①A型腓骨肌萎缩症的治疗现状。

IF 2.1 4区 医学 Q3 CLINICAL NEUROLOGY
Hongdan Qi, Xin Wang, Bing Wu, Jing Chen, Gang Zhang
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引用次数: 0

摘要

Charcot-Marie-Tooth病1a型(CMT1A)是遗传性周围神经病变的主要亚型,起源于包含完整外周髓鞘蛋白22 (PMP22)基因的染色体17p11.2-p12中1.5兆碱基(Mb)串联重复。患者通常表现为进行性无力和远端肌肉萎缩,伴有痛觉过敏,肌腱反射减少或缺失,足部畸形。目前的临床管理依赖于多学科的支持治疗。最近针对CMT1A潜在治疗策略的临床前研究集中在纠正PMP22基因剂量失衡上。值得注意的是,PXT3003在缓解症状和减轻神经病变方面已显示出III期临床疗效,有望成为市场上最早的cmt1a靶向药物。基因编辑方法在动物模型中也显示出治疗前景,但脱靶效应仍然令人担忧。此外,诱导多能干细胞(iPSC)技术的快速发展为干细胞治疗铺平了道路,这可能是一种有前途的治疗方法。本文对CMT1A的治疗策略进行综述,旨在为CMT1A的临床治疗提供有价值的参考。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The current status of Charcot-Marie-Tooth disease type 1 A treatment.

Charcot-Marie-Tooth disease type 1 A (CMT1A) is the major subtype of hereditary peripheral neuropathies and arises from a 1.5 megabase (Mb) tandem duplication in chromosome 17p11.2-p12 that contains the complete peripheral myelin protein 22 (PMP22) gene. Patients commonly present with progressive weakness and atrophy of the distal muscles, accompanied by hyperalgesia, decreased or absent tendon reflexes, and foot deformities. Current clinical management relies on multidisciplinary supportive care. Recent preclinical studies targeting potential therapeutic strategies for CMT1A have focused on correcting the gene-dose imbalance of PMP22. Notably, PXT3003 has shown phase III clinical efficacy in relieving symptoms and reducing neuropathy, and is expected to be the earliest CMT1A-targeted drug on the market. Gene editing approaches have also shown therapeutic promise in animal models, but off-target effects remain a concern. In addition, the rapid development of induced pluripotent stem cell (iPSC) technology has paved the way for stem cell therapies, which may be a promising therapeutic approach. This article reviews the existing literature on therapeutic strategies for CMT1A and aims to provide a valuable reference for the clinical treatment of CMT1A.

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来源期刊
Acta neurologica Belgica
Acta neurologica Belgica 医学-临床神经学
CiteScore
4.20
自引率
3.70%
发文量
300
审稿时长
6-12 weeks
期刊介绍: Peer-reviewed and published quarterly, Acta Neurologica Belgicapresents original articles in the clinical and basic neurosciences, and also reports the proceedings and the abstracts of the scientific meetings of the different partner societies. The contents include commentaries, editorials, review articles, case reports, neuro-images of interest, book reviews and letters to the editor. Acta Neurologica Belgica is the official journal of the following national societies: Belgian Neurological Society Belgian Society for Neuroscience Belgian Society of Clinical Neurophysiology Belgian Pediatric Neurology Society Belgian Study Group of Multiple Sclerosis Belgian Stroke Council Belgian Headache Society Belgian Study Group of Neuropathology
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