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遗传性神经病的十大临床要点

Top 10 Clinical Pearls in Inherited Neuropathies.

作者信息

Patel Ruchee, Mukherjee-Clavin Bipasha

机构信息

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

出版信息

Semin Neurol. 2025 Feb;45(1):88-98. doi: 10.1055/s-0044-1791520. Epub 2024 Oct 15.

Abstract

The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot-Marie-Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies.

摘要

遗传性神经病是一类临床和遗传异质性的神经病,神经科医生,尤其是神经肌肉专科医生必须熟悉这类疾病。它们包括常见但目前缺乏靶向治疗的夏科-马里-图斯病,以及罕见但有疾病修饰基因疗法的遗传性转甲状腺素蛋白淀粉样变多发性神经病。本文聚焦于新出现的基因和治疗方法,提供了遗传性神经病临床诊断和管理的最新进展。

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