Evidence for specific cognitive deficits in preclinical Huntington's disease
Evidence for specific cognitive deficits in preclinical Huntington's disease
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DOI：
10.1093/brain/121.7.1329
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发表时间：
1998-07-01
期刊：
影响因子：
14.5
通讯作者：
Sahakian, BJ
中科院分区：
文献类型：
--
作者：
Lawrence, AD;Hodges, JR;Sahakian, BJ
对54名遗传上有亨廷顿病风险的受试者进行了双盲检查，采用剑桥神经心理测试自动组合的一系列计算机化测试，没有一名受试者表现出亨廷顿病的临床运动障碍特征。在54名受试者中，22名仅仅是亨廷顿氏病突变携带者，32名是非携带者。在一系列全面的神经心理学测试中，先前显示出对临床亨廷顿病的早期阶段敏感，亨廷顿病突变携带者表现出高度特异性的认知缺陷。特别是，亨廷顿氏病突变携带者在注意力转移和语义语言流畅性测试中的表现明显低于年龄和智商匹配的非携带者。此外，即使在排除年龄和智商的影响后，这两个测试的表现也显著相关。这表明这些认知障碍与抑制控制机制中的常见缺陷有关。在纹状体额机制的控制下，这种缺陷存在于亨廷顿病突变携带者中，在明确的运动神经病学发作之前，对亨廷顿病中认知功能下降的性质的影响，以及未来可能的治疗策略进行了讨论。
The performance of 54 subjects genetically at risk for Huntington's disease was examined in double-blind fashion on a series of computerized tests from the Cambridge Neuropsychological Test Automated Battery, None of the subjects exhibited clinical movement disorder characteristic of Huntington's disease. Of the 54 subjects, 22 mere Huntington's disease mutation carriers and 32 were non-carriers. On a comprehensive battery of neuropsychological tests previously shown to be sensitive to the early stages of clinical Huntington's disease, Huntington's disease mutation carriers exhibited highly specific cognitive deficits. In particular, Huntington's disease mutation carriers performed significantly less well than non-carriers, matched for age and IQ, on tests of attentional set shifting and semantic verbal fluency, Furthermore, performance on these two tests was significantly correlated, even after partialling out the effects of age and IQ, It is suggested that these cognitive impairments relate to a common deficit in inhibitory control mechanisms, under the control of striatofrontal mechanisms, and that such a deficit is present in Huntington's disease mutation carriers prior to the onset of definite motor symptomatology, The implications for the nature of the cognitive decline seen in Huntington's disease, and possible future treatment strategies, are discussed.