Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

2003 ◽  
Vol 123A (3) ◽  
pp. 267-278 ◽  
Author(s):  
Debra E. Weese-Mayer ◽  
Elizabeth M. Berry-Kravis ◽  
Lili Zhou ◽  
Brion S. Maher ◽  
Jean M. Silvestri ◽  
...  
Keyword(s):  
Nervous System ◽  
Autonomic Nervous System ◽  
Congenital Central Hypoventilation Syndrome ◽  
Autonomic Nervous ◽  
Central Hypoventilation ◽  
Embryologic Development ◽  
Hypoventilation Syndrome ◽  
Syndrome Analysis

Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation

2010 ◽  
Vol 108 (4) ◽  
pp. 979-988 ◽  
Author(s):  
Michael S. Carroll ◽  
Pallavi P. Patwari ◽  
Debra E. Weese-Mayer
Keyword(s):  
Nervous System ◽  
Autonomic Nervous System ◽  
Respiratory Control ◽  
Rapid Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Autonomic Dysregulation ◽  
Hypothalamic Dysfunction ◽  
Autonomic Nervous ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

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 research that both advances our knowledge and improves patient care.

scholarly journals Development of the Autonomic Nervous System: Clinical Implications

2020 ◽  
Vol 40 (05) ◽  
pp. 473-484
Author(s):  
Frances Lefcort
Keyword(s):  
Nervous System ◽  
Autonomic Nervous System ◽  
Developmental Disorders ◽  
Molecular Mechanisms ◽  
Hirschsprung Disease ◽  
Familial Dysautonomia ◽  
Clinical Implications ◽  
Autonomic Nervous ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

AbstractInvestigations of the cellular and molecular mechanisms that mediate the development of the autonomic nervous system have identified critical genes and signaling pathways that, when disrupted, cause disorders of the autonomic nervous system. This review summarizes our current understanding of how the autonomic nervous system emerges from the organized spatial and temporal patterning of precursor cell migration, proliferation, communication, and differentiation, and discusses potential clinical implications for developmental disorders of the autonomic nervous system, including familial dysautonomia, Hirschsprung disease, Rett syndrome, and congenital central hypoventilation syndrome.

Sign in / Sign up

Export Citation Format

Share Document