Table 2 Summary of the quantitative neuroimaging findings in Wolfram syndrome patients
Reference | Neuroimaging findings | Analysis type |
|---|---|---|
Brain volumes | ||
 Hershey et al. 2012 a | - ↓ Intracranial and whole brain volume |  |
- ↓ brainstem (midbrain, pons, and medulla) volumes; most striking in pons | ROI | |
- ↓ GM volume in the cerebellum. | VBM | |
- ↓ WM volume in the cerebellum, brain stem, and subcortex | VBM | |
 Lugar et al. 2016 a | - ↓ total cortical WM and total subcortical GM volumes |  |
- ↓ volume in ventral and dorsal pons, midbrain, medulla, cerebellar WM and GM, thalamus and pallidum | ROI | |
- ↑ amygdala volume | ROI | |
 Lugar et al. 2019 a | - WM volumes were stable (OR) or decreasing (brainstem and ventral pons) | ROI, VBM |
- GM volumes were decreasing in thalamus and cerebellar cortex | ROI, VBM | |
Cortical thickness/cortical volumes | ||
 Hershey et al. 2012 | - ↓ cortical thickness in pre-central region, lingual region, and two rostral middle frontal region |  |
 Lugar et al. 2016 | - ↓ cortical thickness and cortical volume in primary and secondary visual cortex; higher cortical volume and surface area in the primary and secondary auditory cortex | ROI |
- ↓ peri-calcarine region surface area, thickness, and volume; ↓ volume in parahippocampal region; ↑ temporal lobe regions surface area and volume; ↑ rostral middle frontal volume and thickness | QDEC vertex-wise cortical metrics | |
Diffusion MRI and white matter integrity | ||
 Hershey et al. 2012 | - ↓ FA in the cerebellum and OR + ↓ MD in the cerebellum | ROI |
- Widespread ↓ FA and AD, mostly in the brainstem, cerebellum and OR | TBSS | |
 Lugar et al. 2016 | - ↓ FA and ↑ RD in OR, MCP, IFOF, and AR; and ↑ AD in OR | Tractography |
- ↓ FA (CST, IFOF, OR, CC); ↑ RD (MCP, CST, ILF, OR, SLF); ↑ AD (MCP, IFOF, ILF, ALIC) | TBSS | |