title: Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C.
abstract: OBJECTIVE
  Cerebellar Purkinje cells are known to be highly vulnerable to neuronal pathology in Niemann-Pick type C (NPC), a disease where widespread white matter changes have also been reported. We sought to determine the relationship between white and grey matter cerebellar changes and clinical variables in NPC.
  
  
  METHODS
  Ten adult patients with NPC were matched to control subjects (n=27) on age and gender. Patients were rated for symptom duration and severity, degree of ataxia, and were assessed for saccadic eye measures. Cerebellar white and grey matter volumes were automatically segmented using the Freesurfer software package.
  
  
  RESULTS
  NPC patients had a significant reduction in both grey and white matter volumes. Volume did not correlate with symptom duration or severity, but did correlate with saccadic gain and ataxia measures.
  
  
  CONCLUSIONS
  Both cerebellar grey and white matter volume decreases in adult NPC, and these changes are associated with impairments in saccadic gain and in motor control.
authors.affiliation: Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, Australia. mark.walterfang@mh.org.au
authors.forename: Mark
authors.initials: M
authors.lastname: Walterfang
authors.forename: Larry A
authors.initials: LA
authors.lastname: Abel
authors.forename: Patricia
authors.initials: P
authors.lastname: Desmond
authors.forename: Michael C
authors.initials: MC
authors.lastname: Fahey
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Bowman
authors.forename: Dennis
authors.initials: D
authors.lastname: Velakoulis
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D052556:Niemann-Pick Disease, Type C / Q000473:pathology* / Q000503:physiopathology; D012438:Saccades