Fig. 1

Magnetic Resonance Imaging scans of Patient-1: neuroradiological changes over time. Axial T2 (a, b) and FLAIR-weighted (c) images show slight enlargement of the superior and posterior vermis space (arrow) without signal alteration (asterisks). Axial FLAIR (d) and FSE T2-weighted (e) images show bilateral signal alterations of the striatal nuclei (arrows) and thalami (head-arrows) with reduced diffusivity of the head of the caudate nuclei (arrows) in the diffusion weighted image (f). The second line of MRI images (a1, b1, c1, d1, e1, f1) was performed two years after the first one (a–f). Sagittal (a1) and coronal (b1) T1-weighted images show atrophy of cerebellar vermis, signal alteration of the superior vermis and the initial involvement of cerebellar hemispheres (head-arrows). Sagittal T1-weighted image (a1) also shows a dysmorphic corpus callosum, especially for the hypertrophy of the genu (asterisk). Axial FLAIR-weighted (c1) images show mild cortical hyperintensity of the superior cerebellar vermis. Axial (d1), coronal (f1) FLAIR-weighted and coronal T2-weighted (e1) images show the same signal alterations and lesions in the supratentorial region of the first line ones (a–f), except for a slight reduction in the signal alteration of striatal nuclei, which also appear more swollen (arrows) (d1). A lack of restriction of proton diffusivity is also evident. The third line of MRI images (a2, b2, c2, d2, e2, f2) was performed 2 years after the second one (a1, b1, c1, d1, e1, f1). Sagittal (a2) and coronal (b2) T1-weighted images show the progression of cerebellar atrophy (head-arrows). An increased signal alteration of the superior vermis is evident in axial FLAIR-weighted image (arrow) (c2). (d2, e2, f2) images, compared to the same sequence images in the second line (d1, e1, f1) show no new signal alteration or lesion of the supratentorial region