The cerebral cost of breathing: an FMRI case-study in congenital central hypoventilation syndrome

M Sharman, C Gallea, K Lehongre, D Galanaud… - PloS one, 2014 - journals.plos.org
Certain motor activities-like walking or breathing-present the interesting property of
proceeding either automatically or under voluntary control. In the case of breathing …

fMRI signal changes in response to forced expiratory loading in congenital central hypoventilation syndrome

KE Macey, PM Macey, MA Woo… - Journal of applied …, 2004 - journals.physiology.org
Congenital central hypoventilation syndrome (CCHS) patients show impaired ventilatory
responses to CO2 and hypoxia and reduced drive to breathe during sleep but retain …

Hypoxia reveals posterior thalamic, cerebellar, midbrain, and limbic deficits in congenital central hypoventilation syndrome

PM Macey, MA Woo, KE Macey… - Journal of Applied …, 2005 - journals.physiology.org
Congenital central hypoventilation syndrome (CCHS) patients show deficient respiratory
and cardiac responses to hypoxia and hypercapnia, despite apparently intact arousal …

Short-term cognitive loading deteriorates breathing pattern and gas exchange in adult patients with congenital central hypoventilation syndrome

J Taytard, MC Niérat, C Gand, S Lavault… - ERJ Open …, 2023 - Eur Respiratory Soc
Question Human PHOX2B mutations result in life-threatening sleep-related hypoventilation
(congenital central hypoventilation syndrome, CCHS). Most patients retain ventilatory activity …

Hypercapnic exposure in congenital central hypoventilation syndrome reveals CNS respiratory control mechanisms

RM Harper, PM Macey, MA Woo… - Journal of …, 2005 - journals.physiology.org
Congenital central hypoventilation syndrome (CCHS) patients show impaired ventilatory
responses and loss of breathlessness to hypercapnia, yet arouse from sleep to high CO2 …

Global BOLD MRI changes to ventilatory challenges in congenital central hypoventilation syndrome

PM Macey, JR Alger, R Kumar, KE Macey… - Respiratory physiology …, 2003 - Elsevier
We evaluated global blood oxygen level dependent (BOLD) signal changes in gray and
white matter in 14 congenital central hypoventilation syndrome (CCHS) and 14 control …

Hippocampal volume reduction in congenital central hypoventilation syndrome

PM Macey, CA Richard, R Kumar, MA Woo, JA Ogren… - PLoS …, 2009 - journals.plos.org
Children with congenital central hypoventilation syndrome (CCHS), a genetic disorder
characterized by diminished drive to breathe during sleep and impaired CO2 sensitivity …

Mammillary body and fornix injury in congenital central hypoventilation syndrome

R Kumar, K Lee, PM Macey, MA Woo, RM Harper - Pediatric research, 2009 - nature.com
Congenital central hypoventilation syndrome (CCHS) is accompanied by reduced
ventilatory sensitivity to CO 2 and O 2, respiratory drive failure during sleep, impaired …

Neuroanatomic deficits in congenital central hypoventilation syndrome

R Kumar, PM Macey, MA Woo, JR Alger… - Journal of …, 2005 - Wiley Online Library
Abstract Congenital Central Hypoventilation Syndrome (CCHS) patients exhibit
compromised autonomic regulation, reduced breathing drive during sleep, diminished …

Does the supplementary motor area keep patients with Ondine's curse syndrome breathing while awake?

L Tremoureux, M Raux, AL Hudson… - PLoS …, 2014 - journals.plos.org
Background Congenital central hypoventilation syndrome (CCHS) is a rare neuro-
respiratory disorder associated with mutations of the PHOX2B gene. Patients with this …