Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Australia.
PLoS One. 2012;7(11):e50947. doi: 10.1371/journal.pone.0050947. Epub 2012 Nov 30.
Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC. Neuropathology is widespread in NPC, however, and could be expected to affect other saccadic parameters. We compared horizontal saccadic velocity, latency, gain, antisaccade error percentage and self-paced saccade generation in 9 adult NPC patients to data from 10 age-matched controls. These saccadic measures were correlated with appropriate MRI-derived brain structural measures (e.g., dorsolateral prefrontal cortex, frontal eye fields, supplemental eye fields, parietal eye fields, pons, midbrain and cerebellar vermis) and with measures of disease severity and duration. The best discriminators between groups were reflexive saccade gain and the two volitional saccade measures. Gain was also the strongest correlate with disease severity and duration. Most of the saccadic measures showed strongly significant correlations with neurophysiologically appropriate brain regions. While our patient sample is small, the apparent specificity of these relationships suggests that as new diagnostic methods and treatments become available for NPC, a broader range of saccadic measures may be useful tools for the assessment of disease progression and treatment efficacy.
尼曼-匹克 C 型病（NPC）是一种罕见的脂质代谢遗传疾病。在评估米格列奈特治疗 NPC 的临床试验中，与水平眼跳峰值速度相关的参数是主要的疗效评估指标之一。然而，NPC 患者的神经病理学广泛存在，预计会影响其他眼跳参数。我们将 9 名成年 NPC 患者的水平眼跳速度、潜伏期、增益、反向眼跳误差百分比和自主眼跳生成与 10 名年龄匹配的对照组的数据进行了比较。这些眼跳指标与适当的 MRI 衍生的脑结构测量值（例如，背外侧前额叶皮质、额眼区、补充眼区、顶眼区、脑桥、中脑和小脑蚓部）以及疾病严重程度和持续时间的测量值相关。组间最佳鉴别指标为反射性眼跳增益和两种随意性眼跳测量值。增益也是与疾病严重程度和持续时间相关性最强的指标。大多数眼跳指标与神经生理学上适当的脑区有显著相关性。尽管我们的患者样本较小，但这些关系的明显特异性表明，随着 NPC 的新诊断方法和治疗方法的出现，更广泛的眼跳指标可能成为评估疾病进展和治疗效果的有用工具。
