Video 1
The clinical findings (generalized chorea, gaze impersistence, tongue protrusion, and ataxia) in patient carrying pathogenic variant in ARSA gene (Case 1).
Figure 1
Bilateral symmetrical T2-weighted/FLAIR hyperintensities, together with global brain atrophy in patient carrying pathogenic variant in ARSA gene (Case 1).
Video 2
The clinical findings (dysarthria, mild head tremor, facial grimacing, anterocollis, dystonia of the hands and feet with mild generalized chorea mainly affecting the trunk) in patient carrying pathogenic variants in L2HGDH gene (Case 2).
Figure 2
T2-weighted hyperintensity involving the subcortical white matter, globus pallidus, and dentate nucleus of the cerebellum in patient carrying pathogenic variant in L2HGDH gene (Case 2).
Figure 3
Article selection flow chart. L2HGA, L-2-hydroxiglutaric aciduria; MLD, Metachromatic Leukodystrophy.