Lemiere Jurgen, Decruyenaere Marleen, Evers-Kiebooms Gery, Vandenbussche Erik, Dom Rene
Department of Neurology, UZ Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium.
J Neurol. 2004 Aug;251(8):935-42. doi: 10.1007/s00415-004-0461-9.
Objective information about the onset and progression of cognitive impairment in Huntington's disease (HD) is very important in the light of appropriate outcome measures when conducting clinical trials. Therefore, we evaluated the progression of cognitive functions in HD patients and asymptomatic carriers of the HD mutation (AC) over a 2.5-year period. We also sought to detect the earliest markers of cognitive impairment in AC.
A prospective study comparing HD patients, clinically asymptomatic HD mutation-carriers (AC) and non-carriers (NC). These groups were examined three times during a period of 2.5 years. At baseline the study sample consisted of 49 subjects. Forty-two subjects (19 HD patients, 12 AC and 11 NC) completed three assessments. A battery of neuropsychological tests measuring intelligence, attention, memory, language, visuospatial perception, and executive functions was performed.
The performance of HD patients deteriorated on the following cognitive tests: Symbol Digit Modalities Test (SDMT), Stroop Colour and Word, Boston Naming Test (BNT), Object and Space Perception and Trail Making Test-B. Longitudinal comparison of AC and NC revealed that performances on SDMT, Block Span, Digit Span Backwards, Hopkins Verbal Learning Test (learning and delayed recall) and Conditional Associative Learning Test are impaired in AC.
Tasks measuring mainly attention, object and space perception and executive functions adequately assess the progression of HD disease. Other cognitive functions do not significantly deteriorate. Furthermore, problems in attention, working memory, verbal learning, verbal long-term memory and learning of random associations are the earliest cognitive manifestations in AC.
鉴于在进行临床试验时需要合适的结果测量指标，关于亨廷顿舞蹈病（HD）认知障碍的发病和进展的客观信息非常重要。因此，我们评估了HD患者以及HD突变无症状携带者（AC）在2.5年期间认知功能的进展情况。我们还试图检测AC中认知障碍的最早标志物。
一项前瞻性研究，比较HD患者、临床无症状HD突变携带者（AC）和非携带者（NC）。这些组在2.5年期间接受了三次检查。基线时，研究样本包括49名受试者。42名受试者（19名HD患者、12名AC和11名NC）完成了三次评估。进行了一系列测量智力、注意力、记忆力、语言、视觉空间感知和执行功能的神经心理学测试。
HD患者在以下认知测试中的表现变差：符号数字模式测试（SDMT）、斯特鲁普颜色和文字测试、波士顿命名测试（BNT）、物体和空间感知测试以及连线测验B。AC和NC的纵向比较显示，AC在SDMT、方块跨度、倒背数字跨度、霍普金斯词语学习测试（学习和延迟回忆）以及条件联想学习测试中的表现受损。
主要测量注意力、物体和空间感知以及执行功能的任务能够充分评估HD疾病的进展。其他认知功能没有显著恶化。此外，注意力、工作记忆、词语学习、词语长期记忆以及随机联想学习方面的问题是AC中最早出现的认知表现。
