特发性震颤的临床特点分析

目的探讨特发性震颤（essential tremor,ET）的临床特点。方法回顾性分析98例ET患者的临床资料。结果98例ET中男56例,女42例。发病年龄6～72岁,平均43．08±18．18岁。病程1～48年,平均14．04±11．39年。48例（48．98％）患者有阳性家族史。临床主要表现为单症状的姿势性震颤,累及部位依次为手98例（100％）、头38例（38．78％）、下肢28例（28．57％）、咽喉部16例（16．33％）、下颏10例（10．20％）等。64例患者做了饮酒试验,其中58例（90．63％）有酒精反应。84．62％的患者服用盐酸阿罗洛尔治疗有效。结论特发性震颤的临床表现以单症状姿势性震颤为主,手及头部受累明显,多数患者对酒精有反应,盐酸阿罗洛尔治疗有效。     

特发性震颤的临床特点分析

目的探讨特发性震颤(essential tremor,ET)的临床特点。方法对92例ET患者的临床资料进行回顾性分析。结果92例ET中男58例,女34例,发病年龄12～80岁,平均(50.2±17.3)岁,病程6个月～60年,平均(16.2±8.9)年。49例(53.3%)患者有阳性家族史,多呈常染色体显性遗传,临床主要表现为单症状的姿势性震颤,累及部位依次为手(92.4%)、头(25.0%)、咽喉部(21.7%)、下颏(15.2%)等。16.3%患者因震颤致日常生活困难。42例饮酒患者中,85.7%显示对酒精有反应性。6.5%患者并发帕金森病(Parkinson’s disease,PD)。67.3%患者小剂量普萘洛尔治疗有效。结论本组ET患者男多于女,临床表现为单症状姿势性震颤,部分病例可伴发PD,小剂量普萘洛尔治疗大多有效。     

生理性震颤与特发性震颤的评分比较

目的　通过震颤幅度评分 ,对生理性震颤 (PT)和特发性震颤 (ET)进行鉴别。方法　采用震颤幅度评分和 6项任务震颤幅度评分法 ,对 63例PT患者 (PT组 )和 38例ET患者 (ET组 )的上肢震颤幅度进行比较。结果　PT组与ET组震颤幅度评分差异无显著性 (P >0 0 5)。 6项任务震颤幅度评分差异有高度显著性 (P <0 0 1 )。PT组两项任务震颤评分接近或 >2分 ,而且非利手评分 >利手 ,差异有显著性 (P <0 0 5)。ET组 4项任务震颤评分 >2分 ,差异有显著性 (P <0 0 5) ,但利手与非利手间差异无显著性 (P >0 0 5)。结论　对上肢震颤幅度进行评分量化分析有助PT与ET的鉴别诊断     

特发性震颤的治疗研究进展

<正>特发性震颤(essential tremor,ET)是一种被定义为\"双侧上肢动作震颤\"的综合征,是成人最常见的运动障碍之一~([1])。目前普萘洛尔和扑米酮仍是第一线用于治疗特发性震颤的口服药物~([2])。然而关于治疗的长期疗效知之甚少,因为很少有试验进行长期随访。很少有Ⅰ类证据证明干预措施有其疗效。手术治疗方案的出现为受影响最严重的患者提供了新的选择。在过去的10 y中,从化学去神经到非侵入性神经调节的新型治疗方法为该领域带来了新的希望。在撰写这篇综述时,美国神经病学学会(AAN)和意大利运动障碍协会(IMDA)都为原发性震颤的治疗制定了指导方针~([3])。本文拟对指南中强调推荐药物、化学去神经、外科干预措施、生活方     

特发性震颤的研究进展

特发性震颤（ET）的病因可能包括环境和遗传因素。血中哈尔碱和铅浓度的增高可能和ET发病有关。遗传具有异质性,目前已经发现有3个基因位点可能与其发病有关,GABA转运体1型（GABA transporter subtype1,GAT1）可能为另一个候选基因。除震颤外,ET患者还可有小脑体征、执行功能受损和痴呆等表现。目前有一些新的辅助检查手段帮助鉴别ET,尤其是与早期帕金森病震颤相鉴别。一些新的药物也被证实有效。     

特发性震颤的临床和电生理学特点

目的 探讨特发性震颤(EI)的临床和电生理学特点.方法 回顾性分析并比较33例ET患者(ET组)和30例生理性震颤患者(对照组)的震颤类型、程度、幅度和负重对其的影响,以总结ET的临床和电生理学特点.结果 ET组患者动作性震颤(KT)的震颤程度明显高于对照组,震颤幅度明显大于对照组(均P＜0.01);而姿势性震颤(PT...     

特发性震颤的个体化治疗

目的探讨特发性震颤的个体化治疗方案。方法选择于我院神经内科门诊就诊的特发性震颤患者120例,依据个体化特点,制定不同的治疗方案,并随访6周。治疗前后进行震颤分级量表评分,同时使用药物副反应量表评定不良反应。结果 46例患者因震颤轻微未治疗;21例患者因震颤仅影响工作,予以临时性治疗(其中应用小剂量酒精4例,普萘洛尔11例,阿罗洛尔6例);53例因震颤影响日常生活及工作接受长期药物治疗(其中应用普萘洛尔14例,阿罗洛尔18例,普拉克索9例,托吡酯12例)。接受长期药物治疗的特发性震颤患者,治疗后震颤评分明显下降,差异有统计学意义(P0.05)。治疗过程中2例发生低血压,1例出现幻觉,药物减量后消失。结论根据不同特发性震颤患者的具体因素,选择个体化治疗方案,疗效满意。     

特发性震颤的研究现状

特发性震颤 (ｅｓｓｅｎｔｉａｌｔｒｅｍｏｒ,ＥＴ)是一种较常见的运动功能障碍 ,表现为上、下肢或头面部、甚至躯干的震颤或不自主运动[1] 。属常染色体显性遗传病 ,多呈散发。由于对其认识不足 ,虽然患病率高于帕金森病、多发性硬化 ,但临床诊断率并不是很高。1　病因及流行病学早在十九世纪就有人描述了特发性震颤 ,1887年Ｄａｎａ首次完整地报告一个家系中的特发性震颤病例。 194 9年Ｃｒｅｔｃｈｌｅｙ在“特发性震颤的观察”中第一次全面完整地描述了该病的自然史和表现[1] 。ＥＴ系常染色体显性遗传病 ,多散发 ,17.4 %～ 96 %有家族…     

特发性震颤一个家系15例临床分析

特发性震颤 ( essentialtrem or)可有遗传因素 ,常通过染色体显性遗传。国内发病率尚无统计资料 ,本文报告一家系15例患者 ,现分析如下。1　临床资料先证者 ( IV4) ,男 ,6 4岁 ,退休教师。因双手震颤 2 7年 ,加重 2年于 2 0 0 1年 12月入院。患者 37岁始书写时出现右手震颤 ,5 0岁时在书写、手持物时震颤十分明显 ,站立数分钟或蹲位时 ,双下肢震颤 ,振幅较大。近 2年来 ,穿衣、饮水、进食、大便都需要人帮助。患者 16岁始嗜酒 ,48岁戒酒。查体 :发育正常 ,营养差 ,心肺腹无异常 ,神清语明 ,智力正常 ,颅神经( - ) ;四肢肌力 ,肌张力正常。…     

Objective tremor registration during DBS surgery for Essential Tremor

Essential Tremor (ET) is characterized by a 4–12-Hz postural and kinetic tremor, most commonly affecting the upper limbs. Deep brain stimulation (DBS) of the thalamus (Vim) has been found to be highly effective in severe/refractory forms of ET. Intra-operative assessment of tremor is performed using clinical methods based on patient and physician perception of tremor intensity. We present for the first time the case of a patient whose tremor was objectively monitored/quantified pre- and intra-operatively using device-based tremor registration to supplement clinical measures.     

A clinical study of non-parkinsonian tremor in Moroccan patients

Objective

To report the characteristics of the most frequent tremors in a population of Moroccan patients.

Background

Tremor is the most common movement disorder. It implies a wide variety of disorders with Parkinson's disease and essential tremor being the most frequent.

Methods

A retrospective study of 148 patients with tremor referred to our movement disorders outpatient clinic was performed. Clinical features and treatment regimens were analyzed. Patients with parkinsonian tremor were excluded.

Results

We included 62 patients with non-parkinsonian tremor. The etiologies were as follows: essential tremor (54.8%), dystonic tremor (19.4%), tremor associated with dystonia (14.5%), enhanced physiological tremor (3.2%), cerebellar tremor (3.2%), psychogenic tremor (3.2%) and Holmes’ tremor (1.6%). The characteristics of essential tremor patients were analyzed. Female patients accounted for 67.6% of patients. Mean age at the onset of tremor was 52.2 ± 16.4 years. Family history of tremor was reported in 17.6% of cases. Tremor affected the arms (94.1%), head (52.9%), voice (35.3%) and legs (8.8%). Tremor was bilateral in 87.5% but was asymmetrical in 50% of patients. Patients had postural tremor (76.5%), kinetic tremor (79.4%) and rest tremor (associated in 11.8%). Treatment relied on propranolol (88.3%), primidone (14.7%), gabapentin (14.7%), clonazepam (14.7%), alprazolam (11.8%), topiramate (5.9%) and, in one patient, radiosurgery.

Conclusions

Essential tremor was the predominant diagnosis, confirming its high prevalence. There was a predominance of female patients and a peak of age at onset in the fifth and sixth decades. Asymmetry of the disease was noted in half of patients.     

Essential tremor: Is the word “essential” really essential?

Essential tremor (ET) is among the common movement disorders. A surge in research in recent years has considerably improved our understanding of disease etiology and pathogenesis, and its associated clinical phenomenology and natural history. With this progress have emerged a multitude of new questions and conundrums and newly proposed terminologies. Amidst these various related discussions, it is worth revisiting the essence of the nomenclature, “essential tremor”, to assess how well it continues to fit the growing understanding of this entity.Here we revisit the historical underpinnings of the nomenclature, its accuracy, pitfalls of eliminating the word, and advantages of removing the word. There are two primary historical bases for using the word “essential”: (i) idiopathic or unclear etiology, (ii) a unitary (single-featured) trait perceived as a constitutional feature. Numerous studies indicate that ET is neither truly idiopathic nor is fully isolated, making the use of “essential” technically incorrect. There are pitfalls and advantages of eliminating the term “essential” and both are succinctly described in this article. Yet in the absence of any flawless alternatives at present, we conclude that it is preferable for now to persist with “essential” tremor, thereby respecting the historical continuity of this one-and-a-half-century old nomenclature.     

Orthostatic tremor: A review of 45 cases

ObjectiveTo evaluate the clinical characteristics, associated features, and treatment response of a large orthostatic tremor series seen over a 26-year period.MethodsWe reviewed the medical records of 45 patients seen between 1987 and 2013 who fulfilled the diagnostic criteria for orthostatic tremor.ResultsThe mean age at onset was 59.5 years and 23/45 (51%) were men. A family history of any tremor was noted in 23/45 (51%) patients. A family history of orthostatic tremor was reported in 3/45 (7%) patients. 40/45 (89%) had primary orthostatic tremor with (n = 30) or without (n = 10) an associated postural arm tremor. We found that 5/45 (11%) had orthostatic tremor plus additional neurological features. One patient was diagnosed with dementia with Lewy bodies preceded by orthostatic tremor for 20 years. Prospective follow-up data was available for 30/45 patients and averaged 54.4 months. Treatment response to medications was modest and inconsistent. In 11/30 cases, orthostatic tremor worsened over the follow-up period. One patient with primary orthostatic tremor underwent thalamic deep brain stimulation surgery.ConclusionsIn our population of orthostatic tremor patients, mild postural hand tremor was a frequent finding. Over half of our patients had a family history of tremor, but a family history of orthostatic tremor was uncommon. Additional neurological features were seen in the minority of patients and we report possibly the first case of dementia with Lewy bodies associated with orthostatic tremor. Our series is the largest series of orthostatic tremor reported in the literature and contributes to understanding the clinical characteristics of this rare disease.     

Head tremor in essential tremor: “Yes–yes”, “no–no”, or “round and round”?

IntroductionEssential tremor (ET) is a common yet frequently misdiagnosed movement disorder. One contributing factor may be the dearth of studies that focus on the nuances of clinical phenomenology. A clinical feature that has received relatively little attention is head tremor. Indeed, there is no consensus regarding the predominant direction of head tremor in ET, and no study has examined the clinical correlates of directionality.MethodsWe identified 51 ET cases with head tremor enrolled in a clinical-epidemiological study of ET at Columbia University. Each had a videotaped neurological examination. Videotapes were viewed and coded by a movement disorders neurologist for head tremor direction (“no–no”, “yes–yes”, or mixed) and continuity (continuous, intermittent, or rare). Direction was correlated with a wide range of clinical features.ResultsFourteen cases (27.5%) had “no–no” tremor, 9 (17.6%) had “yes–yes” tremor, and 28 (54.9%) had a mixed tremor. Mixed and “yes–yes” cases were older (p = 0.004) and had a longer tremor duration (p = 0.018) than “no–no” cases. Tremor severity (arms) was higher for mixed cases than for “yes–yes” and “no–no” cases (p = 0.04). More mixed cases had continuously present tremor while more “no–no” cases had rare head tremor (p < 0.001).ConclusionsHead tremor in ET seems to start as an infrequent tremor in one direction (esp. “no–no”) and becomes more frequent while acquiring additional directionality and a mixed phenotype as the disease progresses. These findings add to our understanding of the clinical spectrum of ET.     

Investigating the role of FUS exonic variants in Essential Tremor

Essential Tremor is the most common form of movement disorder. Aggregation in families suggests a strong genetic component to disease. Linkage and association studies have identified several risk loci but the specific causal variants are still unknown. A recent study using whole exome sequencing identified a rare nonsense variant in the FUS gene (p.Q290X) that segregated with Essential Tremor in a large French Canadian family. In addition, two other rare FUS variants were identified (p.R216C and p.P431L) in Essential Tremor patients however co-segregation analysis with disease was not possible. In the present study, we sequenced all 15 exons of FUS in 152 familial probands with Essential Tremor and genotyped three reported FUS variants in 112 sporadic Essential Tremor patients and 716 control subjects recruited at Mayo Clinic Florida. Only known synonymous SNPs unlikely to be pathogenic were detected in our sequencing and not any of the recently identified mutations or novel ones. We conclude that the FUS mutations associated with risk of Essential Tremor are probably a rare occurrence.