Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, United States.
Handb Clin Neurol. 2023;195:609-617. doi: 10.1016/B978-0-323-98818-6.00009-1.
The hereditary neuropathies, collectively referred as Charcot-Marie-Tooth disease (CMT) and related disorders, are heterogeneous genetic peripheral nerve disorders that collectively comprise the commonest inherited neurological disease with an estimated prevalence of 1:2500 individuals. The field of hereditary neuropathies has made significant progress in recent years with respect to both gene discovery and treatment as a result of next-generation sequencing (NGS) approach. These investigations which have identified over 100 causative genes and new mutations have made the classification of CMT even more challenging. Despite so many different mutated genes, the majority of CMT forms share a similar clinical phenotype, and due to this phenotypic homogeneity, genetic testing in CMT is increasingly being performed through the use of NGS panels. The majority of patients still have a mutation in one the four most common genes (PMP22 duplication-CMT1A, MPZ-CMT1B, GJB1-CMTX1, and MFN2-CMT2A). This chapter focuses primarily on these four forms and their potential therapeutic approaches.
遗传性周围神经病，统称为夏科-马里-图什病（CMT）和相关疾病，是异质性遗传周围神经疾病，共同构成最常见的遗传性神经疾病，估计患病率为每 2500 人中有 1 人患病。由于下一代测序（NGS）方法，遗传性周围神经病领域在基因发现和治疗方面都取得了重大进展。这些研究已经确定了超过 100 个致病基因和新突变，使 CMT 的分类更加具有挑战性。尽管有如此多不同的突变基因，但大多数 CMT 形式具有相似的临床表型，并且由于这种表型的同质性，CMT 的基因检测越来越多地通过使用 NGS 面板进行。大多数患者仍然存在四种最常见基因之一的突变（PMP22 重复-CMT1A、MPZ-CMT1B、GJB1-CMTX1 和 MFN2-CMT2A）。本章主要关注这四种形式及其潜在的治疗方法。
