Department of Neurology and Centre of Clinical Neuroscience, Charles University, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Departmet of Neurosurgery, Na Homolce Hospital, Prague, Czech Republic.
Neurol Sci. 2020 May;41(5):1097-1103. doi: 10.1007/s10072-019-04225-3. Epub 2020 Jan 2.
This study aims to characterize eye movement abnormalities in Wilson disease and examine their association with the degree of brainstem atrophy.
Twenty patients (10 males, mean age 46.8, SD 8.9 years) with genetically confirmed neurological WD on stable anti-copper treatment and 20 age- and sex-matched healthy subjects were examined. Eye movements, including prosaccade and antisaccade tasks, were evaluated using infrared videooculography. MRI was performed using 1.5 T system, and T-weighted images were used for the measurement of midbrain and pontine area on mid-sagittal slices. Clinical severity was assessed using the Unified Wilson's Disease Rating Scale (UWDRS).
Compared to healthy controls, WD patients showed prolonged latencies of horizontal prosaccades and hypometry of both horizontal (p = 0.04) and vertical (p = 0.0046) prosaccades. In the antisaccade task, WD patients showed prolonged latency of both horizontal (p = 0.04) and vertical antisaccades (p = 0.047) and increased error rate of vertical antisaccades (p = 0.04). There is a significant association between midbrain area and horizontal latencies (r = -0.53; p = 0.02) and vertical maximum speed in prosaccades (r = 0.47; p = 0.04). The pons area inversely correlated with horizontal prosaccade and antisaccade latencies (p = 0.007).
We showed impairments of ocular saccades such as prolonged latencies, hypometry, and increased error rate in antisaccades. The strong association between prolonged latencies of prosaccades and the brainstem atrophy suggests that VOG might serve as a sensitive electrophysiological marker of brainstem dysfunction in WD.
本研究旨在描述肝豆状核变性（Wilson 病，WD）患者的眼球运动异常，并探讨其与脑桥萎缩程度的关系。
对 20 例经基因确诊、接受稳定驱铜治疗的神经型 WD 患者（男 10 例，平均年龄 46.8 岁，标准差 8.9 岁）和 20 名年龄和性别匹配的健康对照者进行了检查。使用红外视频眼动描记法评估了包括注视性眼跳和反跳性眼跳在内的眼球运动。使用 1.5T 磁共振成像系统进行 MRI 检查，在中矢状位切片上测量中脑和脑桥区域的 T1 加权图像。采用统一 Wilson 病评分量表（UWDRS）评估临床严重程度。
与健康对照组相比，WD 患者的水平注视性眼跳潜伏期延长，水平（p=0.04）和垂直（p=0.0046）注视性眼跳幅度降低。在反跳性眼跳任务中，WD 患者的水平（p=0.04）和垂直反跳性眼跳潜伏期延长（p=0.047），垂直反跳性眼跳错误率增加（p=0.04）。中脑面积与水平眼跳潜伏期（r=-0.53；p=0.02）和注视性眼跳的垂直最大速度（r=0.47；p=0.04）呈显著相关。脑桥面积与水平注视性眼跳和反跳性眼跳潜伏期呈负相关（p=0.007）。
我们发现 WD 患者存在眼球运动异常，如潜伏期延长、幅度降低和反跳性眼跳错误率增加。注视性眼跳潜伏期延长与脑桥萎缩之间存在强烈关联，这提示 VOG 可能成为 WD 脑干功能障碍的一种敏感电生理标志物。
