Fig. 1
From: Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants
Head images of the patients with ELOVL4 variants. A Axial T2-weighted images of Patient 1 show cerebellar and brainstem atrophy as well as the hot cross bun sign in the pons. B The hot cross bun sign is clearly observed in the enlarged images of the pons in (A). C Sagittal T1-weighted image of Patient 1 showing the cerebellar vermis and brainstem atrophy. D Axial T1-weighted images of Patient 2, showing mild cerebellar and brainstem atrophy. E Head computed tomography of Patient 2 showing calcifications in the globus pallidus and dentate nucleus
