Figure 1.
Clinical features. (A) Typical ophthalmological features of a patient with hereditary spastic paraplegia type 7 with PEO: marked ptosis is evident in primary gaze (i); extraocular motility in cardinal directions of gaze is mildly reduced, with restriction of upgaze most affected as the patient is asked to look down (ii); up (iii); left (iv); and right (v). (B) T2-weighted MRI images in demonstrating diffuse cerebellar volume loss, in sagittal (i); and transverse-axial (ii) planes.