Neurocognitive testing in late-onset Tay-Sachs disease: A pilot study
Neurocognitive testing in late-onset Tay-Sachs disease: A pilot study
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DOI：
10.1007/s10545-008-0884-z
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发表时间：
2008-08-01
影响因子：
4.2
通讯作者：
Zimran, A.
中科院分区：
文献类型：
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作者：
Elstein, D.;Doniger, G. M.;Zimran, A.
目的测试神经认知功能的晚发性Tay-Sachs病（LOTS）患者使用计算机系统，以评估是否认知是一个临床相关的结果可能的治疗干预措施在LOTS.Methods 10名成年人与Tay-Sachs病至少一个电池的Mindstreams Neurotrax系统的认知功能进行评估。将六个分项评分和总体认知评分（GCS）制成表格。一种疾病的具体严重程度评分也设计了6个domain.Results尽管相同的基因型，所有患者，但两个最古老的有>= 3/6分低于正常平均值（100）的标准差，语言和执行功能的影响最大。严重程度评分测量其他functions.Conclusions由于暴露于麦格司他的患者重新测试的挑衅性结果，尽管队列非常小，但认知功能可能是未来LOTS治疗干预的适当和临床相关结局指标。
Objectives To test neurocognitive function in patients with late-onset Tay-Sachs disease (LOTS) using a computerized system to assess whether cognition is a clinically relevant outcome measure of possible therapeutic intervention in LOTS.Methods Ten adults with Tay-Sachs disease were administered at least one battery of the Mindstreams Neurotrax system for evaluation of cognitive function. Six sub-scores and a Global Cognitive Score (GCS) were tabulated. A disease specific severity score was also devised with six domains.Results Despite identical genotypes, all patients but the two oldest had >= 3/6 sub-scores one standard deviation below normal mean (100); verbal and executive functions were most affected. The severity score measured other functions.Conclusions Because of provocative findings on re-testing in patients exposed to miglustat, and despite the very small cohort, cognitive function may be an appropriate and clinically relevant outcome measure for future therapeutic interventions in LOTS.