特发性震颤的临床特点

目的　探讨特发性震颤 (ET)的临床特点。方法　对 80例 ET患者的临床资料进行分析。结果80例 ET中男 5 0例 ,女 30例 ,发病年龄 3～ 70岁 ,平均 34.6± 16 .3岁 ,病程 6个月～ 6 0年 ,平均 14.2± 9.9年。45例 (5 6 .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 .5 % )、咽喉部 (2 1.3% )、头 (2 0 % )、下颏 (17.5 % )等。 17.5 %患者因震颤致日常生活困难。 34例饮酒患者中 ,91.2 %显示对酒精有反应性。 6 .3%患者并发帕金森病 (PD)。 6 1%患者小剂量心得安治疗有效。结论　本组 ET患者男多于女 ,发病年龄轻 ,呈单峰模式 ,临床表现为单症状姿势性震颤 ,部分病例可伴发PD,小剂量心得安治疗大多有效。     

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。     

家族性特发性震颤5例报告

特发性震颤 (ET)是一种运动紊乱常染色体显性遗传病 ,多呈散发 ,1 7.4 %～ 1 0 0 %有阳性家族史 ,多在 65～ 70岁前完全外显[1 ,2 ] 。其发病率高于帕金森病 (PD) [1 ] ,但误诊率较后者高 ,主要是 :(1 ) ET缺乏统一诊断标准 ;(2 )不典型 ET和 PD的亚型相似 ;(3 ) PD和 ET合并存在 ;(4 )增强的生理性震颤病因未详查 [2 - 4 ]。本组先证者曾误诊为 PD。报告如下 :1　病例报告 :　先证者男 ,4 8岁。因发热就诊时发现手抖请神经科会诊。诉 3 5岁始右手抖动 ,曾诊断为 PD,未治疗。初发于运动时 ,情绪激动、受刺激加重 ,休息时消失 ,饮白…     

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。…     

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。     

合并静止性震颤的原发性震颤患者临床特点分析

目的了解北京地区社区中老年人原发性震颤(essential tremor,ET)的临床特征及其与预后的关系。方法2000年在北京城区、近郊平原、远郊山区调查了2835名55岁以上中老年人,采用筛查和临床诊断两步法确诊患者。发现ET患者135例,对其中合并静止性震颤的患者进行分析,并于2004年对其进行随访。结果其中合并上肢静止性震颤患者17例,占12.6%,合并静止性震颤组震颤总分、头部震颤的比例、肢体震颤总分均明显高于对照组。两组年龄、性别组成、病史无显著性差异,姿势性震颤和动作性震颤的程度差异不明显。4年后随访到13例(13/17),其中3例死亡,实际调查的10例中有9例仍诊断为ET,另1例诊断为临床很可能ET。结论有相当部分社区ET患者可以合并静止性震颤,合并静止性震颤的患者提示病情较重。     

原发性震颤三家系分析

目的探讨原发性震颤的临床表现、家系特点及治疗。方法对3例原发性震颤患者的临床特点和家族史进行分析。结果ET在同一家族中男女均可发病,3例先证者一级、二级亲属患病率分别为：41.2%、40.0%和50.0%。结论原发性震颤是具有家族遗传性的疾病,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,β受体阻滞剂普奈洛尔治疗有效。     

Topography of essential tremor

IntroductionTopography of tremor manifestations is poorly investigated in essential tremor. The present study explores the prevalence and clinical correlates of head and/or voice tremor in essential tremor.MethodsOut of a prospectively designed registry of 972 patients, 884 patients with definite and probable essential tremor had complete information on tremor localization. Demographic and clinical characteristics were compared among four subgroups: group A (without head or voice tremor, n = 619), B (with head but without voice tremor, n = 155), C (with voice but without head tremor, n = 47), and D (with both head and voice tremor, n = 63).ResultsIn our patients, total prevalence of tremor was 24.7% for head, 12.4% for voice and 7.1% for the combination of head and voice. Logistic regression analyses showed that female gender is strongly associated with head tremor, which was confirmed by an additional meta-analysis. Severe hand tremor was the only factor associated with voice tremor. Both female gender and severe hand tremor increase the odds for having the combination of head and voice tremor. For males, hand tremor severity is significantly increased among those with head and voice tremor alone and in combination, but for females only for the combination. Patients with both head and voice tremor have more frequent involvement of legs and other localizations and are less responsive to β-blockers.ConclusionsFemale gender and severe hand tremor may increase the odds of head and/or voice tremor in essential tremor. The association of hand tremor severity with midline tremor is stronger for males than females.     

Directionality of corticomuscular coupling in essential tremor and cortical myoclonic tremor

ObjectiveA role of the motor cortex in tremor generation in essential tremor (ET) is assumed, yet the directionality of corticomuscular coupling is unknown. Our aim is to clarify the role of the motor cortex. To this end we also study ‘familial cortical myoclonic tremor with epilepsy’ (FCMTE) and slow repetitive voluntary movements with a known cortical drive.MethodsDirectionality of corticomuscular coupling (EEG-EMG) was studied with renormalized partial directed coherence (rPDC) during tremor in 25 ET patients, 25 healthy controls (mimicked) and in seven FCMTE patients; and during a self-paced 2 Hz task in eight ET patients and seven healthy controls.ResultsEfferent coupling around tremor frequency was seen in 33% of ET patients, 45.5% of healthy controls, all FCMTE patients, and, around 2 Hz, in all ET patients and all healthy controls. Ascending coupling, seen in the majority of all participants, was weaker in ET than in healthy controls around 5–6 Hz.ConclusionsPossible explanations are that tremor in ET results from faulty subcortical output bypassing the motor cortex; rate-dependent transmission similar to generation of rhythmic movements; and/or faulty feedforward mechanism resulting from decreased afferent (sensory) coupling.SignificanceA linear cortical drive is lacking in the majority of ET patients.     

路易体痴呆八例临床分析

目的探讨路易体痴呆的临床特征,诊断和治疗。方法对8例临床诊断的路易体痴呆患者的资料进行回顾性分析。结果8例患者的首发症状均为波动性认知功能障碍,伴随持续存在的视幻觉和帕金森综合征表现。主要为中度痴呆,视空结构能力损害明显;波动性认知功能障碍(FC)评分为4~10,平均7 4±2 1,为轻至中度波动;统一帕金森病等级量表(UPDRS)评分为31 ~71,平均47 8±14 3。1例有快眼动相(REM)睡眠行为障碍的患者REM睡眠期颏下肌电图出现大量电活动。8例患者头部MRI及CT扫描均显示脑萎缩。1例脑单光子发射计算机体层摄影术(SPECT)检查显示纹状体多巴胺功能受损。左旋多巴和胆碱酯酶抑制剂盐酸多奈哌齐治疗有效。结论路易体痴呆的临床特征为波动性认知功能障碍、持续存在的视幻觉和锥体外系运动功能障碍,诊断以病史、神经心理测试和影像学检查为依据,左旋多巴、胆碱酯酶抑制剂可分别改善患者的锥体外系症状和认知功能障碍。     

微电极导向立体定向手术治疗原发性震颤

目的：探讨丘脑腹外则Vim核中与震颤症状相关的神经细胞电活动的规律,总结丘脑毁损术治疗原性震颤（ET）的临床效果和安全性。方法：对42例ET患者行单侧微电极导向的丘脑毁损术。采用FAHN的临床震颤评分法对其中11例患者术前及术后进行定量评估和分析。结果：Vim核中神经细胞的簇状电活动节律与肢体震颤的节律有肯定的一致性,毁损这些与震颤症状相关的神经细胞后,所有ET患者手术对侧肢体的震颤完全消失;震颤的整体改善率52％,特殊动作和功能改善54％,功能残疾改善率77％,长期随访疗效稳定,其中40例患者的震颤症状密切相关,毁损这些细胞能完全永久性地消除震颤症状。     

Clinical and electromyographic examinations of Parkinsonian tremor

Background: The clinical presentations of postural Parkinsonian tremor are variable and different types of tremors have been described. The aim of this study was to re-evaluate the clinical and electromyographic (EMG) pattern of different tremors in Parkinsonian patients.

Methods: One hundred and ten patients with Parkinsonian tremor were included in the study. Patients were subdivided into four groups according to the presence or absence of postural tremor, in addition to a resting tremor and its EMG pattern. The first group consisted of patients without postural tremor. The second group consisted of patients with fast postural tremor (>7 Hz). The third group consisted of patients with slow postural tremor with alternating EMG activity. Patients with slow postural tremor with synchronous EMG activity were included in the fourth group. In each limb position, the tremor of the most involved body part was graded on the Webster Tremor Scale. Surface EMG recordings of the most involved limb in all positions were performed.

Results: Postural tremor in addition to the rest one was found in 84% of the patients. The postural tremor was with lower amplitude than the rest one. The frequencies and EMG patterns of the postural tremors were different and correlated with some specific clinical symptoms. Patients with alternating postural tremor had a kinetic and intention tremor in addition.

Conclusions: Four different subtypes of Parkinsonian tremor were found according to the presence and type of postural tremor. These subtypes had some differing clinical characteristics and probably different relationships to essential tremor.     

Ataxia and tolerance after thalamic deep brain stimulation for essential tremor

BackgroundDeep brain stimulation (DBS) of the ventral intermediate nucleus (VIM) thalamus is highly effective to treat medication-refractory essential tremor (ET). Complications of stimulation-induced ataxia and tolerance have been reported in limited series, ranging from 5 to 40%.ObjectiveWe analyzed a large single-center cohort of ET patients treated with thalamic DBS to assess rates of ataxia and tolerance.MethodsRetrospective study of all ET patients that underwent VIM DBS at Mayo Clinic from 2010 to 2014. Demographic, clinical and DBS data were extracted. Risk factors, complications and time to onset of tolerance and ataxia were examined.ResultsOne hundred and thirteen ET patients (51% male) of mean age 68 ± 10 years and mean ET duration 27 ± 18 years underwent DBS during the study period. Of these, 98 (87%) had follow-up of ≥6 months (mean 4.0 ± 1.5 years) and were included for analysis. Complications of isolated ataxia (26%), isolated tolerance (4%), both tolerance and ataxia (9%), or neither (61%) were identified. Development of ataxia was about 3 times more common than tolerance (35% vs. 13%). The mean time to ataxia was 5.5 ± 0.3 years postoperatively. Risk factors for ataxia were baseline ataxic features, older age, and shorter ET disease duration. Small sample size limited calculation of risk factors and onset time for tolerance.ConclusionsStimulation-related ataxia occurred in one-third of ET patients, while tolerance was less common. Presence of baseline ataxia, age, and disease duration may aid counseling of stimulation-related ataxia risk. Larger studies are warranted to confirm these findings and further assess risk factors for tolerance.     

Computerized tremor analysis of valproate-induced tremor: a comparative study of controlled-release versus conventional valproate

PURPOSE: Valproate (VPA) induces postural tremor in 6-45% of patients. The characteristics of VPA-induced tremor have not yet been quantitatively assessed, and it is not known whether tremor prevalence or severity is affected by VPA formulation (controlled-release CR-VPA vs. conventional VPA). The aim of this study was quantitatively to assess tremor in epilepsy patients receiving VPA and to compare the effects of two VPA formulations (CR-VPA vs. VPA) on tremor severity. METHODS: In a prospective study, 18 consecutive patients with newly diagnosed focal or generalized epilepsy were assigned to receive alternately either VPA (n=10) or CR-VPA (n=8) monotherapy. Computerized tremor analysis was performed at baseline 1 day before initiating VPA treatment and repeated after a seizure-free period of >or=8 weeks, during which VPA doses had remained stable. Rest and postural tremor were recorded by accelerometry, and surface electromyograms (EMGs) were recorded from the wrist flexors and extensors. RESULTS: At baseline, the two groups had similar postural tremor amplitudes. At follow-up, the CR-VPA group had remained at the same level, whereas VPA subjects exhibited a significant increase in tremor amplitudes (p<0.05) despite comparable VPA doses and comparable plasma VPA concentrations at the time of tremor testing. CONCLUSIONS: This is the first study to assess quantitatively VPA-induced tremor by standardized tremor analysis. These results suggest that CR-VPA may cause less tremorigenic activity as compared with standard VPA. The mechanisms underlying this difference are unclear but may include greater peak-trough variation with VPA than with CR-VPA.