Department of Neurology, Ulm University, Ulm, Germany.
Institute for Human Genetics, Ulm University, Ulm, Germany.
Ann Neurol. 2016 Jan;79(1):152-8. doi: 10.1002/ana.24552. Epub 2015 Dec 17.
Neurofilaments are elevated in the cerebrospinal fluid (CSF) and serum of amyotrophic lateral sclerosis (ALS) patients. However, timing of this increase is unknown. To characterize the premanifest disease phase, we performed a cross-sectional study on asymptomatic (n = 12) and symptomatic (n = 64) ALS mutation carriers and family controls (n = 19). Neurofilaments NF-L (neurofilament-light chain) and pNF-H (phosphorylated neurofilament-heavy chain) are normal before symptom onset and increased by at least an order of magnitude at early symptom onset in CSF (pNF-H) or serum and CSF (NF-L). Thus, blood and CSF neurofilament levels are linked to the symptomatic phase of ALS and might serve as objective markers of structural damage to the nervous system.
神经丝在肌萎缩侧索硬化症（ALS）患者的脑脊液（CSF）和血清中升高。然而，这种增加的时间尚不清楚。为了描述疾病前的阶段，我们对无症状（n=12）和有症状（n=64）的肌萎缩侧索硬化症突变携带者和家族对照（n=19）进行了一项横断面研究。在症状出现之前，神经丝 NF-L（神经丝轻链）和 pNF-H（磷酸化神经丝重链）是正常的，并且在 CSF（pNF-H）或血清和 CSF（NF-L）中的早期症状出现时至少增加了一个数量级。因此，血液和 CSF 神经丝水平与 ALS 的症状阶段相关，并可能作为神经系统结构损伤的客观标志物。
