Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation

Journal of Applied Physiology
Michael S CarrollDebra E Weese-Mayer

Abstract

Respiratory and autonomic disorders of infancy, childhood, and adulthood are a group of disorders that have varying presentation, combined with a range of severity of respiratory control and autonomic nervous system dysfunction. Within this group, congenital central hypoventilation syndrome and rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, exhibit the greatest respiratory control deficits, requiring supported ventilation as a mainstay of care. The discovery of the key role of the paired-like homeobox 2B gene in autonomic nervous system development, along with the identification of paired-like homeobox 2B gene mutations causing congenital central hypoventilation syndrome, has led to a fruitful dialog between basic scientists and physician-scientists, producing an explosion of knowledge regarding genotype-phenotype correlations in this disorder, as well as important animal models of chemosensory regulation deficit. Though the etiology of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation is still to be determined, recent studies have begun to carefully delineate the phenotype, suggesting that it too may provide fertile ground for resea...Continue Reading

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Citations

Feb 13, 2010·Journal of Applied Physiology·Jay B Dean, Eugene E Nattie
Oct 11, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Sheng WangDouglas A Bayliss
Jul 6, 2010·Respiratory Physiology & Neurobiology·Pallavi P PatwariDebra E Weese-Mayer
Mar 24, 2010·Respiratory Physiology & Neurobiology·Christo Goridis, Jean-François Brunet
Aug 26, 2010·The Journal of Comparative Neurology·Patrice G GuyenetDouglas A Bayliss
Dec 16, 2011·Pediatric Pulmonology·Michael S CarrollDebra E Weese-Mayer
May 23, 2013·Respiratory Physiology & Neurobiology·N Ramanantsoa, J Gallego
Jan 2, 2014·Journal of Applied Physiology·Michael S CarrollDebra E Weese-Mayer
Jun 11, 2014·Current Opinion in Pediatrics·Pallavi P Patwari, Lisa F Wolfe
Jan 1, 2014·Orphanet Journal of Rare Diseases·Ha TrangUNKNOWN European Central Hypoventilation Syndrome Consortium

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