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Table 4 Radiologic features of mt-aaRS-related leukodystrophies

From: Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination

 LBSL (n = 128)
% of cases reported
LTBL (n = 21)
% of cases reported
AARS2 (n = 16)
% of cases reported
Imaging pattern   
Distribution of T2/FLAIR signal abnormalities   
Cortical WM100 (frontal, parietal or diffuse predominance)100 (predominantly diffuse)100 (fronto-parietal predominance)
Periventricular WM1009 (periventricular rim usually spared)87
Subcortical WM100617 (rare subcortical U-fiber involvement)
Corpus callosum7995100
Pyramidal tracts991481
Brainstem100 (medullary tract predominance)9563
Basal ganglia8 (caudate or putamen)62 (caudate, putamen, or globus pallidus)39 (caudate)
Thalamus0100Not reported
Lesion characteristics   
Diffusion restriction of any tract823887
Atrophy3 (adult patients)2777
Elevated lactate on MR spectroscopy837120