Dilated basilar arteries in patients with congenital central hypoventilation syndrome

Kumar, Rajesh; Nguyen, Haidang D.; Macey, Paul M.; Woo, Mary A.; Harper, Ronald M.

doi:10.1016/j.neulet.2009.10.024

Cited by 14 publications

(10 citation statements)

References 36 publications

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“…That consideration is made more complex by the injury to medullary and raphe systems in OSA, with raphe serotonergic neurons especially playing a significant role in mediation of CO 2 effects on the vasculature [36]. We earlier showed in a human model of CO 2 dysregulation, congenital central hypoventilation syndrome, that the vasculature was severely affected, particularly in the basilar arteries near the damaged raphe in those patients [21]. The medullary injury we previously reported for OSA may also interfere with CO 2 dilatory effects [20], although that possibility is entirely speculative.…”

Section: Discussionmentioning

confidence: 99%

Regional cerebral blood flow alterations in obstructive sleep apnea

Yadav

Kumar

Macey

et al. 2013

Neuroscience Letters

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Obstructive sleep apnea (OSA) is a condition characterized by upper airway muscle atonia with continued diaphragmatic efforts, resulting in repeated airway obstructions, periods of intermittent hypoxia, large thoracic pressure changes, and substantial shifts in arterial pressure with breathing cessation and resumption. The hypoxic exposure and hemodynamic changes likely induce the structural and functional deficits found in multiple brain areas, as shown by magnetic resonance imaging (MRI) procedures. Altered cerebral blood flow (CBF) may contribute to these localized deficits; thus, we examined regional CBF, using arterial spin labeling procedures, in 11 OSA (age, 49.1±12.2 years; 7 male) and 16 control subjects (42.3±10.2 years; 6 male) with a 3.0-Tesla MRI scanner. CBF maps were calculated, normalized to a common space, and regional CBF values across the brain quantified. Lowered CBF values emerged near multiple bilateral brain sites in OSA, including the corticospinal tracts, superior cerebellar peduncles, and pontocerebellar fibers. Lateralized, decreased CBF appeared near the left inferior cerebellar peduncles, left tapetum, left dorsal fornix/stria terminalis, right medial lemniscus, right red nucleus, right midbrain, and midline pons. Regional CBF values in OSA are significantly reduced in major sensory and motor fiber systems and motor regulatory sites, especially in structures mediating motor coordination; those reductions are often lateralized. The asymmetric CBF declines in motor regulatory areas may contribute to loss of coordination between upper airway and diaphragmatic musculature, and lead to further damage in the syndrome.

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Section: Discussionmentioning

confidence: 99%

Regional cerebral blood flow alterations in obstructive sleep apnea

Yadav

Kumar

Macey

et al. 2013

Neuroscience Letters

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“…In all three sleep disordered conditions of OSA, HF, and CCHS, injury includes the raphé system (Woo et al 2009; Kumar et al 2011c; Kumar et al 2008b), which contains serotonergic neurons that play a significant role in pain and modulation of upper airway musculature (Brink et al 2006; Kubin et al 1992). The consequences to raphé injury in CCHS are notable in the vasculature, with exceptionally dilated basilar arteries (Kumar et al 2009d). …”

Section: Rostral Affective Thermal and Hormonal Sitesmentioning

confidence: 99%

Affective Brain Areas and Sleep-Disordered Breathing

Harper

Kumar

Macey

et al. 2014

Progress in Brain Research

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The neural damage accompanying the hypoxia, reduced perfusion, and other consequences of sleep-disordered breathing found in obstructive sleep apnea, heart failure (HF), and congenital central hypoventilation syndrome (CCHS), appears in areas that serve multiple functions, including emotional drives to breathe, and involve systems that serve affective, cardiovascular, and breathing roles. The damage, assessed with structural magnetic resonance imaging (MRI) procedures, shows tissue loss or water content and diffusion changes indicative of injury, and impaired axonal integrity between structures; damage is preferentially unilateral. Functional MRI responses in affected areas also are time- or amplitude- distorted to ventilatory or autonomic challenges. Among the structures injured are the insular, cingulate, and ventral medial prefrontal cortices, as well as cerebellar deep nuclei and cortex, anterior hypothalamus, raphé, ventrolateral medulla, basal ganglia and, in CCHS, the locus coeruleus. Raphé and locus coeruleus injury may modify serotonergic and adrenergic modulation of upper airway and arousal characteristics. Since both axons and gray matter show injury, the consequences to function, especially to autonomic, cognitive, and mood regulation, are major. Several affected rostral sites, including the insular and cingulate cortices and hippocampus, mediate aspects of dyspnea, especially in CCHS, while others, including the anterior cingulate and thalamus, participate in initiation of inspiration after central breathing pauses, and the medullary injury can impair baroreflex and breathing control. The ancillary injury associated with sleep-disordered breathing to central structures can elicit multiple other distortions in cardiovascular, cognitive, and emotional functions in addition to effects on breathing regulation.

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“…Impaired vascular control can result in pathological changes in regional central nervous system tissue. An example of that potential is found in the vasculature in CCHS patients, with the basilar artery showing substantial dilation in a small cohort of patients (Kumar et al, 2009c), an outcome that can significantly alter perfusion to supplied tissue.…”

Section: Overlap Of Brain Areas Showing Deficits and Phox2b Exprementioning

confidence: 99%

Congenital central hypoventilation syndrome and the PHOX2B gene: A model of respiratory and autonomic dysregulation

Patwari¹,

Carroll²,

Rand³

et al. 2010

Respiratory Physiology & Neurobiology

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The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndrome (CCHS). Individuals with CCHS typically present in the newborn period with alveolar hypoventilation during sleep and often during wakefulness, altered respiratory control including reduced or absent ventilatory responses to hypercarbia and hypoxemia, and autonomic nervous system (ANS) dysregulation; however, a subset of individuals present well into adulthood. Thermoregulation is altered and perception of shortness of breath is absent, but voluntary breathing is retained. Structural and functional magnetic resonance imaging (MRI) and limited post-mortem studies in subjects with CCHS reveal abnormalities in both forebrain and brainstem. MRI changes appear in the hypothalamus (responsible for thermal drive to breathing), posterior thalamus and midbrain (mediating O 2 and oscillatory motor patterns), caudal raphé and locus coeruleus (regulating serotonergic and noradrenergic systems), the lateral medulla, parabrachial pons, and cerebellum (coordinating chemoreceptor and somatic afferent activity with

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Dilated basilar arteries in patients with congenital central hypoventilation syndrome

Cited by 14 publications

References 36 publications

Regional cerebral blood flow alterations in obstructive sleep apnea

Regional cerebral blood flow alterations in obstructive sleep apnea

Affective Brain Areas and Sleep-Disordered Breathing

Congenital central hypoventilation syndrome and the PHOX2B gene: A model of respiratory and autonomic dysregulation

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