A summary of neuroimaging findings of affected members of the pedigree
| Patient | II:4 | II:5 |
|---|---|---|
| Age at imaging (years) | 61 | 64 |
| MRI sequence | Axial and sagittal T1 SE, T2 TSE Coronal FLAIR | Axial and sagittal T1 SE, T2 TSE Coronal FLAIR |
| Cerebrospinal fluid spaces | Prominent 4th ventricle and posterior fossa subarachnoid space | Prominent 4th ventricle and posterior fossa subarachnoid space |
| Vermis and cerebellar atrophy | Mild | Mild to moderate |
| Pons atrophy | Mild | Mild |
| Posterior cranial fossa size | Normal | Normal |
| Retrocerebellar cyst | None | None |
| White matter changes | Linear and punctate subcortical T2W hyperintensities (++) | Linear and punctate subcortical T2W hyperintensities (+) |
FLAIR, fluid attenuated inversion recovery; TSE, turbo spin echo, SE, spin echo.