TRPV4 axonal neuropathy spectrum disorder.

@article{McEntagart2012TRPV4AN,
  title={TRPV4 axonal neuropathy spectrum disorder.},
  author={Meriel E. McEntagart},
  journal={Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia},
  year={2012},
  volume={19 7},
  pages={927-33}
}
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… CONTINUE READING