Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/179330
Title: A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C
Author: Bremova‐Ertl, Tatiana
Abel, Larry
Walterfang, Mark
Salsano, Ettore
Ardissone, Anna
Malinová, Věra
Kolníková, Miriam
Gascón Bayarri, Jordi
Reza Tavasoli, Ali
Reza Ashrafi, Mahmoud
Amraoui, Yasmina
Mengel, Eugen
Kolb, Stefan A.
Brecht, Andreas
Bardins, Stanislavs
Strupp, Michael
Keywords: Trastorns del metabolisme
Manifestacions oculars de les malalties
Metabolism--Disorders
Ocular manifestations of general diseases
Issue Date: 12-Jul-2021
Publisher: Wiley
Abstract: 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% CI of HC. The involvement in both downward and upward directions was similar (51°/s (68.9, [32.7-69.3]) downward versus 78.8°/s (65.9, [60.8-96.8]) upward). Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit correlated best to disease severity. Compensating strategies such as blinks to elicit saccades, and head and upper body movements to overcome the gaze palsy, were observed. Vertical reflexive saccades were more impaired and slower than self-paced ones. Gaze-holding was normal. Ocular-motor performance depended on the age of onset and disease duration. Conclusions: This is the largest cohort of NPC patients investigated for ocular-motor function. Vertical supranuclear saccade palsy is the hallmark of NPC. Vertical upward and downward saccades are equally impaired. Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit can be used as surrogate parameters for clinical trials. Compensating strategies can contribute to establishing a diagnosis.
Note: Reproducció del document publicat a: https://doi.org/10.1111/ene.14955
It is part of: European Journal of Neurology, 2021, vol. 28, num. 9, p. 3040-3050
URI: http://hdl.handle.net/2445/179330
Related resource: https://doi.org/10.1111/ene.14955
ISSN: 1468-1331
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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