title: Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease.
abstract: OBJECTIVE
  Inherited prion diseases represent over 15% of human prion cases and are a frequent cause of early onset dementia. The purpose of this study was to define the distribution of changes in cerebral volumetric and microstructural parenchymal tissues in a specific inherited human prion disease mutation combining VBM with VBA of cerebral MTR and MD.
  
  
  METHODS
  VBM and VBA of cerebral MTR and MD were performed in 16 healthy control participants and 9 patients with the 6-OPRI mutation. An analysis of covariance consisting of diagnostic grouping with age and total intracranial volume as covariates was performed.
  
  
  RESULTS
  On VBM, there was a significant reduction in gray matter volume in patients compared with control participants in the basal ganglia, perisylvian cortex, lingual gyrus, and precuneus. Significant MTR reduction and MD increases were more anatomically extensive than volume differences on VBM in the same cortical areas, but MTR and MD changes were not seen in the basal ganglia.
  
  
  CONCLUSIONS
  Gray matter and WM changes were seen in brain areas associated with motor and cognitive functions known to be impaired in patients with the 6-OPRI mutation. There were some differences in the anatomic distribution of MTR-VBA and MD-VBA changes compared with VBM, likely to reflect regional variations in the type and degree of the respective pathophysiologic substrates. Combined analysis of complementary multiparameter MR imaging data furthers our understanding of prion disease pathophysiology.
authors.affiliation: Lysholm Department of Neuroradiology.
authors.forename: E
authors.initials: E
authors.lastname: De Vita
authors.forename: G R
authors.initials: GR
authors.lastname: Ridgway
authors.forename: R I
authors.initials: RI
authors.lastname: Scahill
authors.forename: D
authors.initials: D
authors.lastname: Caine
authors.forename: P
authors.initials: P
authors.lastname: Rudge
authors.forename: T A
authors.initials: TA
authors.lastname: Yousry
authors.forename: S
authors.initials: S
authors.lastname: Mead
authors.forename: J
authors.initials: J
authors.lastname: Collinge
authors.forename: H R
authors.initials: HR
authors.lastname: Jäger
authors.forename: J S
authors.initials: JS
authors.lastname: Thornton
authors.forename: H
authors.initials: H
authors.lastname: Hyare
mesh_terms: D000293:Adolescent; D000328:Adult; D000465:Algorithms; D001921:Brain / Q000473:pathology*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D007090:Image Interpretation, Computer-Assisted / Q000379:methods; D021621:Imaging, Three-Dimensional / Q000379:methods*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D064847:Multimodal Imaging / Q000379:methods; D016254:Mutagenesis, Insertional / Q000235:genetics; D009474:Neurons / Q000473:pathology*; D009929:Organ Size; D017096:Prion Diseases / Q000235:genetics* / Q000473:pathology*; D011328:Prions / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: D011328:Prions
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