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A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C

European Journal of Neurology Jun 12, 2021

Bremova-Ertl T, Abel L, Walterfang M, et al. - Researchers conducted this multicontinental, cross-sectional study to characterize ocular motor function in patients with Niemann-Pick type C (NPC). Video-oculography was used to assess ocular-motor function in 72 patients from 12 countries. The results were compared to those of 158 healthy controls. This is the largest NPC patient cohort studied for ocular-motor function. The hallmark of NPC is vertical supranuclear saccade palsy. Vertical upward and downward saccades are both affected. Surrogate parameters for clinical trials include horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit. Compensating strategies can aid in the establishment of a diagnosis.

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