经基因诊断证实的11例亨廷顿舞蹈病患者临床特点分析  

Clinical Analysis of 11 Cases with Genetic Diagnosis of Huntington's Disease

作　　者：饶娆[1] 韩永升[1] 薛本春[1] 徐银[1] 程楠[1] 韩咏竹[1] 

机构地区：[1]安徽中医药大学神经病学研究所附属医院,230061

出　　处：《中国临床神经科学》2014年第1期65-69,共5页Chinese Journal of Clinical Neurosciences

摘　　要：目的探讨经基因诊断证实的亨廷顿舞蹈病(HD)患者的临床特点,加深临床医生对该病的认识。方法收集2010年9月至2012年12月收治HD患者的临床资料和基因组DNA标本,分析临床特征和检测IT15基因的动态突变。结果 11例HD患者均检出IT15基因动态突变;HD临床表现复杂且无特异性,多表现为舞蹈、精神行为异常及智力下降,多有家族史、发病年龄差异大,男女性别间无明显差异;辅助检查和影像学检查均无特异表现。结论基因诊断对HD早期诊断尤其对有家族史的家系成员至关重要;对无家族史或无明确遗传倾向,但临床表现典型的HD疑诊患者,基因诊断有重要参考价值。Aim To investigate the clinical features of Huntington＇ s disease （HD） to explore its clinical mechanism. Methods The clinical data of 11 HD patients who had been diagnosed from September 2010 to December 2012 were retrospectively analyzed. Results There were 1T15 gene dynamic mutations in all of the HD patients. Their clinical manifestations were associated with chorea, cognitive deficits and psychiatric disturbances, most of them having family histories. There was significant difference in age of onset, but no significant difference between men and women, and without the specificity in laboratory examination and imaging. Conclusion Early diagnosis and familial genetic screening are necessary for HD patients, especial for the patients having HD family histories. And there are important reference values for those who had the typical clinical manifestations but having no family histories or clear dominant genetic predisposition.

关 键 词：亨廷顿舞蹈病 临床表现 基因诊断 IT15基因 

分 类 号：R742.4[医药卫生—神经病学与精神病学]