A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C

A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C Publisher Pubmed

Bremovaertl T^{1, 2} ; Abel L³ ; Walterfang M^{4, 5} ; Salsano E⁶ ; Ardissone A⁶ ; Malinova V⁷ ; Kolnikova M⁸ ; Gascon Bayarri J⁹ ; Reza Tavasoli A¹⁰ ; Reza Ashrafi M¹⁰ ; Amraoui Y¹¹ ; Mengel E¹¹ ; Kolb SA¹² ; Brecht A¹² Show All Authors

Bremovaertl T^{1, 2}
Abel L³
Walterfang M^{4, 5}
Salsano E⁶
Ardissone A⁶
Malinova V⁷
Kolnikova M⁸
Gascon Bayarri J⁹
Reza Tavasoli A¹⁰
Reza Ashrafi M¹⁰
Amraoui Y¹¹
Mengel E¹¹
Kolb SA¹²
Brecht A¹²
Bardins S¹³
Strupp M¹³

Source: European Journal of Neurology Published:2021

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. © 2021 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology

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Style	Citing Format
MLA	Bremovaertl T, et al.. "A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C." European Journal of Neurology, vol. 28, no. 9, 2021, pp. 3040-3050.
APA	Bremovaertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinova V, Kolnikova M, Gascon Bayarri J, Reza Tavasoli A, Reza Ashrafi M, Amraoui Y, Mengel E, Kolb SA, Brecht A, Bardins S, Strupp M (2021). A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C. European Journal of Neurology, 28(9), 3040-3050.
Chicago	Bremovaertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinova V, Kolnikova M, et al.. "A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C." European Journal of Neurology 28, no. 9 (2021): 3040-3050.
Harvard	Bremovaertl T et al. (2021) 'A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C', European Journal of Neurology, 28(9), pp. 3040-3050.
Vancouver	Bremovaertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinova V, et al.. A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C. European Journal of Neurology. 2021;28(9):3040-3050.
BibTex	@article{ author = {Bremovaertl T and Abel L and Walterfang M and Salsano E and Ardissone A and Malinova V and Kolnikova M and Gascon Bayarri J and Reza Tavasoli A and Reza Ashrafi M and Amraoui Y and Mengel E and Kolb SA and Brecht A and Bardins S and Strupp M}, title = {A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C}, journal = {European Journal of Neurology}, volume = {28}, number = {9}, pages = {3040-3050}, year = {2021} }
RIS	TY - JOUR AU - Bremovaertl T AU - Abel L AU - Walterfang M AU - Salsano E AU - Ardissone A AU - Malinova V AU - Kolnikova M AU - Gascon Bayarri J AU - Reza Tavasoli A AU - Reza Ashrafi M AU - Amraoui Y AU - Mengel E AU - Kolb SA AU - Brecht A AU - Bardins S AU - Strupp M TI - A Cross-Sectional, Prospective Ocular Motor Study in 72 Patients With Niemann-Pick Disease Type C JO - European Journal of Neurology VL - 28 IS - 9 SP - 3040 EP - 3050 PY - 2021 ER -

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