Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.

Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.
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DOI:
10.1371/journal.pone.0050947
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发表时间:
2012
期刊:
影响因子:
3.7
通讯作者:
Walterfang M
Walterfang M
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Abel LA;Bowman EA;Velakoulis D;Fahey MC;Desmond P;Macfarlane MD;Looi JC;Adamson CL;Walterfang M

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尼曼-匹克C型病(NPC)是一种罕见的脂质代谢遗传性疾病。在评估米卢司他治疗鼻咽癌的临床试验中,与水平跳峰速度相关的参数是主要的结局指标之一。神经病理学在鼻咽癌中广泛存在,并且可能会影响其他眼跳参数。我们比较了9名成人鼻咽癌患者的水平扫视速度、潜伏期、增益、反扫视错误率和自定速度的扫视产生与10名年龄匹配的对照组的数据。这些跳眼测量与适当的mri脑结构测量(如背外侧前额叶皮层、额叶视野、补充视野、顶叶视野、脑桥、中脑和小脑蚓)以及疾病严重程度和持续时间的测量相关。反身性扫视增益和两种自愿性扫视测量是两组间最好的判别因子。体重增加也与疾病严重程度和持续时间密切相关。大多数跳眼测量显示与神经生理上合适的大脑区域有很强的相关性。虽然我们的患者样本很小,但这些关系的明显特异性表明,随着新的鼻咽癌诊断方法和治疗方法的出现,更广泛的跳眼测量可能是评估疾病进展和治疗效果的有用工具。
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.
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