Department of Neurology, The Ohio State University, Columbus, OH 43210, USA.
Department of Neurology, Division of Neuromuscular Disorders, The Ohio State University, Wexner Medical Center, Columbus, OH 43210, USA.
Int J Mol Sci. 2019 Jul 12;20(14):3419. doi: 10.3390/ijms20143419.
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is of paramount importance in providing a substrate for current and future targeted disease-modifying treatment options. Considerable research attention for disease-modifying therapy has been geared towards the most commonly encountered genetic mutations (, , , and ). In this review, we highlight the clinical background, molecular understanding, and therapeutic investigations of these CMT subtypes, while also discussing therapeutic research pertinent to the remaining less common CMT subtypes.
腓骨肌萎缩症（CMT）是最常见的遗传性周围神经病。最常见的遗传方式为常染色体显性遗传，但也存在 X 连锁和常染色体隐性遗传亚型。除了多种遗传方式外，还有许多与 CMT 相关的基因，反映了这种疾病的异质性。下一代测序（NGS）扩大并简化了 CMT 相关的基因/分子的诊断产量，这对于提供当前和未来靶向疾病修正治疗方案的基础至关重要。针对疾病修正治疗的大量研究关注最常见的遗传突变（,,, 和 ）。在这篇综述中，我们重点介绍了这些 CMT 亚型的临床背景、分子理解和治疗研究，同时也讨论了与其余较少见的 CMT 亚型相关的治疗研究。
