Wolf R C, Vasic N, Schönfeldt-Lecuona C, Ecker D, Landwehrmeyer G B
Abteilung Psychiatrie III, Universitätsklinik, Leimgrubenweg 12-14, 89075, Ulm, Deutschland.
Nervenarzt. 2008 Apr;79(4):408-20. doi: 10.1007/s00115-007-2390-1.
Cognitive deficits are among the core symptoms of patients with Huntington's disease (HD). While impaired attention, visuospatial processing, and memory can be observed during early stages of the illness, HD patients exhibit deficits in executive function on tests requiring planning, problem solving, and cognitive flexibility with progression of the disease. Cognitive dysfunction is already present in individuals who carry the HD gene mutation but remain presymptomatic for motor and cognitive disturbances. This review provides an overview and a discussion of functional neuroimaging findings on cognitive dysfunction in patients with HD and presymptomatic HD gene mutation carriers. In HD patients, currently available evidence suggests a functional deficit of multiple cortical and subcortical regions extending beyond volumetric abnormalities. Early dysfunction of lateral prefrontal and cingulate regions has been shown in individuals with presymptomatic HD, while compensatory responses of posterior brain regions may occur closer to the onset of manifest clinical symptoms. While functional neuroimaging techniques may substantially contribute to defining neurodegenerative disease phenotypes and to identifying neural biomarkers in presymptomatic individuals, the extant data on cognitive function in HD patients and HD gene carriers however is sparse and has to be expanded through further studies.
认知缺陷是亨廷顿舞蹈症（HD）患者的核心症状之一。在疾病早期阶段，患者会出现注意力、视觉空间处理和记忆受损的情况，而随着病情发展，HD患者在需要计划、解决问题和认知灵活性的测试中表现出执行功能缺陷。认知功能障碍在携带HD基因突变但尚未出现运动和认知障碍症状的个体中就已经存在。这篇综述概述并讨论了关于HD患者和HD基因突变症状前携带者认知功能障碍的功能神经影像学研究结果。在HD患者中,目前可得的证据表明多个皮质和皮质下区域存在功能缺陷，且超出了体积异常的范围。有症状前HD的个体已显示出外侧前额叶和扣带区域的早期功能障碍，而后脑区域的代偿反应可能在更接近明显临床症状出现时发生。虽然功能神经影像学技术可能在很大程度上有助于定义神经退行性疾病表型和识别症状前个体的神经生物标志物，但目前关于HD患者和HD基因携带者认知功能的数据仍然稀少，必须通过进一步研究加以扩充。
