Sharma Nutan, Standaert David G
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Neurol Clin. 2002 Aug;20(3):759-78, vii. doi: 10.1016/s0733-8619(01)00014-7.
The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease. In addition, gene mutations have been identified in less common movement disorders including Wilson's disease, Hallervorden-Spatz syndrome, paroxysmal kinesogenic choreoathetosis, neuroacanthocytosis, and some forms of dystonia. This article summarizes what is known about the genetic mutations that cause these movement disorders, as well as the clinical features of each disease and the symptomatic treatments currently available.
遗传性运动障碍是一类迅速增多的人类疾病。遗传学的进展已导致在亨廷顿舞蹈病中鉴定出基因突变，以及在三种不同的基因突变中鉴定出可能导致帕金森病的基因突变。此外，在不太常见的运动障碍中也已鉴定出基因突变，包括威尔逊病、哈勒沃登-施帕茨综合征、阵发性运动诱发性舞蹈手足徐动症、神经棘红细胞增多症以及某些形式的肌张力障碍。本文总结了已知的导致这些运动障碍的基因突变，以及每种疾病的临床特征和目前可用的对症治疗方法。
