Fig. 3

Brain and muscle MRI. a, b Sagittal T1-weighted and FLAIR images from patient 5 exhibiting cerebellar atrophy and unspecific white change abnormalities. c, d Sagittal and Axial T2-weighted images from patient 2 evidencing cerebellar atrophy with predominant involvement of superior vermis. e, f Sagittal T1-weighted and Axial T2-weighted images from patient 3 showing thin corpus callosum and bilateral corticospinal tract hyperintensity. g, h Axial T1-weighted images from thighs and legs of patient 3 exhibiting diffuse abnormal signal distributed in a “reticular pattern” trough all muscle groups and important atrophy of anterior, medial, and posterior muscle groups