Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland.
Center for Rare Diseases, University Hospital Bern (Inselspital) and University of Bern, Bern, Switzerland.
Eur J Neurol. 2021 Sep;28(9):3040-3050. doi: 10.1111/ene.14955. Epub 2021 Jul 12.
To characterize ocular motor function in patients with Niemann-Pick disease type C (NPC).
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).
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.
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.
描述尼曼-匹克病 C 型（NPC）患者的眼球运动功能。
在一项多地区、横断面研究中，我们通过视频眼动描记法对来自 12 个国家的 72 名患者的眼球运动功能进行了特征描述。我们将其与疾病严重程度相联系，并寻找眼球运动生物标志物。我们的研究方案包括反射性和自主的扫视、平滑追踪以及在水平和垂直平面上的凝视保持。将数据与 158 名健康对照者（HC）的结果进行比较。
约 98.2%的患者的垂直扫视的峰值速度低于对照组 95%置信区间下限。只有 46.9%的患者的平滑追踪增益低于 HC 的 95%置信区间下限。向下和向上两个方向的受累情况相似（51°/s（68.9，[32.7-69.3]）向下与 78.8°/s（65.9，[60.8-96.8]）向上）。水平扫视的峰值速度和潜伏期、垂直扫视的持续时间和幅度以及水平位置平滑追踪与疾病严重程度相关性最好。观察到一些代偿策略，如眨眼来引出扫视，以及头部和上半身运动来克服凝视麻痹。垂直反射性扫视比自主扫视更受损且更缓慢。凝视保持正常。眼球运动功能取决于发病年龄和疾病持续时间。
这是最大的 NPC 患者眼球运动功能研究队列。垂直核上性扫视麻痹是 NPC 的标志。垂直向上和向下扫视同样受损。水平扫视的峰值速度和潜伏期、垂直扫视的持续时间和幅度以及水平位置平滑追踪可作为临床试验的替代参数。代偿策略有助于建立诊断。
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