Table 4 Radiologic features of mt-aaRS-related leukodystrophies
| LBSL (n = 128) % of cases reported | LTBL (n = 21) % of cases reported | AARS2 (n = 16) % of cases reported | |
|---|---|---|---|
| Imaging pattern | |||
| Asymmetric | 0 | 0 | 87 |
| Symmetric | 100 | 100 | 13 |
| Distribution of T2/FLAIR signal abnormalities | |||
| Cortical WM | 100 (frontal, parietal or diffuse predominance) | 100 (predominantly diffuse) | 100 (fronto-parietal predominance) |
| Periventricular WM | 100 | 9 (periventricular rim usually spared) | 87 |
| Subcortical WM | 100 | 61 | 7 (rare subcortical U-fiber involvement) |
| Corpus callosum | 79 | 95 | 100 |
| Pyramidal tracts | 99 | 14 | 81 |
| Brainstem | 100 (medullary tract predominance) | 95 | 63 |
| Cerebellum | 97 | 83 | 27 |
| Basal ganglia | 8 (caudate or putamen) | 62 (caudate, putamen, or globus pallidus) | 39 (caudate) |
| Thalamus | 0 | 100 | Not reported |
| Lesion characteristics | |||
| Diffusion restriction of any tract | 82 | 38 | 87 |
| Atrophy | 3 (adult patients) | 27 | 77 |
| Elevated lactate on MR spectroscopy | 83 | 71 | 20 |