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Table 2 Summary of the quantitative neuroimaging findings in Wolfram syndrome patients

From: Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses

ReferenceNeuroimaging findingsAnalysis type
Brain volumes
 Hershey et al. 2012 a- ↓ Intracranial and whole brain volume 
- ↓ brainstem (midbrain, pons, and medulla) volumes; most striking in ponsROI
- ↓ GM volume in the cerebellum.VBM
- ↓ WM volume in the cerebellum, brain stem, and subcortexVBM
 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 pallidumROI
- ↑ amygdala volumeROI
 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 cortexROI, 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 cortexROI
- ↓ peri-calcarine region surface area, thickness, and volume; ↓ volume in parahippocampal region; ↑ temporal lobe regions surface area and volume; ↑ rostral middle frontal volume and thicknessQDEC vertex-wise cortical metrics
Diffusion MRI and white matter integrity
 Hershey et al. 2012- ↓ FA in the cerebellum and OR + ↓ MD in the cerebellumROI
- Widespread ↓ FA and AD, mostly in the brainstem, cerebellum and ORTBSS
 Lugar et al. 2016- ↓ FA and ↑ RD in OR, MCP, IFOF, and AR; and ↑ AD in ORTractography
  1. a Participants enrolled in these three studies overlap (Hershey et al. 2012: 11 Wolfram patient/ 54 type 1 diabetes and healthy controls; Lugar et al. 2016: 21 Wolfram patients/ 50 type 1 diabetes and healthy controls; Lugar et al. 2019: 29 Wolfram patients/ 52 type 1 diabetes and healthy controls)
  2. GM gray matter, WM white matter, ROI region-of-interest, VBM voxel-based morphometry, QDEC Query, Design, Estimate, Contrast, FA Fractional anisotropy, OR optic radiation, MD mean diffusivity, AD axial diffusivity, RD radial diffusivity, TBSS tract-based spatial statistics, MCP middle cerebellar peduncle, IFOF inferior fronto-occipital fasciculus, AR acoustic radiation, CC corpus callosum, CST corticospinal tract, ILF inferior longitudinal fasciculus, SLF superior longitudinal fasciculus, ALIC anterior limb of internal capsule