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Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease
E De Vita1, G R Ridgway, R I Scahill
1Lysholm Department of Neuroradiology.
Background And Purpose:
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.
Materials And 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.
Insights
This study reveals gray matter and white matter changes in inherited prion disease (6-OPRI mutation) affecting motor and cognitive brain regions. Advanced MRI techniques show distinct patterns of tissue alteration, enhancing understanding of prion disease.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Inherited prion diseases are a significant cause of early-onset dementia.
- These diseases account for over 15% of human prion cases.
Purpose of the Study:
- To investigate cerebral volumetric and microstructural changes in a specific inherited prion disease mutation (6-OPRI).
- To combine voxel-based morphometry (VBM) with voxel-based analysis (VBA) of MTR and MD.
Main Methods:
- VBM and VBA of MTR and MD were performed on 16 healthy controls and 9 patients with the 6-OPRI mutation.
- Analysis of covariance was used, with diagnostic grouping, age, and intracranial volume as covariates.
Main Results:
- Patients showed reduced gray matter volume in the basal ganglia, perisylvian cortex, lingual gyrus, and precuneus.
- MTR reduction and MD increases were more widespread than VBM changes in cortical areas, but absent in the basal ganglia.
Conclusions:
- Observed gray matter and white matter changes correlate with impaired motor and cognitive functions in 6-OPRI patients.
- Differences in anatomic distribution between VBM, MTR-VBA, and MD-VBA suggest regional variations in pathophysiology.
- Multiparameter MRI analysis advances the understanding of prion disease pathophysiology.
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