title: Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study.
abstract: OBJECTIVE
  Voxel-based analysis has suggested that deep gray matter rather than cortical regions is initially affected in adult Niemann-Pick type C. We sought to examine a range of deep gray matter structures in adults with NPC and relate these to clinical variables.
  
  
  METHODS
  Ten adult patients with NPC (18-49 years of age) were compared with 27 age- and sex-matched controls, and subcortical structures were automatically segmented from normalized T1-weighted MR images. Absolute volumes (in cubic millimeters) were generated for a range of deep gray matter structures and were compared between groups and correlated with illness variables.
  
  
  RESULTS
  Most structures were smaller in patients with NPC compared with controls. The thalamus, hippocampus, and striatum showed the greatest and most significant reductions, and left hippocampal volume correlated with symptom score and cognition. Vertex analysis of the thalamus, hippocampus, and caudate implicated regions involved in memory, executive function, and motor control.
  
  
  CONCLUSIONS
  Thalamic and hippocampal reductions may underpin the memory and executive deficits seen in adult NPC. Volume losses in other subcortical regions may also be involved in the characteristic range of motor, psychiatric, and cognitive deficits seen in the disease.
authors.affiliation: Melbourne Neuropsychiatry Centre, University of Melbourne, Melbourne, Australia. mark.walterfang@mh.org.au
authors.forename: M
authors.initials: M
authors.lastname: Walterfang
authors.forename: B
authors.initials: B
authors.lastname: Patenaude
authors.forename: L A
authors.initials: LA
authors.lastname: Abel
authors.forename: H
authors.initials: H
authors.lastname: Kluenemann
authors.forename: E A
authors.initials: EA
authors.lastname: Bowman
authors.forename: M C
authors.initials: MC
authors.lastname: Fahey
authors.forename: P
authors.initials: P
authors.lastname: Desmond
authors.forename: W
authors.initials: W
authors.lastname: Kelso
authors.forename: D
authors.initials: D
authors.lastname: Velakoulis
mesh_terms: D000293:Adolescent; D000328:Adult; D000679:Amygdala / Q000473:pathology; D001921:Brain / Q000473:pathology*; D016022:Case-Control Studies; D002421:Caudate Nucleus / Q000473:pathology; D003071:Cognition / Q000502:physiology; D015331:Cohort Studies; D003342:Corpus Striatum / Q000473:pathology; D003430:Cross-Sectional Studies; D056344:Executive Function / Q000502:physiology; D005260:Female; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D007091:Image Processing, Computer-Assisted / Q000379:methods; D021621:Imaging, Three-Dimensional / Q000379:methods; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008568:Memory / Q000502:physiology; D008875:Middle Aged; D009048:Motor Skills / Q000502:physiology; D052556:Niemann-Pick Disease, Type C / Q000473:pathology*; D009929:Organ Size; D011699:Putamen / Q000473:pathology; D013788:Thalamus / Q000473:pathology; D055815:Young Adult