亨廷顿病(Huntington disease,HD),又称慢性进行性舞蹈病、遗传性舞蹈病,是一种常染色体显性遗传的基底结和大脑皮质变性病,临床少见。由于临床表现多态,散在病例往往得不到及时确诊,现通过HD一家系分析其临床特点,以利指导临床及遗传咨询。1临床资料1.1一般资料一家系4代人共3 Huntington’s disease (HD), also known as chronic progressive chorea and hereditary chorea, is an autosomal dominant basement and cerebral cortex degeneration that is clinically uncommon. As the clinical manifestations of polymorphism, scattered cases often do not get timely diagnosis, is now through the HD a pedigree to analyze its clinical features, to facilitate the guidance of clinical and genetic counseling. 1 clinical data 1.1 General Information A total of 4 generations of a family of 3