Table 4 Radiologic features of mt-aaRS-related leukodystrophies
| Â | LBSL (n = 128) % of cases reported | LTBL (n = 21) % of cases reported | AARS2 (n = 16) % of cases reported |
|---|---|---|---|
Imaging pattern | Â | Â | Â |
Asymmetric | 0 | 0 | 87 |
Symmetric | 100 | 100 | 13 |
Distribution of T2/FLAIR signal abnormalities | Â | Â | Â |
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 | Â | Â | Â |
Diffusion restriction of any tract | 82 | 38 | 87 |
Atrophy | 3 (adult patients) | 27 | 77 |
Elevated lactate on MR spectroscopy | 83 | 71 | 20 |