Margolis Russell L, Ross Christopher A
Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Clin Chem. 2003 Oct;49(10):1726-32. doi: 10.1373/49.10.1726.
Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset.
We reviewed the literature concerning the molecular diagnosis of HD.
The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagnostic tests that can be applied to symptomatic patients, individuals at risk for HD but currently asymptomatic, fetuses, and embryos. However, the unstable nature of the HD mutation, the lack of effective treatments for HD, the mid-adulthood age of disease onset, and the existence of disorders with the same clinical presentation but different etiology all complicates diagnostic testing.
Conscientious laboratory work, knowledgeable interpretation of genetic test results, and the availability of pre- and posttest counseling are essential components of HD diagnosis.
亨廷顿舞蹈症（HD）是一种罕见的、进行性的、致命的常染色体显性神经退行性疾病，通常在成年期发病。
我们回顾了有关HD分子诊断的文献。
HD遗传病因的发现，即4号染色体短臂上的三核苷酸扩增突变，促使开发出越来越可靠且有效的诊断测试，这些测试可应用于有症状的患者、有HD风险但目前无症状的个体、胎儿和胚胎。然而，HD突变的不稳定性质、缺乏针对HD的有效治疗方法、疾病发病的中年年龄以及存在临床表现相同但病因不同的疾病，都使诊断测试变得复杂。
严谨的实验室工作、对基因检测结果的专业解读以及提供检测前和检测后的咨询服务，是HD诊断的重要组成部分。
