Top 10 Clinical Pearls in Inherited Neuropathies.

IF 1.8 4区医学 Q3 CLINICAL NEUROLOGY

Seminars in Neurology Pub Date : 2024-10-15 DOI:10.1055/s-0044-1791520

Ruchee Patel, Bipasha Mukherjee-Clavin

引用次数: 0

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.

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遗传性神经病的十大临床珍珠。

遗传性神经病是神经科医生，尤其是神经肌肉专科医生必须熟悉的一系列临床和遗传异质性神经病。它们包括夏科-玛丽-牙病（Charcot-Marie-Tooth disease）和 hATTRV 多发性神经病（hATTRV polyneuropathy），前者很常见，但目前缺乏针对性治疗；后者很罕见，但有改变疾病的基因疗法。本文以新出现的基因和治疗方法为重点，介绍了遗传性神经病临床诊断和管理的最新进展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Seminars in Neurology 医学-临床神经学

CiteScore

4.60

自引率

3.70%

发文量

审稿时长

6-12 weeks

期刊介绍： Seminars in Neurology is a review journal on current trends in the evaluation, diagnosis, and treatment of neurological diseases. Areas of coverage include multiple sclerosis, central nervous system infections, muscular dystrophy, neuro-immunology, spinal disorders, strokes, epilepsy, motor neuron diseases, movement disorders, higher cortical function, neuro-genetics and neuro-ophthamology. Each issue is presented under the direction of an expert guest editor, and invited contributors focus on a single, high-interest clinical topic. Up-to-the-minute coverage of the latest information in the field makes this journal an invaluable resource for neurologists and residents.