title: Progressive gray matter changes in patients with congenital central hypoventilation syndrome.
abstract: BACKGROUND
  Patients with congenital central hypoventilation syndrome (CCHS) show brain injury in areas that control chemosensory, autonomic, motor, cognitive, and emotion functions, which are deficient in the condition. Many of these abnormal characteristics are present from the neonatal period; however, it is unclear whether tissue injury underlying the characteristics progressively worsens with time. We hypothesized that several brain areas in subjects with CCHS would show increased gray matter volume loss over time.
  
  
  METHODS
  We collected high-resolution T1-weighted images twice (4 years apart) from seven subjects with CCHS (age at first study, 16.1 ± 2.7 years; four males) and three control subjects (15.9 ± 2.1 years; three males) using a 3.0-Tesla magnetic resonance imaging (MRI) scanner, and evaluated regional gray matter volume changes with voxel-based morphometry (VBM) procedures.
  
  
  RESULTS
  Multiple brain sites in CCHS, including frontal, prefrontal, insular, and cingulate cortices; caudate nuclei and putamen; ventral temporal and parietal cortices; and cerebellar cortices showed significantly reduced gray matter volume over time. Only limited brain areas, including sensory, temporal, and medullary regions, emerged with increased gray matter at the later age.
  
  
  CONCLUSIONS
  Patients with CCHS show reduced gray matter volume with age progression in autonomic, respiratory, and cognitive regulatory areas, an outcome that may contribute to deterioration of functions found in the syndrome with increasing age.
authors.affiliation: Department of Neurobiology, David Geffen School of Medicine at UCLA, University of California at Los Angeles, Los Angeles, California, USA.
authors.forename: Rajesh
authors.initials: R
authors.lastname: Kumar
authors.forename: Marlyn S
authors.initials: MS
authors.lastname: Woo
authors.forename: Paul M
authors.initials: PM
authors.lastname: Macey
authors.forename: Mary A
authors.initials: MA
authors.lastname: Woo
authors.forename: Ronald M
authors.initials: RM
authors.lastname: Harper
mesh_terms: D000293:Adolescent; D000375:Aging / Q000473:pathology*; D001341:Autonomic Nervous System / Q000473:pathology; D016022:Case-Control Studies; D002421:Caudate Nucleus / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D018450:Disease Progression; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006179:Gyrus Cinguli / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010487:Periaqueductal Gray / Q000473:pathology*; D020182:Sleep Apnea, Central / Q000151:congenital* / Q000473:pathology*; D055815:Young Adult