Ramchandren Sindhu
Continuum (Minneap Minn). 2017 Oct;23(5, Peripheral Nerve and Motor Neuron Disorders):1360-1377. doi: 10.1212/CON.0000000000000529.
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.
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.
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.
遗传性多发性神经病较为罕见，临床症状具有异质性。本文概述了夏科-马里-图思病及其他遗传性多发性神经病的临床特征、神经学和电诊断结果、管理策略以及基因检测算法。
在过去10年中，已鉴定出许多导致遗传性多发性神经病的突变。国际合作促成了一些联盟的发展，这些联盟正在认真进行基因型与表型的关联研究，以促进靶向治疗的开发以及未来临床试验结果指标的验证。目前，针对某些遗传性多发性神经病的临床试验正在进行。
为读者提供了一个框架，以识别各种遗传性多发性神经病的常见表现，以及当前遗传性多发性神经病诊断检测和管理策略的基本原理。
