Journal article

Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patients

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

Cold Spring Harbor Laboratory


AbstractNiemann-Pick type C (NPC) is a rare lysosomal storage disorder with ocular motor involvement. In a multicontinental, cross-sectional study we characterized ocular motor function in 72 genetically proven patients from twelve countries by means of 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. The Modified Disability Rating Scale, Scale for Assessment and Rating of Ataxia, Spinocerebellar Ataxia Functional Index for neurological status, and Montreal..

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University of Melbourne Researchers

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