Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK
Department of Neurology, The University of Kansas Medical Center, Kansas City, Kansas, USA.
J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):373-377. doi: 10.1136/jnnp-2019-322541. Epub 2020 Feb 6.
Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. Differentiation of PLS from upper motor neuron-predominant forms of amyotrophic lateral sclerosis remains a significant challenge in the early symptomatic phase of both disorders, with ongoing debate as to whether they form a clinical and histopathological continuum. Current diagnostic criteria for PLS may be a barrier to therapeutic development, requiring long delays between symptom onset and formal diagnosis. While new technologies sensitive to both upper and lower motor neuron involvement may ultimately resolve controversies in the diagnosis of PLS, we present updated consensus diagnostic criteria with the aim of reducing diagnostic delay, optimising therapeutic trial design and catalysing the development of disease-modifying therapy.
原发性侧索硬化症（PLS）是一种成人运动系统的神经退行性疾病。其特征为进行性缓慢的上运动神经元综合征，在排除结构、神经退行性和代谢性疾病后即可做出临床诊断。在这两种疾病的早期症状期，将 PLS 与以运动神经元为主的肌萎缩侧索硬化症相区分仍然是一项重大挑战，关于它们是否构成临床和组织病理学连续体的争论仍在继续。目前的 PLS 诊断标准可能是治疗开发的障碍，需要在症状出现和正式诊断之间进行长时间的延迟。虽然对上下运动神经元均敏感的新技术最终可能会解决 PLS 诊断中的争议，但我们提出了更新的共识诊断标准，目的是减少诊断延迟，优化治疗试验设计，并促进疾病修饰治疗的发展。
