Snowden J S, Craufurd D, Thompson J, Neary D
Department of Neurology, Manchester Royal Infirmary, UK.
J Clin Exp Neuropsychol. 2002 Apr;24(2):133-45. doi: 10.1076/jcen.24.2.133.998.
The earliest changes in the development of Huntington's disease (HD) remain controversial. Studies of cognitive function in preclinical individuals who have the HD mutation have yielded contradictory results. This study compared cognitive and motor performance in 51 people with the HD mutation who had no clinical signs of HD, 85 at-risk individuals without the HD mutation and 43 individuals in the early stages of HD. Whereas highly significant differences were detected between the preclinical and early-HD groups, only subtle impairments were present in at-risk individuals with the HD mutation compared to those with normal HD alleles, principally for low-demand psychomotor tasks. Complementing these observations, longitudinal investigation showed that performance on psychomotor tasks in people with the mutation who were close to clinical onset of HD was intermediate between that of individuals many years from onset and those in the early stages of HD, suggesting a slowly insidious evolution of deficit. In contrast, memory performance showed a more precipitous decline around the time of clinical onset of HD. The findings, which suggest that HD patients' functional deficits do not evolve uniformly, help to resolve some of the disparities in the literature on preclinical HD.
亨廷顿舞蹈症（HD）发展过程中最早出现的变化仍存在争议。对携带HD突变的临床前个体的认知功能研究得出了相互矛盾的结果。本研究比较了51名携带HD突变但无HD临床症状的患者、85名未携带HD突变的高危个体以及43名HD早期患者的认知和运动表现。虽然在临床前组和HD早期组之间检测到了非常显著的差异，但与具有正常HD等位基因的个体相比，携带HD突变的高危个体仅存在细微的损伤，主要体现在低需求心理运动任务方面。作为这些观察结果的补充，纵向研究表明，接近HD临床发病的携带突变个体在心理运动任务上的表现介于距离发病多年的个体和HD早期个体之间，这表明缺陷是缓慢而隐匿地发展的。相比之下，记忆表现在HD临床发病时下降更为急剧。这些结果表明HD患者的功能缺陷并非均匀发展，有助于解决临床前HD文献中的一些差异。
