遗传性舞蹈病的诊断思路和基因筛查策略(附3例报告及文献复习)

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。

Diagnosis and Genetic Screen Strategy of Hereditary Chorea (Reports of Three Cases and Literature Review)

Aim To show the clinical practice of 3 cases of hereditary chorea and demonstrate the diagnosis and genetic testing strategy of hereditary chorea.Methods The clinical data were collected in three pedigrees with clinical suspected hereditary chorea.The dynamic mutations of hereditary chorea were detected by triplet repeat primed PCR (TP-PCR) and capillary electrophoresis,while the point mutations of hereditary chorea were detected by target sequencing.The abnormal results were further confirmed by PCR and Sanger sequencing.Results The probands of the three pedigrees were diagnosed as Huntington's disease,chorea acanthocytosis syndrome and dentatorubral-pallidoluysian atrophy by genetic testing.Conclusion The common causes of hereditary chorea are divided into acquired and inherited ones.Clinical heterogeneity of the hereditary chorea made it difficult to diagnose according to the clinical symptoms,though some diseases could be dedicated from the clinical characteristics including family history,the results of neurological examination,biochemistry investigations and neuroimages.