Charcot-Marie-Tooth Disease and Other Genetic Polyneuropathies.
Charcot-Marie-Tooth Disease and Other Genetic Polyneuropathies.
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DOI：
10.1212/con.0000000000000529
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发表时间：
2017-10-01
期刊：
影响因子：
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通讯作者：
Ramchandren, Sindhu
中科院分区：
文献类型：
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作者：
Ramchandren, Sindhu
综述的目的：遗传性多发性神经病是罕见的，临床异质性。本文概述了腓骨肌萎缩症和其他遗传性多神经病变的临床特征、神经学和电诊断结果、管理策略以及基因检测算法。最近的发现：在过去的10年里，许多引起遗传性多神经病变的突变已经被确定。国际合作导致了联盟的发展，这些联盟正在进行仔细的基因型-表型相关性，以促进靶向治疗的发展和对未来临床试验结果措施的验证。目前正在进行一些遗传性多神经病变的临床试验。摘要：读者提供了一个框架，以认识各种遗传性多发性神经病的共同表现和理论基础，目前诊断测试和管理策略的遗传性多发性神经病。
PURPOSE OF REVIEW: Genetic polyneuropathies are rare and clinically heterogeneous. This article provides an overview of the clinical features, neurologic and electrodiagnostic findings, and management strategies for Charcot-Marie-Tooth disease and other genetic polyneuropathies as well as an algorithm for genetic testing.RECENT FINDINGS: In the past 10 years, many of the mutations causing genetic polyneuropathies have been identified. International collaborations have led to the development of consortiums that are undertaking careful genotype-phenotype correlations to facilitate the development of targeted therapies and validation of outcome measures for future clinical trials. Clinical trials are currently under way for some genetic polyneuropathies.SUMMARY: Readers are provided a framework to recognize common presentations of various genetic polyneuropathies and a rationale for current diagnostic testing and management strategies in genetic polyneuropathies.