Journal article

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

Tatiana Bremova-Ertl, Larry Abel, Mark Walterfang, Ettore Salsano, Anna Ardissone, Vera Malinova, Miriam Kolnikova, Jordi Gascon Bayarri, Ali Reza Tavasoli, Mahmoud Reza Ashrafi, Yasmina Amraoui, Eugen Mengel, Stefan A Kolb, Andreas Brecht, Stanislavs Bardins, Michael Strupp



OBJECTIVE: To characterize ocular motor function in patients with Niemann-Pick disease type C (NPC). METHODS: In a multicontinental, cross-sectional study we characterized ocular-motor function in 72 patients from 12 countries by video-oculography. Interlinking with disease severity, we also searched for ocular motor biomarkers. Our study protocol comprised reflexive and self-paced saccades, smooth pursuit, and gaze-holding in horizontal and vertical planes. Data were compared with those of 158 healthy controls (HC). RESULTS: Some 98.2% of patients generated vertical saccades below the 95% CI of the controls' peak velocity. Only 46.9% of patients had smooth pursuit gain lower than that of 95..

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University of Melbourne Researchers