Department of Neurology, West China Hospital, Sichuan University, Sichuan, PR China.
Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S107-9. doi: 10.1016/S1353-8020(11)70034-7.
Huntington's disease typically presents with involuntary movements, cognitive decline and behavioural abnormalities; however, new data show a greater spectrum and more complexity in the mode of presentation than previously appreciated. On one hand efforts are under way to better assess all aspects of the evolving phenotype over the course of the disease, on the other hand large cohorts have been prospectively followed-up and similar efforts are now being started in China. In this communication, we briefly review the most salient findings from the last couple of years. The recently established large cohorts allow the performance of accurate studies examining correlation of genetic polymorphisms with specific aspects of the phenotype thus allowing for some mechanistic insight into the causes of phenotypic variation. While Huntington's disease is the most frequent hereditary cause of chorea, other disorders with similar clinical phenotypes, including neuroacanthocytosis, are now better known, including a better understanding of the primary cause as well as the pathophysiology at the molecular level. Studies on the mechanisms of disease in these different disorders may shed light on the respective pathomechanisms and may open new approaches to a better understanding and additional treatment options for choreatiform neurodegenerative disorders.
亨廷顿病通常表现为不自主运动、认知能力下降和行为异常；然而，新的数据显示，在发病模式方面，其表现形式比以前所认识的更加广泛和复杂。一方面，人们正在努力更好地评估疾病过程中不断发展的表型的所有方面，另一方面，已经对大量队列进行了前瞻性随访，目前在中国也正在开展类似的工作。在本通讯中，我们简要回顾了过去几年中最显著的发现。最近建立的大型队列允许进行准确的研究，检查遗传多态性与表型特定方面的相关性，从而为表型变异的原因提供一些机制上的见解。虽然亨廷顿病是舞蹈病最常见的遗传性病因，但其他具有类似临床表型的疾病，包括神经棘红细胞增多症，现在也更为人所知，包括对主要病因以及分子水平的病理生理学有了更好的理解。对这些不同疾病中疾病机制的研究可能会揭示各自的发病机制，并为更好地理解和增加舞蹈病性神经退行性疾病的治疗选择开辟新途径。
