Department of Clinical Neuroscience, UCL Institute of Neurology, London, UK.
Institute of Neuroscience and Physiology, Goteborgs Universitet, Gothenburg, Sweden.
J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):883-888. doi: 10.1136/jnnp-2017-315857. Epub 2017 Jun 9.
Progressive supranuclear palsy (PSP) is a rare and progressive neurodegenerative condition characterised pathologically by neuronal cell loss due to abnormal tau deposits. Clinically, the condition manifests as parkinsonism with the addition of progressive balance, speech, swallowing, eye movement and cognitive impairment, ultimately leading to death. Measuring change over time in neurodegenerative conditions is central to defining the effects of therapeutic intervention and disease biology. The current gold standard for measuring clinical disease progression in PSP is the PSP Rating Scale score. However, such scales may be affected by intrarater and inter-rater variability. In addition, their use in clinical trials may be hindered by differences in the time interval between pathological disease progression/response to therapeutics and change in clinical state. Therefore, the need for reliable disease progression biomarkers to complement clinical rating scales is clear. Here we discuss the benefits of using biomarkers to predict and track disease progression in both clinical and research settings. Through reviewing the literature to date on the role of cerebrospinal fluid (CSF) and blood biomarkers, we highlight data that reveals the ability of CSF and plasma neurofilament light chain (NF-L) to predict and track clinical disease progression in PSP. We also discuss the need for large-scale longitudinal studies to identify novel biomarkers.
进行性核上性麻痹（PSP）是一种罕见的进行性神经退行性疾病，其病理学特征是由于异常的 tau 沉积导致神经元细胞丧失。临床上，该疾病表现为帕金森病，伴有进行性平衡、言语、吞咽、眼球运动和认知障碍，最终导致死亡。测量神经退行性疾病随时间的变化对于确定治疗干预和疾病生物学的效果至关重要。目前测量 PSP 临床疾病进展的金标准是 PSP 评分量表评分。然而，这些量表可能受到观察者内和观察者间变异性的影响。此外，它们在临床试验中的应用可能因病理疾病进展/对治疗的反应与临床状态变化之间的时间间隔不同而受到阻碍。因此，需要可靠的疾病进展生物标志物来补充临床评分量表是明确的。在这里，我们讨论了在临床和研究环境中使用生物标志物来预测和跟踪疾病进展的好处。通过回顾迄今为止关于脑脊液（CSF）和血液生物标志物作用的文献，我们强调了 CSF 和血浆神经丝轻链（NF-L）能够预测和跟踪 PSP 临床疾病进展的数据。我们还讨论了需要进行大规模的纵向研究来识别新的生物标志物。
