A brief review of recent Charcot-Marie-Tooth research and priorities.
A brief review of recent Charcot-Marie-Tooth research and priorities.
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DOI：
10.12688/f1000research.6160.1
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Moore A
中科院分区：
文献类型：
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作者：
Ekins S;Litterman NK;Arnold RJ;Burgess RW;Freundlich JS;Gray SJ;Higgins JJ;Langley B;Willis DE;Notterpek L;Pleasure D;Sereda MW;Moore A
这篇关于腓骨肌萎缩症（CMT）当前研究进展的简要综述是2014年11月7日遗传性神经病基金会（HNF）科学顾问委员会会议上发起的讨论摘要。它涵盖了最近发表和未发表的体外和体内研究。我们讨论了CMT1A最近有前途的临床前工作，新生物标志物的开发，不同动物模型的表征，以及CMT患者基因突变频率的分析。我们还描述了如何在相关领域的进展可能有利于CMT治疗的发展，包括基因治疗和干细胞研究的潜力。我们还讨论了评估和改善CMT患者生活质量的潜力。CMT研究的这一总结确定了一些可能对即将进行的临床试验产生影响的差距。我们为CMT研究和HNF可以支持的领域提供了一些优先事项。本次审查的目的是向科学界通报正在进行的研究，避免不必要的重叠，同时也强调了进一步调查的成熟领域。我们采取的一般合作方法可能对其他罕见的神经系统疾病有用。
This brief review of current research progress on Charcot-Marie-Tooth (CMT) disease is a summary of discussions initiated at the Hereditary Neuropathy Foundation (HNF) scientific advisory board meeting on November 7, 2014. It covers recent published and unpublished in vitro and in vivo research. We discuss recent promising preclinical work for CMT1A, the development of new biomarkers, the characterization of different animal models, and the analysis of the frequency of gene mutations in patients with CMT. We also describe how progress in related fields may benefit CMT therapeutic development, including the potential of gene therapy and stem cell research. We also discuss the potential to assess and improve the quality of life of CMT patients. This summary of CMT research identifies some of the gaps which may have an impact on upcoming clinical trials. We provide some priorities for CMT research and areas which HNF can support. The goal of this review is to inform the scientific community about ongoing research and to avoid unnecessary overlap, while also highlighting areas ripe for further investigation. The general collaborative approach we have taken may be useful for other rare neurological diseases.