Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
Acta Neuropathol
; 130(2): 171-83, 2015 Aug.
Article
em En
| MEDLINE
| ID: mdl-25975378
ABSTRACT
Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem structures developmentally affected in CCHS, we analyzed two postmortem neonatal-lethal cases with confirmed polyalanine repeat expansion (PARM) or Non-PARM (PHOX2B∆8) mutation of PHOX2B. Both human cases showed neuronal losses within the locus coeruleus (LC), which is important for central noradrenergic signaling. Using a conditionally active transgenic mouse model of the PHOX2B∆8 mutation, we found that early embryonic expression (
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Locus Cerúleo
/
Apneia do Sono Tipo Central
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Hipoventilação
Tipo de estudo:
Prognostic_studies
Limite:
Animals
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Humans
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Male
/
Newborn
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article