家族型特发性震颤的临床分析
Clinical Analysis of Familial Essential Tremor
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摘要: 目的 对特发性震颤 (essential tremor, ET) 患者进行研究, 以便于更深一步认识疾病的遗传特点和疾病转归.方法 对7个家族39名特发性震颤患者的发病年龄、病程和震颤幅度、药物敏感性、并发症等相关性进行临床总结和统计分析.结果 震颤幅度和发病年龄相关系数为rs=0.542, 和病程相关系数rs=0.168;口服盐酸普萘洛尔在中青年组和老年组有效率分别为79.2%和35.7%, P=0.014;饮酒试验在中青年组和老年组有效率分别为66.7%和28.6%, P=0.042;中青年组和老年组并发症发生率分别为8.3%, 42.9%, P=0.042.结论 随着发病年龄的增长, 听力下降和认知功能下降等并发症明显增多;随着病程延长, 震颤幅度不断增加, 药物敏感性逐渐下降。提示:ET易向其它变性疾病转化, 易合并其它变性疾病, 这种变化和年龄、遗传有一定相关性, 而非传统认为的单纯良性疾病.Abstract: Objective To further understand the genetic characteristics and the outcome of Familial essential tremor.Methods Clinical summary and statistical analysis were performed on the onset age, course of disease of ET, whether it is related to tremor amplitude, drug sensitivity and complication of 39 patients in 7families. Results The correlation coefficient between tremor amplitude and age at onset was rs =0.542, Correlation coefficient of tremor amplitude and duration rs =0.168; The effective rates of oral propranolol in young middle-aged group and elderly group were 79.2% and 35.7%, P=0.014; The effective rates of drinking test were 66.7% and 28.6%, P = 0.042, respectively, in young middle-aged group and elderly group;The incidence of complications in young middle-aged group and elderly group was 8.3% and 42.9%, respectivdy P =0.042.Conclusions With the growth of onset age, hearing loss and cognitive decline and other complications increase significantly; With the duration of the disease, tremor increases amplitude, drug sensitivity gradually decreases.It suggests that ET is easy to transform to other degenerative diseases, also easy to merge other degenerative diseases, This change has a certain relevance with age and heredity. Is is rather than a simple benign disease.
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[1]蒋雨平, 王坚, 蒋雯巍, 等.新编神经疾病学[M].上海:上海科学普及出版社, 2014:378-379. [2]中华医学会神经病学分会帕金森病及运动障碍学组.原发性震颤的诊断和治疗指南[J].中华神经科杂志, 2009, 42 (8) :571-572. [3] [3]SULICA L, LOUIS E D.Clinical characteristics of essential voice tremor:a study of 34 cases[J].Laryngoscope, 2010, 120 (3) :516. [4]简斌, 张涛, 肖俊会.云南汉族人群CYP2C19基因多态性分析[J].昆明医科大学学报, 2015, 36 (11) :17-19. [5] [5]BENITO-LEON J, LOUIS E D.Update on essential tremor[J].Minerva Med, 2011, 102 (6) :417. [6] [6]BUIJINK A W, BROERSMA M.Cerebellar Atrophy in Cortical Myoclonic Tremor and Not in Hereditary Essential Tremor-a Voxel-Based Morphometry Study[J].Cerebellum, 2016, 15 (6) :696-704. [7]王波, 安鸿飞, 张洁, 等.3.0T MR磁敏感加权成像对早期帕金森病黑质致密带的研究[J].昆明医科大学学报, 2014, 35 (2) :27-30. [8]赵英, 武绍远, 吴昆华.帕金森氏病精神障碍的磁共振弥散张量[J].研究昆明医科大学学报, 2014, 35 (1) :63-67. [9] [9]YILMAZ N H, AKBOSTANCI M C, YILMAZ N.Sensorineural hearing loss in non-depressed essential tremor cases and controls:A clinical and audiometric study[J].Tremor&Other Hyperkinetic Movements, 2015, 29 (5) :281. [10] [10]LOUIS E D.Essential Tremor:A common disorder of purkinje neurons[J].Neuroscientist, 2015, 22 (2) :108-118. [11] [11]WU Y W, PRAKASHK, RONG T Y, e tal.Lingo2variants associated With essential tremor and Parkinson'sdisease[J].Human Genetics, 2011, 129 (11) :611-615. [12]和茵, 赵丹楠, 王云燕.脑电深部刺激法治疗帕金森病的护理体会[J].昆明医科大学学报, 2015, 36 (1) :176-177. [13]耿鑫, 龚会军, 余化霖.脑深部电刺激治疗帕金森病1例报道[J].昆明医科大学学报, 2014, 35 (5) :153-155. [14]黄微, 陈晶菁, 戴萍.原发性震颤误诊为帕金森病25例临床分析[J].昆明医科大学学报, 2015, 36 (5) :150-152. [15] [15]YALTHO T C, ONDO W G.Orthostatic tremor A review of 45 cases[J].Parkinsonism Relat Disord, 2014, 20 (7) :723-725. [16]何月, 彭巧玲, 周国庆.帕金森病患者血尿酸水平与认知功能的相关性研究[J].川北医学院学报, 2016, 31 (2) :214-216. [17]张树山, 朱陶, 李程旭, 帕金森病非运动症状临床特点研究[J].川北医学院学报, 2016, 31 (4) :520-524. [18]鲍娟, 谈跃, 曹海.帕金森病患者轻度认知损害与胰岛素抵抗的相关性[J].昆明医科大学学报, 2015, 36 (12) :47-51. [19]黄璞, 李国萍, 陈绍春.FUS/TLS在基因表达调控中的作用及与神经退行性疾病的关系[J].昆明医科大学学报, 2016, 37 (8) :1-4. -
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