O'Brien David, Shaw Pamela J
Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, 285 Glossop Road, Sheffield S10 2HQ, United Kingdom.
Br Med Bull. 2024 Dec 12;152(1):4-15. doi: 10.1093/bmb/ldae010.
Motor neuron disease (MND) is a devastating neurodegenerative disease characterized by progressive muscle weakness.
PubMed, MEDLINE, and Cochrane databases were searched for articles to March 2024. Searches involved the terms 'motor neuron disease' or 'amyotrophic lateral sclerosis' and 'epidemiology', 'diagnosis', 'clinical', 'genetic', 'management', 'treatment', or 'trial'.
Evidence-based management involves riluzole, multidisciplinary care, provision of noninvasive ventilation and gastrostomy, and symptomatic treatments. Tofersen should be offered to treat SOD1-MND.
Edaravone and Relyvrio are approved treatments in the USA, but insufficient evidence was found to support approval in the UK and Europe.
The discovery of neurofilaments as MND biomarkers, growth of platform trials and development of novel therapies provide optimism for more powerful neuroprotective therapies.
Further work should focus on the elucidation of environmental causes of MND, gene-environment interactions, and advanced cellular models of disease.
运动神经元病（MND）是一种毁灭性的神经退行性疾病，其特征为进行性肌肉无力。
检索了截至2024年3月的PubMed、MEDLINE和Cochrane数据库中的文章。检索词包括“运动神经元病”或“肌萎缩侧索硬化”以及“流行病学”“诊断”“临床”“遗传学”“管理”“治疗”或“试验”。
循证管理包括利鲁唑、多学科护理、提供无创通气和胃造口术以及对症治疗。应提供托法替布来治疗超氧化物歧化酶1型运动神经元病（SOD1-MND）。
依达拉奉和Relyvrio在美国是获批的治疗药物，但在英国和欧洲未发现足够证据支持其获批。
神经丝作为运动神经元病生物标志物的发现、平台试验的发展以及新型疗法的开发为更有效的神经保护疗法带来了希望。
进一步的工作应集中在阐明运动神经元病的环境病因、基因-环境相互作用以及疾病的先进细胞模型。
