Patients with late-onset Tay-Sachs disease (LOTS) show characteristic abnormalities of saccades but normal afferent visual systems. Hypometria, transient decelerations, and premature termination of saccades suggest disruption of a "latch circuit" that normally inhibits pontine omnipause neurons, permitting burst neurons to discharge until the eye movement is completed. These measurable abnormalities of saccades provide a means to evaluate the effects of novel treatments for LOTS.

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Objectives: To measure vertical and horizontal responses to optokinetic (OK) stimulation and investigate directional abnormalities of quick phases in progressive supranuclear palsy (PSP). Methods: Saccades and OK nystagmus were studied in six PSP patients, five with Parkinson's disease (PD), and 10 controls. The OK stimulus subtended 72˚horizontally, 60˚vertically, consisted of black and white stripes, and moved at 10-50˚/s. Results: All PSP patients showed slowed voluntary vertical saccades and nystagmus quick phases compared with PD or controls. Small, paired, horizontal saccadic intrusions (SWJ) were more frequent and larger in PSP during fixation. Vertical saccades were transiently faster at the time of SWJ and horizontal saccades in PSP. During vertical OK nystagmus, small quick phases were often combined with horizontal SWJ in all subjects; in PSP the vector was closer to horizontal. Vertical OK slow phase gain was reduced in PSP but, in most PD patients, was similar to normals. The average position of gaze shifted in the direction of vertical OK stimulus in PSP patients with preserved slow phase responses but impaired quick phases. Conclusions: Vertical OK responses in PSP show impaired slow phase responses, and quick phases that are slowed and combined with SWJ to produce an oblique vector. SWJ facilitate vertical saccades and quick phases in PSP, but it is unclear whether this is an adaptive process or a result of the disease. A large OK stimulus is useful to induce responses that can be quantitatively analysed in patients with limited voluntary range of vertical gaze.

We investigated relationships between saccadic and vergence components of gaze shifts as 10 human subjects switched visual fixation between targets aligned in the midsagittal plane that lay in different vertical directions and at different distances. When fixation was shifted between a higher distant target and a lower near target, peak convergence velocity followed peak vertical saccadic velocity by a median interval of 12 ms. However, when fixation was shifted between a lower distant target and a higher near target, peak convergence velocity followed peak vertical saccadic velocity by a median interval of 76 ms. For the 2 stimulus arrangements, the median intervals by which peak divergence velocity followed the peak vertical saccadic velocity were 4 and 20 ms, respectively. The dissociation interval between the peak velocities of convergence and upward saccades increased with vertical saccade size, required convergence angle, and elevation of the endpoint of the movement. Velocity waveforms of vergence responses were more skewed when peak velocity was closely associated with saccadic peak velocity than when the vergence responses were delayed. Convergence peak velocities did not vary in any consistent pattern, but divergence peak velocities were generally smaller with responses that were delayed. Vergence movements were accompanied by small, high-frequency conjugate oscillations, suggesting that omnipause neurons were inhibited for both types of responses. In conclusion, the present findings indicate that the dynamic properties of horizontal vergence movements depend on the direction and timing of vertical saccades; these findings suggest experimental tests for current models of saccade-vergence interaction.

In this study, the best OK responses were obtained using stripes with lower spatial frequencies and lower stripe speeds (0.4 cyc/deg at 10 deg/s). The dynamic properties of vertical quick phases of nystagmus are similar enough to those of voluntary saccades for OK stimulation to be used as a clinical test of the vertical saccadic system in individuals with voluntary gaze palsy.