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目的通过以舞蹈症状为主要临床表现的病例,介绍遗传性舞蹈病的诊疗思路和基因筛查策略。方法收集3例遗传性舞蹈病家系的临床资料,应用重复引物多聚酶链反应(TP-PCR)和毛细管电泳技术,以及靶向测序的方法对这3家系舞蹈病相关基因进行筛查,对发现的异常扩增或突变进行进一步Sanger测序法验证。总结遗传性舞蹈病的分类、临床特点和致病基因,以及遗传性舞蹈病的诊断思路及选择基因检查的策略。结果根据基因检测结果,3个遗传性舞蹈病家系分别诊断为亨廷顿病、舞蹈-棘红细胞增多症和齿状核红核苍白球丘脑底核萎缩。结论遗传性舞蹈病包括获得性和遗传性两种病因,其遗传异质性强,但能通过一些特征性的临床表现和症状体征组合、生化和影像学结果,初步判定是哪种疾病,从而选择相应的基因检测明确诊断。
Objective To introduce the diagnosis and treatment strategies and genetic screening strategies of hereditary chorea through cases of chorea symptoms as the main clinical manifestations. Methods The clinical data of 3 pedigrees of hereditary chorea were collected. The genes related to chorea were screened by repeated primer polymerase chain reaction (TP-PCR), capillary electrophoresis and targeted sequencing. Aberrant amplification or mutation was further verified by Sanger sequencing. Summarize the classification, clinical features and genetics of hereditary chorea, as well as the diagnosis ideas of hereditary chorea and strategies for selecting genetic tests. Results According to the results of genetic testing, the three hereditary chorea pedigrees were diagnosed as Huntington’s disease, chorea-aplerytocytosis and atrophy of nucleus pallidus in the odontoid nucleus. Conclusions Hereditary chorea disease includes both acquired and hereditary causes. Heterogeneity is strong, but it can be preliminarily determined which one is the result of some characteristic clinical manifestations, signs and symptoms, biochemical and imaging findings. Select the appropriate gene test to confirm the diagnosis.