Evolution of oculomotor and clinical findings in autopsy-proven Richardson syndrome.

Progressive supranuclear palsy (PSP) is a parkinsonian disorder characterized by early, frequent falls, dysphagia, and vertical gaze disturbance.1,2 PSP has recently been split into 3 entities—Richardson syndrome (RS), progressive supranuclear palsy–parkinsonism (PSP-P), and pure akinesia—which correlate with the amount and distribution of tau-protein load in the brain at autopsy.3,4 We report an autopsy-proven case of RS who presented with atypical features; however, slow vertical saccades were evident at presentation. ### Case reports. A 49-year-old man presented complaining of binocular, horizontal diplopia for 1 year. He also reported difficulty “following a sentence” during reading. Because of memory problems, he had relinquished control of family finances to his wife. He denied falls but had stopped playing tennis because he “could not keep up.” He had a flat affect and Mini-Mental State Examination score of 29/30. Corrected visual acuity was 20/20 OD and 20/25 OS; eyelids and pupils were normal. Range of eye movements was full, but with concomitant 6-prism diopter esotropia during distance viewing (divergence insufficiency); convergence was also impaired. Voluntary saccades were slow, especially vertically, but full in range. Smooth pursuit and vestibular eye movements appeared normal. Tendon reflexes and jaw jerk were increased. He could not perform the Luria 3-step test; palmomental reflex was prominent. He could clap exactly 3 times. Neuropsychological testing suggested frontal lobe dysexecutive syndrome with a subcortical component. His mother had developed dementia at age 70, attributed to Alzheimer disease, and apparently showed similar clinical features. Over the next 2 years, he developed greater hyperreflexia with ankle clonus, cervical dystonia, jaw-closing oromandibular dystonia, generalized akinesia, postural instability, visuospatial dysfunction, and inappropriate emotional expression. Repeat neuropsychological testing revealed a global …