MRI findings

A. Cerebellar white matter T₁-weighted signal that is isointense or mildly hyper- or hypointense relative to gray matter structures; cerebellar atrophy prominently affects the vermis. There are no specific signal changes to the brain stem or dentate nucleus that could help differentiate TUBB4A-related leukodystrophy from other hypomyelinating leukodystrophies.

B. Progressive atrophy of the basal ganglia predominantly involving the neostriatum (i.e., the putamen and caudate nucleus), often with a significant decrease in size of the putamen (thin white arrow) and to a lesser degree the head of the caudate. The thalamus and globus pallidus are typically spared.

C. Diffuse cerebral hypomyelination manifesting as mild T₂-weighted hyperintensity involving the supratentorial white matter (thick white arrow)

D. Diffuse cerebral hypomyelination typically manifesting as isointense or mild T₁-weighted hyperintensity involving the supratentorial white matter (thick white arrow)

E. Cerebellar white matter T₁-weighted signal that is isointense or mildly hyper- or hypointense relative to gray matter structures. Although cerebellar atrophy prominently affecting the vermis is common (dotted line arrow), it is not an obligatory finding.