Swiss Huntington's Disease Centre, Department of Neurology, University of Bern, Neurobu Clinics, Steinerstrasse 45, CH 3006, Bern, Switzerland.
Transl Neurodegener. 2013 Jan 25;2(1):2. doi: 10.1186/2047-9158-2-2.
Research on the molecular mechanisms involved in Huntington's disease, a monogenic disorder with a complex phenotype including motor, behaviour, and cognitive impairments, is advancing at a rapid path. Knowledge on several of the multimodal pathways has now lead to the establishment of rational strategies to prepare trials of several compounds in affected people. Furthermore, improved understanding of the phenotype and on ways of assessing it, as well as the process of developing biomarkers, allows setting the frame for such studies. In this brief review, the present status of some of these aspects is examined.
亨廷顿病是一种单基因疾病，其表型复杂，包括运动、行为和认知障碍，与该病相关的分子机制研究正在迅速推进。目前已经对几种多模态途径有了一定的了解，这为在患者中进行几种化合物的试验制定合理的策略提供了依据。此外，对表型及其评估方法的深入了解，以及生物标志物的开发过程，为这些研究奠定了框架。在这篇简要的综述中，检查了其中一些方面的现状。
