亨廷顿病临床研究及家系分析

The Clinical Study and Family Analysis of Huntington’s Disease

目的探讨亨廷顿病(HD)患者临床特点、诊疗方法以及疾病进展情况,分析HD家系遗传特点。方法在知情、自愿的原则下,收集2017年8月郑州大学第五附属医院神经内三科收治的1个HD家系患者的临床资料,绘制遗传家谱图,并进行随访。结果该家系6例已发病患者中,有5例患者以不同程度的肢体不自主舞动、行走不稳、运动迟缓、焦虑抑郁起病,部分伴有高级智能缺损,1例青少年HD患者儿童期以痫性发作起病。该家系发病年龄8~58岁,病程5~24 a,其中5例患者已死亡,先证者疾病进展较快。先证者的CAG拷贝数为53次,其2个儿子CAG拷贝数分别为53和58次。结论HD早期诊断困难,特征性临床症状及家族史尤为重要,基因诊断对于阴性家族史患者是有效的确诊方法。该家系下一代患者发病年龄较前代更小,存活时间较前代更短。对HD患者需定期随访,症状前期的患者需早识别,并在生育期提供遗传咨询。

Objective To investigate the clinical manifestations,diagnosis and treatment methods,disease progression of Huntington’s disease,and analyze the genetic characteristics of Huntington’s disease family.Methods The clinical data of a Huntington’s family admitted to the third Department of neurology of the Fifth Affiliated Hospital of Zhengzhou University in August 2017 were collected on an informed and voluntary basis,and the genetic family tree was drawn and followed up.Results Among the 6 patients in this family,5 patients started with involuntary dancing of limbs,unsteady walking,motor retardation,anxiety and depression to varying degrees,and some of them were accompanied by impairment of advanced intelligence.One of the patients,a juvenile HD,fell ill with epilepsy and dementia in childhood.The onset age of this family ranged from 8 to 58 years old,and the course of disease ranged from 5 to 24 years.Among them,5 patients had died,and the disease progression of the proband was relatively fast.The proband’s CAG repeat number was 53,and her two sons’were 53 and 58.Conclusion Early diagnosis of Huntington’s disease is difficult,and the characteristic clinical symptoms and family history are particularly important.Gene diagnosis is an effective method for the diagnosis of patients with negative family history.In the next generation,the age of onset was younger and the survival time was shorter.HD patients should be followed up regularly,pre-symptomatic patients should be identified early,and genetic counseling should be provided during the reproductive period.