YANG Hong-Qi, CHEN Sheng-Di. Department of Neurology, Henan Provincial People’s Hospital Zhengzhou 450003, China

[ Abstract ]  As diagnostic biomarkers of Alzheimer’s disease (AD), cerebrospinal fluid Aβ₄₂, tau and phosphorylated tau have high sensitivity and specificity, but the invasiveness of lumber puncture restricted its clinical application. As a component of cytoskeleton, the main function of neurofilament light chain (NfL) is to maintain the stability of axon and nerve conduction. Under normal circumstances, the concentration of NfL in blood is very slow. But under pathological conditions such as neurodegeneration and infection, NfL can be released into the blood and its concentration increased significantly. In patients with mild cognitive impairment and sporadic Alzheimer’s disease, it is reported that the serum NfL concentration increased significantly as compared with non-cognitive impairment controls. In familial Alzheimer’s disease with specific mutation carriers, serum NfL concentration is higher in cognitive impaired carriers than in cognitive unimpaired carriers, while the later is higher than in non-carriers. In both sporadic and familial Alzheimer’s disease patients, the NfL concentration correlated with baseline and follow-up cognitive scores, cerebral imaging changes and clinical profiles. Here the roles of NfL in the diagnosis of Alzheimer’s disease in cross-sectional and longitudinal studies were discussed in details.

神经丝蛋白轻链在阿尔茨海默病诊断中的价值^①

杨红旗  陈生弟^② （河南省人民医院神经内科，郑州 450003）

2020年7月 第三卷 第三期  文章编号  2096-5516 (2020) 03-0177-05  doi: 10.3969/j.issn.2096-5516.2020.03.002

[ 摘  要 ]  脑脊液Aβ₄₂蛋白、tau蛋白和磷酸化tau蛋白作为阿尔茨海默病的诊断标志物，具有较高的敏感性和特异性，但腰椎穿刺的有创性限制了其临床应用。神经丝蛋白轻链是细胞骨架蛋白的一种，主要功能是维持轴突的稳定和神经传导。正常情况下血液里面含量极少，但在神经变性、感染等病理条件下，血液神经丝蛋白轻链浓度显著增高。研究显示，轻度认知功能障碍和散发性阿尔茨海默病患者，血液神经丝蛋白轻链浓度显著高于非认知障碍对照组。家族性阿尔茨海默病患者，有症状的突变基因携带者血液神经丝蛋白轻链浓度高于无症状的携带者，后者高于非突变基因携带对照者。无论散发性或者家族性阿尔茨海默病患者，血液神经丝蛋白轻链浓度均与基线和随访的认知障碍评分、影像改变和临床病程相关。本文探讨了神经丝蛋白轻链在阿尔茨海默病诊断中的价值。