亨廷顿舞蹈病一家系5代病例报告并文献复习  

Huntington’s diseasein a family of five generations:a case report and literature review

作　　者：管程程 刘文淼 马建华[3] 郑雪萍 刘世国[1,2] GUAN Chengcheng;LIU Wenmiao;MA Jianhua;ZHENG Xueping;LIU Shiguo(Prenatal Diagnostic Center,Affiliated Hospital of Qingdao University,Qingdao 266071,China)

机构地区：[1]青岛大学附属医院产前诊断中心,山东青岛266071 [2]青岛大学附属医院医学遗传科,山东青岛266071 [3]青岛大学附属医院生殖中心,山东青岛266071 [4]青岛大学附属医院老年医学科,山东青岛266071

出　　处：《青岛大学学报（医学版）》2024年第1期141-143,共3页Journal of Qingdao University(Medical Sciences)

基　　金：国家重点研发计划项目(2016YFC1000306);国家自然科学基金资助项目(30971586)。

摘　　要：目的加深对亨廷顿舞蹈病(HD)遗传方式和临床特征的认识。方法对1个5代家系中的13例病人进行调查,对每一代病人的临床特点进行回顾性分析,并对其中2代病人的基因进行分析。结果该家系患病男性明显多于女性,发病年龄随世代递减。主要临床症状为不自主运动、剪刀步态、智力低下和性格异常。结论该家系的遗传传递有助于加深对HD遗传方式和临床特征的认识。Objective To deepen the understanding of the inheritance pattern and clinical features of Huntington’s disease.Methods Thirteen patients from a family spanningfive generationswere investigated.The clinical features of patients from each generation were analyzed retrospectively,with the genes of two generations being analyzed.Results There were more males with this disease than females,and the age of onset decreased with each successive generation.The main clinical signs observed were involuntary movements,scissoring gait,intellectual disability,and abnormal personality.Conclusion Genetic transmission in this family helps to increase the understanding of the inheritance patterns and clinical features of Huntington’s disease.

关 键 词：杭廷顿病 系谱 遗传现象 基因检测 病例报告 

分 类 号：R742.2[医药卫生—神经病学与精神病学]