Skip to main content
eScholarship
Open Access Publications from the University of California

Breathing challenges in Rett Syndrome: Lessons learned from humans and animal models

  • Author(s): Ramirez, JM
  • Ward, CS
  • Neul, JL
  • et al.

Published Web Location

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812329/
No data is associated with this publication.
Abstract

Breathing disturbances are a major challenge in Rett Syndrome (RTT). These disturbances are more pronounced during wakefulness; but irregular breathing occurs also during sleep. During the day patients can exhibit alternating bouts of hypoventilation and irregular hyperventilation. But there is significant individual variability in severity, onset, duration and type of breathing disturbances. Research in mouse models of RTT suggests that different areas in the ventrolateral medulla and pons give rise to different aspects of this breathing disorder. Pre-clinical experiments in mouse models that target different neuromodulatory and neurotransmitter receptors and MeCP2 function within glia cells can partly reverse breathing abnormalities. The success in animal models raises optimism that one day it will be possible to control or potentially cure the devastating symptoms also in human patients with RTT. © 2013.

Many UC-authored scholarly publications are freely available on this site because of the UC Academic Senate's Open Access Policy. Let us know how this access is important for you.

Item not freely available? Link broken?
Report a problem accessing this item