Diego Alzate-Correa, Jillian Mei-Ling Liu, Mikayla Jones, Talita M Silva, Michele Joana Alves, Elizabeth Burke, Jessica Zuñiga, Behiye Kaya, Giuliana Zaza, Mehmet Tahir Aslan, Jessica Blackburn, Marina Y Shimada, Silvio A Fernandes-Junior, Lisa A Baer, Kristin I Stanford, Amber Kempton, Sakima Smith, Caroline C Szujewski, Abby Silbaugh, Jean-Charles Viemari, Ana C Takakura, Alfredo J Garcia, Thiago S Moreira, Catherine M Czeisler, José J Otero
Congenital central hypoventilation syndrome (CCHS) represents a rare genetic disorder usually caused by mutations in the homeodomain transcription factor PHOX2B. Some CCHS patients suffer mainly from deficiencies in CO2 and/or O2 respiratory chemoreflex, whereas other patients present with full apnea shortly after birth. Our goal was to identify the neuropathological mechanisms of apneic presentations in CCHS. In the developing murine neuroepithelium, Phox2b is expressed in three discrete progenitor domains across the dorsal-ventral axis, with different domains responsible for producing unique autonomic or visceral motor neurons...
January 2021: Brain Pathology