Serum Neurofilament Light-Chain Concentrations in Essential Tremor: a Case-Control Study.
Serum Neurofilament Light-Chain Concentrations in Essential Tremor: a Case-Control Study.
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特发性震颤的血清神经丝轻链浓度：病例对照研究。
DOI：
10.1007/s12311-023-01583-9
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Louis,ElanD
中科院分区：
文献类型：
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作者：
Salinas,Meagen;Salinas,VictorH;McGurn,Maisie;Hernandez,Nora;Louis,ElanD
特发性震颤（ET）是一种常见的神经系统疾病，与小脑的临床和病理生理联系。对ET的病因学、病理生理学和疾病分类学的研究将受益于疾病生物标志物的鉴定。血清神经丝轻链（NfL）已成为一种新的标志性的条件，其中神经元损伤反映了正在进行的疾病过程的结果。我们试图研究ET患者和健康对照组中NfL的浓度。在这项病例对照研究中，我们的41名ET患者和40名年龄匹配的健康对照的把握度研究人群进行了临床评估和使用Simoa技术测量血清NfL浓度。ET患者的血清NfL升高-平均对数转换血清NfL浓度= 1.23 ± 0.19（95%置信区间[CI] = 1.17-1.29）vs. 1.08 ± 0.15（95% CI = 1.03-1.13），p= 0.0002。在多元线性回归模型（p= 0.002）和年龄匹配的35例ET病例和35例对照样本子集（p= 0.006）中，考虑年龄、性别和蒙特利尔认知评估评分后，这种差异持续存在。震颤严重程度与血清NfL水平之间无相关性（p= 0.73）。在ET患者和对照组的样本中，血清NfL浓度在ET中显著更高。在其他ET病例队列中进行的研究在试图复制这些结果和评估诊断效用方面具有价值。
Essential tremor (ET) is a common neurological disorder, with clinical and pathophysiological links to the cerebellum. Inquiries into the etiology, pathophysiology, and nosology of ET stand to benefit from the identification of disease biomarkers. Serum neurofilament light chain (NfL) has emerged as a novel signature of conditions in which neuronal injury reflects an outcome of the ongoing disease process. We sought to investigate the concentrations of NfL in ET patients and healthy controls. In this case–control study, our powered study population of 41 ET patients and 40 age-matched healthy controls underwent clinical assessments and measurement of serum NfL concentration using Simoa technology. Serum NfL was elevated in ET patients - mean log-transformed serum NfL concentration = 1.23 ± 0.19 (95% confidence interval [CI] = 1.17–1.29) vs. 1.08 ± 0.15 (95% CI = 1.03–1.13),p= 0.0002. This difference persisted after accounting for age, sex and Montreal Cognitive Assessment score in a multiple linear regression model (p= 0.002) and in an age-matched sample subset of 35 ET cases and 35 controls (p= 0.006). There was no association between tremor severity and serum NfL levels (p= 0.73). In this sample of ET patients and controls, serum NfL concentrations were significantly higher in ET. Studies in additional cohorts of ET cases would be of value in attempting to replicate these results and assessing diagnostic utility.