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原发性震颤家族聚集性分析

Familial aggregation of essential tremor: An analysis of 2 cases

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【作者】 蔡松泉张申宁蔡加楼

【Author】 CAI Song-quan1,ZHANG Shen-ning2,CAI Jia-lou3(1.Department of Neurology,Drum Tower Hospital Affiliated to Nanjing University School of Medicine,Nanjing 210008,Jiangsu,China;2.Department of Neurology,Nanjing General Hospital of Nanjing Military Command,PLA,Nanjing 210002,Jiangsu,China;3.Department of Internal Medicine,Qinhuai Hospital of Nanjing,Nanjing 210006,Jiangsu,China)

【机构】 南京大学医学院附属鼓楼医院神经内科南京军区南京总医院神经内科南京市秦淮医院内科

【摘要】 目的:探讨原发性震颤(ET)的临床和家系特点。方法:回顾2例原发性震颤患者的临床特点和家族史。结果:ET先证者均表现为意向性震颤,饮酒后减轻。两家系一级、二级亲属患病率分别为55.6%和43.7%,β受体阻滞剂普奈洛尔(心得安)治疗有效。结论:ET的临床表现以姿势性或意向性震颤为主,手及头部受累明显,多数患者饮酒试验阳性,大多数ET患者具有家族遗传性。

【Abstract】 Objective: To investigate the clinical and familial characteristics of essential tremor(ET).Methods: The clinical features and familial history of 2 ET patients were reviewed.Results: The clinical manifestation of the probands was intentional tremor,which could be ameliorated by alcohol.The incidence of the disease was 55.6% and 43.7% among the first-and second-degree relatives of the two families.Propranolol,a β-adrenoceptor antagonist,was an effective drug for ET.Conclusion: Clinically ET is characterized by postural or intentional tremor,which mostly involves the hands and head.Positive result of the alcohol test is shown in most ET patients.It is commonly assumed to be a genetic disease.

【关键词】 原发性震颤遗传诊断治疗
【Key words】 Essential tremorGeneticsDiagnosisTreatment
【基金】 江苏省中医药科技研究专项课题基金资助(批准号:HZ07032)
  • 【文献出处】 医学研究生学报 ,Journal of Medical Postgraduates , 编辑部邮箱 ,2008年12期
  • 【分类号】R741
  • 【下载频次】53
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