Pareyson Davide, Marchesi Chiara, Salsano Ettore
Unit of Neurology VIII, Clinics of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Curr Opin Neurol. 2009 Oct;22(5):451-9. doi: 10.1097/WCO.0b013e3283311dfd.
We review recent advances in Charcot-Marie-Tooth disease (CMT), the most frequent inherited neuromuscular disorder.
During the last year further progresses have occurred in this field and concerned identification of novel mutations in recently identified genes, allowing better definition of associated phenotypes; increased knowledge on pathophysiologic mechanisms of the different CMT types, with the contribution of cellular and animal model studies; studies on the natural history of CMT and attempts at developing appropriate outcome measures to assess disease course and intervention efficacy; trials with ascorbic acid in CMT type 1A; and studies on new possible therapeutic strategies.
Such advances have implications on clinical management of CMT and are modifying the clinical approach to CMT, by improving diagnostic tools, allowing better definition of prognosis, and increasing the hope for future effective treatments. Research on CMT is important as is shedding light on important pathways that regulates the normal function of axonal transport, vesicular trafficking, and also revealing new aspects of intracellular organelles' function and interactions.
我们回顾了腓骨肌萎缩症（CMT）这一最常见的遗传性神经肌肉疾病的最新进展。
去年该领域取得了进一步进展，涉及在最近鉴定出的基因中发现新的突变，从而能更好地定义相关表型；在细胞和动物模型研究的帮助下，对不同类型CMT病理生理机制的认识有所增加；对CMT自然史的研究以及尝试开发合适的结局指标以评估疾病进程和干预效果；1A型CMT的抗坏血酸试验；以及对新的可能治疗策略的研究。
这些进展对CMT的临床管理具有重要意义，正在改变CMT的临床治疗方法，通过改进诊断工具，更好地定义预后，并增加未来有效治疗的希望。对CMT的研究很重要，因为它揭示了调节轴突运输、囊泡运输正常功能的重要途径，还揭示了细胞内细胞器功能和相互作用的新方面。
