ObjectiveA cross-sectional study was performed to evaluate whether quantitative oculomotor measures correlate with disease severity in late-onset GM2 gangliosidosis (LOGG) and assess cognition and sleep as potential early nonmotor features.MethodsTen patients with LOGG underwent quantitative oculomotor recordings, including measurements of the angular vestibulo-ocular reflex (VOR), with results compared to age- and sex-matched controls. Disease severity was assessed by ataxia rating scales. Cognitive/neuropsychiatric features were assessed by the cerebellar cognitive affective syndrome (CCAS) scale, Cerebellar Neuropsychiatric Rating Scale, and sleep quality evaluated using subjective sleep scales.ResultsOculomotor abnormalities were found in all participants, including 3/10 with clinically normal eye movements. Abnormalities involved impaired saccadic accuracy (5/10), abnormal vertical (8/10) and horizontal (4/10) pursuit, reduced optokinetic nystagmus (OKN) responses (7/10), low VOR gain (10/10), and impaired VOR cancellation (2/10). Compared to controls, the LOGG group showed significant differences in saccade, VOR, OKN, and visually enhanced VOR gains. Severity of saccadic dysmetria, OKN, and VOR fixation-suppression impairments correlated with ataxia scales (p < 0.05). Nine out of ten patients with LOGG had evidence of the CCAS (5/10 definite, 2/10 probable, 2/10 possible). Excessive daytime sleepiness was present in 4/10 and 8/10 had poor subjective sleep quality.ConclusionsCerebellar oculomotor abnormalities were present in all patients with LOGG, including those with normal clinical oculomotor examinations. Saccade accuracy (dorsal cerebellar vermis localization), fixation suppression, and OKN gain (cerebellar flocculus/paraflocculus localization) correlated with disease severity, suggesting that quantitative oculomotor measurements could be used to track disease progression. We found evidence of the CCAS, suggesting that cerebellar dysfunction may explain the cognitive disorder in LOGG. Sleep impairments were prevalent and require further study.
The 4 payload crew members of the Spacelab Life Sciences 9-day space flight in 1991 were subjected to limited vestibular testing in flight as well as pre and post flight. Major differences in individual “perceptual style” appeared in their reaction to the visual-vestibular stimuli in the rotating dome experiment, and especially in the extent to which nondirectional tactile cues served to anchor the subjective vertical and body postural reactions. The ability of subjects to point to remembered target positions was degraded in space, which produced a tendency to point low in some subjects in flight. The eye movements and subjective response to sudden stops and head pitching following continuous spinning (dumping) were measured both in space and on the ground. Although subjective duration of inflight rotation for the dumping tests was shorter than that for the preflight tests, the postrotatory nystagmus, with or without head pitch, was lengthened in time constant relative to preflight. Ground tests, in addition to the flight experiments, investigated the changes following in subjective and oculomotor reactions to whole body tilt, the ability to balance with eyes open and closed; leg muscle strength and stamina as related to posture; visual field dependence; and the perceptual and oculomotor reactions to horizontal linear acceleration. Several of these tests, as well as postflight measures of motion sickness susceptibility, revealed subtle evidence of neurovestibular alterations that lasted a week or more following the 10-day orbital exposure.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.