论文部分内容阅读
Huntington病(简称HD,又称Huntington舞蹈病,HC)是以神经系统变性为特征的一种常染色体显性遗传病。临床症状与发病年龄有较大的变化,本病多在30~50岁开始出现症状。HD有舞蹈型与强直型两种,以进行性运动异常、舞蹈样运动、人格变化、记忆力丧失和心理改变为特征,基因完全外显。HD的流行率约为5~10/100000,但由于多数病人发病较晚,使发病率的精确统计受到影响。鉴于HD潜伏期长,一般在发病时已把缺陷基因传给下一代,对家族成员有着很大的影响。该病病程一般约为10~20年,最后丧失自理能力,因此,对于HD的症状前诊断和产前诊断以及
Huntington’s disease (referred to as HD, also known as Huntington’s disease, HC) is characterized by an autosomal dominant genetic disease of the nervous system. Clinical symptoms and age of onset have a greater change, the disease mostly in 30 to 50 years old began to show symptoms. HD has two types of dance and straightforward, characterized by progressive movement disorders, dance-like movements, personality changes, memory loss and psychological changes, the gene completely explicit. The prevalence of HD is about 5 to 10 per 100,000, but due to the late onset of most patients, the exact statistics of the incidence are affected. Given the long latency of HD, it is common for disease genes to pass on to the next generation at onset, which has a large impact on family members. The course of the disease is generally about 10 to 20 years, the last loss of self-care ability, therefore, for the pre-diagnosis of HD and prenatal diagnosis and