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.
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