Table 3.
Overview of MRI changes (sorted by age at first MRI). ALIC anterior limb of internal capsule, CC corpus callosum, cor.rad. corona radiate, c.sem. centrum semiovale, decuss. SCP decussation of superior cerebellar peduncles, dent. ncl. dentate nucleus, front. frontal, hilus hilus of dentate ncl., ICP inferior cerebellar peduncles, myel. delay myelination delay, pall. pallidum, perident. wm peridentate white matter, pyr.tr. pyramidal tract, resid. residual, SCP superior cerebellar peduncles, subcort. subcortical, supratent. wm supratentorial white matter, temp. temporal, vol. volume, yrs. years, ↑T2/↓T1 hyperintensity on T2//hypointensity on T1w images, ~ normal signal compared to controls
| Patient | Age at MRI [yrs] | Basal ganglia | Brainstem/cerebellum | Supratent. wm | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Striatum | Pall. | red ncl. | decuss. SCP | SCP | dent. ncl. | hilus | perident. wm | ICP | Abnormal | pyr. tract | Optic radiation | Other regions | ||
| 1 | 0.5 | ~ | ~ | ~ | ↑T2, ↓T1 | ~ | ~ | ~ | ~ | ~ | yes | myel. delay: subcort., c.sem., cor.rad. | myel. delay | ~ |
| 1.5 | ↑T2, ↓vol. | ~ | ~ | ↑T2, ↓T1 | ↑T2, ↓T1 | ~ | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | yes | ↑T2: subcort., c.sem., cor.rad. | new ↑T2 | ↑T2 c.sem., cor.rad. beyond pyr.tr., subcort. wm | |
| 2 | 0.9 | ↑T2, ↓vol. | ~ | ↑T2 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ~ | ~ | yes | mild ↑T2: subcort., c.sem., cor.rad. | mild ↑T2 | ↑T2 c.sem., cor. rad. beyond pyr. tr. |
| 3 | 1.0 | ↑T2, ↓vol. | ↓T2 | ~ | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | yes | mild ↑T2: subcort., c.sem., cor.rad. | mild ↑T2 | ↑T2 c.sem., cor. rad. beyond pyr. tr. |
| 4 | 1.7 | ↓vol. | ~ | ~ | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | yes | mild ↑T2: subcort., c.sem., cor.rad. | mild ↑T2 | ~ |
| 2.9 | ↑T2, ↓vol. | ↓T2 | ~ | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1, increasing | yes | mild ↑T2: subcort., c.sem., cor.rad. | incr. ↑T2 | new ↑T2 ILF | |
| 5 | 2.0 | ~ | ↓T2 | ↑T2 (right) | ↑T2, ↓T1 | ↑T2, ↓T1 | ~ | ↑T2, ↓T1 | ↑T2, ↓T1 | ↑T2, ↓T1 | yes | ~ | mild ↑T2 | non-specific subcort. ↑T2, front. & temp. wm |
| 4.8 | ↑T2, ↓vol. | ↓T2 | ~ | ~ | residual ↑T2 | ~ | ~ | ~ | residual ↑T2 | yes | ~ | mild ↑T2 | non-specific subcort. ↑T2, front. & temp. wm | |
| 6 | 4.0 | ↓vol., mild↑T2 | ↓T2 | ~ | ~ | ↑T2, ↓T1 | ~ | ~ | ~ | ↑T2, ↓T1 | no | ~ | ~ | ~ |
| 4.9 | ↓vol., mild↑T2 | ↓T2 | ~ | ~ | ↑T2, ↓T1 | ~ | ~ | ~ | ↑T2, ↓T1 | no | ~ | ~ | ~ | |
| 7 | 9.9 | ↑T2, ↓vol. | ~ | ~ | ~ | ↑T2 | ~ | ~ | ~ | ~ | no | ~ | ~ | ~ |
| 13.6 | ↑T2, ↓vol. | ~ | ~ | ↑T2 | ↑T2 | ~ | ~ | ~ | ~ | no | ~ | ~ | ~ | |
| 18.5 | ↑T2, ↓vol. | ~ | ~ | ~ | ~ | ~ | ~ | ~ | ~ | no | ~ | ~ | ~ | |
| 8 | 12.1 | ↑T2, ↓vol. | ~ | ~ | ~ | ↑T2 | ~ | ↑T2, ↓T1 | ~ | ~ | no | ~ | ~ | ~ |
| 14.9 | ↑T2, ↓vol. | ~ | ~ | ~ | ↑T2 | ~ | ↑T2, ↓T1 | ~ | ~ | no | ~ | ~ | ~ | |
| 18.5 | ↑T2, ↓vol. | ~ | ~ | ~ | ↑T2 | ~ | ↑T2, ↓T1 | ~ | ~ | no | ~ | ~ | ~ | |
| 23.5 | ↑T2, ↓vol. | ~ | ~ | ~ | ↑T2 | ~ | ↑T2, ↓T1 | ~ | ~ | no | ~ | ~ | ~ | |
| 9 | 29.0 | ↑T2, ↓vol. | ~ | ~ | ↑T2 | ↑T2 | ~ | ~ | ~ | ~ | yes | mild ↑T2: subcort., c.sem., cor.rad | ~ | ~ |