Balendra Rubika, Patani Rickie
Rubika Balendra, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.
World J Methodol. 2016 Mar 26;6(1):56-64. doi: 10.5662/wjm.v6.i1.56.
Motor neuron disease (MND), also known as amyotrophic lateral sclerosis, is a relentlessly progressive neurodegenerative condition that is invariably fatal, usually within 3 to 5 years of diagnosis. The aetio-pathogenesis of MND remains unresolved and no effective treatments exist. The only Food and Drug Administration approved disease modifying therapy is riluzole, a glutamate antagonist, which prolongs survival by up to 3 mo. Current management is largely symptomatic/supportive. There is therefore a desperate and unmet clinical need for discovery of disease mechanisms to guide novel therapeutic strategy. In this review, we start by introducing the organizational anatomy of the motor system, before providing a clinical overview of its dysfunction specifically in MND. We then summarize insights gained from pathological, genetic and animal models and conclude by speculating on optimal strategies to drive the step change in discovery, which is so desperately needed in this arena.
运动神经元病（MND），也称为肌萎缩侧索硬化症，是一种无情进展的神经退行性疾病，通常在确诊后3至5年内必然致命。MND的病因发病机制仍未明确，且尚无有效治疗方法。美国食品药品监督管理局唯一批准的疾病修饰疗法是利鲁唑，一种谷氨酸拮抗剂，可将生存期延长至多3个月。目前的治疗主要是对症/支持治疗。因此，迫切需要发现疾病机制以指导新的治疗策略，而这一临床需求尚未得到满足。在本综述中，我们首先介绍运动系统的组织解剖结构，然后专门针对MND提供其功能障碍的临床概述。接着，我们总结从病理、遗传和动物模型中获得的见解，并通过推测推动该领域迫切需要的突破性发现的最佳策略来得出结论。
