Skip to main content
. 2017 Oct 24;89(17):1821–1828. doi: 10.1212/WNL.0000000000004578

Figure 1. MRI findings in TUBB4A (left) and UFM1 (right) mutated patient with hypomyelination with atrophy of the basal ganglia and cerebellum.

Figure 1

Sagittal T1-weighted (A–D) and axial T2-weighted (E, F) and T1-weighted (G, H) images in a patient with the common dominant c.745 G>A TUBB4A mutation at age 3 years (A, C, E, G) and a patient with the homozygous recessive UFM1 mutation at age 13 months (B, D, F, H). The patient with the common TUBB4A mutation shows a mildly hyperintense white matter signal on T1-weighted (C, G) and T2-weighted (E) images, indicating a moderate lack of myelin. In the UFM1-mutated patient, the white matter T1 signal is hypointense, indicating a profound lack of myelin (D, H). This patient also shows mild cerebral atrophy (F, H). Both patients have a mild cerebellar atrophy (A–D), most notable at the vermis (A, B). In both patients, there is no putamen visible and there is no visible lesion in this region (arrowheads in E–H). In the TUBB4A-mutated patient, the caudate nucleus has a normal signal (arrow in E). In the UFM1-mutated patient, the caudate nucleus is atrophic and the lateral part of the head has an abnormal hyperintense T2 signal (arrow in F) and hypointense T1 signal (arrow in H).