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首页> 外文期刊>Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia >TRPV4 axonal neuropathy spectrum disorder
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TRPV4 axonal neuropathy spectrum disorder

机译：TRPV4轴突神经病谱障碍

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摘要

The TRPV4-axonal neuropathy spectrum is a group of disorders presenting as a predominantly motor axonal peripheral neuropathy, frequently in association with vocal cord paralysis, and occasionally accompanied by sensorineural hearing loss and bladder urgency and incontinence. These disorders show autosomal dominant inheritance, variable disease expression and reduced disease penetrance. TRPV4 encodes a calcium-permeable non-selective cation channel of uncertain biological function. Intriguingly, mutations in this gene also underlie a family of autosomal dominant, short-stature skeletal dysplasias. This article reviews the clinical features of the neuropathy spectrum, the emerging neuropathy/skeletal dysplasia overlap disorders and the present knowledge of the impact of mutations in this gene on channel function.
机译：TRPV4轴突神经病谱系一类疾病，主要表现为运动性轴突周围神经病，常伴有声带麻痹，并偶尔伴有感觉神经性听力减退以及膀胱尿急和尿失禁。这些疾病表现出常染色体显性遗传，疾病表达变化和疾病渗透率降低。 TRPV4编码具有不确定的生物学功能的钙可渗透的非选择性阳离子通道。有趣的是，该基因的突变也是常染色体显性，矮身形骨骼发育不良家族的基础。本文综述了神经病变谱的临床特征，新出现的神经病变/骨骼发育异常重叠疾病以及该基因突变对通道功能的影响的当前知识。

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