John Van Geest Centre for Brain Repair, University of Cambridge, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK,
J Neurol. 2015 Aug;262(8):1990-5. doi: 10.1007/s00415-015-7700-0. Epub 2015 Mar 21.
Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the disease in the very early stages ahead of overt features of disease. To help prepare for therapeutic trials of disease-modifying compounds, extensive work has gone into (1) finding ways of better predicting the onset of disease in pre-manifest HD gene carriers (PMGC), (2) defining the extent of non-motor features of HD and (3) identifying robust and reliable tests by which to measure disease progression. In this short review, we summarise some of the major findings in this area of clinical research.
与大多数神经退行性疾病不同,亨廷顿病的高危个体可以通过其常染色体显性遗传状态在疾病的临床症状出现之前被识别。这为延迟疾病发作和/或在疾病明显特征出现之前的早期阶段减缓疾病进展提供了假设性机会。为了帮助准备疾病修饰化合物的治疗试验,已经进行了广泛的工作来:(1) 寻找更好地预测无症状亨廷顿病基因携带者 (PMGC) 疾病发作的方法;(2) 定义 HD 的非运动特征的程度;(3) 确定可靠和可靠的测试来衡量疾病进展。在这篇简短的综述中,我们总结了该临床研究领域的一些主要发现。