Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America.
PLoS One. 2011;6(7):e22410. doi: 10.1371/journal.pone.0022410. Epub 2011 Jul 20.
Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials.
ClinicalTrials.gov NCT00001289.
我们的目的是描述 3 型戈谢病（慢性神经病变型）患者的眼球跳动，以了解与神经和神经生理学异常的关系。大约 4 年来，我们通过巩膜搜索线圈法前瞻性地跟踪了 15 名戈谢病 3 型患者（年龄 8-28 岁）的队列，以测量眼球跳动。我们发现，与健康对照组相比，3 型戈谢病患者的水平和垂直眼球跳动的持续时间与幅度的回归斜率显著更高。仅水平眼球跳动的眼球跳动潜伏期显著增加。向下的眼球跳动比向上的眼球跳动更受影响。在某些患者中，眼球跳动异常随着时间的推移而增加，反映了疾病的缓慢进展性质。相平面图显示了异常眼球运动轨迹的个体特征模式。几乎所有患者的 Purdue 钉板测试的眼球手动灵巧度评分都较低，即使认知功能正常的患者也是如此。垂直眼球跳动峰值幅度与幅度斜率显著与智商和 Purdue 钉板测试的表现相关，但与脑干和体感诱发电位无关。我们得出结论，在戈谢病 3 型患者中，眼球跳动和眼球手动灵巧度是纵向研究的代表性神经功能，可能可作为治疗临床试验的终点。
ClinicalTrials.gov NCT00001289。
