Charcot-Marie-Tooth 病：来自意大利大型神经肌肉中心的经验。

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

机构信息

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, via Consolare Valeria 1, 98125, Messina, ME, Italy.

Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Via S. Francesco, 22, 37129, Verona, VR, Italy.

出版信息

Neurol Sci. 2020 May;41(5):1239-1243. doi: 10.1007/s10072-019-04219-1. Epub 2020 Jan 4.

DOI:10.1007/s10072-019-04219-1

PMID:31902012

Abstract

INTRODUCTION

Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease. Thanks to the advances of the latest generation sequencing, more than 80 causative genes have been reported to date.

METHODS

In this retrospective, observational study, we have analyzed clinical, electrophysiological, and genetic data of CMT patients in care at Neuromuscular Center of Messina University Hospital, Messina, Italy, for at least 22 years (from 1994 to 2016). Our center is the only reference center for genetic neuropathies in Sicily and in the southern part of Calabria.

RESULTS

We reviewed the clinical records of 566 patients with the aim to evaluate how many patients received a genetic diagnosis and the distribution of the genetic subtypes. About 352/566 (62.19%) received a genetic diagnosis. The most frequent genetic diagnoses were CMT1A/PMP22 duplication (51.13%), followed by HNPP/PMP22 deletion (15.05%), CMT1B/MPZ mutation (10.22%), CMTX/GJB1 mutation (9.37%), and CMT2F/HSPB1 (4%). Other rare mutations included MFN2 mutation (n. 8 pts), BSCL2 mutation (n.8 pts), PMP22 point mutation (n.7 pts), GDAP1 mutation (n.4 pts), GARSmutation (n. 2 pts), TRPV4 mutation (n. 2 pts), LITAF mutation (n.1 pt), and NEFL mutation (n. 1 pt).

CONCLUSIONS

Our study provides further data on frequency of CMT genes, subtypes in a wide Mediterranean area and contributes to help clinicians in addressing the genetic testing workup.

摘要

简介

Charcot-Marie-Tooth (CMT) 病是最常见的遗传性神经肌肉疾病。由于新一代测序技术的进步，迄今为止已报道了 80 多个致病基因。

方法

在这项回顾性、观察性研究中，我们分析了意大利墨西拿大学医院神经肌肉中心接受治疗的 CMT 患者的临床、电生理和基因数据，这些患者的病史至少有 22 年（1994 年至 2016 年）。我们中心是西西里岛和卡拉布里亚南部遗传性神经病变的唯一参考中心。

结果

我们回顾了 566 名患者的临床记录，目的是评估有多少患者接受了基因诊断以及遗传亚型的分布。约 352/566（62.19%）名患者接受了基因诊断。最常见的基因诊断是 CMT1A/PMP22 重复（51.13%），其次是 HNPP/PMP22 缺失（15.05%）、CMT1B/MPZ 突变（10.22%）、CMTX/GJB1 突变（9.37%）和 CMT2F/HSPB1（4%）。其他罕见突变包括 MFN2 突变（n=8 例）、BSCL2 突变（n=8 例）、PMP22 点突变（n=7 例）、GDAP1 突变（n=4 例）、GARS 突变（n=2 例）、TRPV4 突变（n=2 例）、LITAF 突变（n=1 例）和 NEFL 突变（n=1 例）。