Fig. 3

Clinical features of patients with ARSACS. a–c The special phenotypes of ARSACS: pes cavus (a), flexion deformity of fingers in case 4 (b) and abnormality of dentition in case 1 (c). d–f Classic brain magnetic resonance images in case 2. d Sagittal T2 sequence shows thinning of the corpus callosum (red arrow), superior vermian atrophy (yellow arrow), and bulky pons (blue arrow); e axial T2 shows bilateral pontine linear hypointense lesions (arrow); f axial T2 shows hyperintensities around the thalamus (arrows). g–k Typical retinal findings in case 4: Fundus photographs of the right (g) and left eyes (j) show yellow streaks of hypermyelinated fibers radiating from the edges of the optic disc; ocular coherence tomography imaging of the right (h) and left eyes (i) show thickened retinal nerve fiber layer (RNFL) (the yellow areas); k statistical graph of OCT showing thickening of the RNFL. The black line indicates oculus dexter (OD), that is, the right eye; the dotted line indicates oculus sinister (OS), the left eye. The green band represents the 5%–95% range of the normative data. (Quadrants: TEMP temporal, SUP superior, NAS nasal, INF inferior)