b（n = 46）和NSE（n = 50）。CSF中脑源性蛋白的水平在不同形式的gTSE中不同。大多数gCJD（81%）和插入性gTSE（69%）的生物标志物均呈阳性，而大多数致命性家族性失眠症（13%）和Gerstmann-Straussler-Scheinker综合征（10%）的生物标志物均呈阴性。疾病持续时间和密码子129基因型以不同于散发性CJD的方式影响结果。
The 14-3-3 protein test has been shown to support the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) when associated with an adequate clinical context, and a high differential potential for the diagnosis of sporadic CJD has been attributed to other cerebrospinal fluid (CSF) proteins such as tau protein, S100b and neuron specific enolase (NSE). So far there has been only limited information available about biochemical markers in genetic transmissible spongiform encephalopathies (gTSE), although they represent 10-15% of human TSEs. In this study, we analyzed CSF of 174 patients with gTSEs for 14-3-3 (n = 166), tau protein (n = 78), S100b (n = 46) and NSE (n = 50). Levels of brain-derived proteins in CSF varied in different forms of gTSE. Biomarkers were found positive in the majority of gCJD (81%) and insert gTSE (69%), while they were negative in most cases of fatal familial insomnia (13%) and Gerstmann-Straussler-Scheinker syndrome (10%). Disease duration and codon 129 genotype influence the findings in a different way than in sporadic CJD.