Tremor and Other Hyperkinetic Movements最新文献

英文中文

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. 抓住罪魁祸首：合唱可能是先天性代谢错误的信号。

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2023-10-06 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.801

Juan Darío Ortigoza-Escobar

Background: Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.

Methods: A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.

Results: The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.

Discussion: This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.

背景：运动障碍，特别是舞蹈病，在先天性代谢错误中并不常见，但识别它们对于改善临床结果至关重要。在这种情况下，对运动障碍的全面描述是有限的，主要来源于单个病例或小患者系列，这突出了在该领域提高认识和进行额外研究的必要性。方法：使用MEDLINE数据库和GeneReviews进行系统综述。这项研究包括与舞蹈病、手足徐动症或球蛋白增多症相关的先天性代谢错误的研究。审查遵循了PRISMA指南。结果：系统综述分析了2350份记录中的76项研究，涵盖1964年至2022年。173例患者中90.1%出现舞蹈病，5.7%出现手足徐动。各种先天性代谢错误与舞蹈病有关，其中微量元素和金属最为常见。认知和发育异常在队列中很常见。常见的神经系统特征包括癫痫发作、构音障碍和视神经萎缩，而非神经系统特征则包括面部畸形和发育不良。神经影像学和生化测试在辅助诊断中发挥着至关重要的作用，分别有34.1%和47.9%的患者出现异常。然而，运动障碍的症状治疗效果有限。讨论：这项研究强调了先天性代谢错误引起的舞蹈病的复杂性。诊断需要一种系统的方法，包括危险信号、生化测试和神经成像。神经学家、遗传学家和代谢专家之间的合作对于改善早期检测和个体化治疗至关重要。利用基因检测技术和潜在的治疗途径可以帮助改善患者的预后。

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引用次数: 0

Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor. MAPT基因变异引起的额颞叶痴呆性帕金森综合征伴静息和活动性震颤。

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2023-09-21 eCollection Date: 2023-01-01 DOI: 10.5334/tohm.804

Shakya Bhattacharjee, Christopher Kobylecki

A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy. Genetic testing revealed a heterozygous c.915+16C>T pathogenic variant in intron 9 of the MAPT gene. Presentation with rest tremor should not exclude frontotemporal dementia-parkinsonism due to a MAPT variant as a differential diagnosis though rest tremor is a rare presentation.

一名50岁男性，有四年的右下肢远端逐渐进行性静息震颤病史，然后在过去10-12个月内扩散到左下肢。两年后，他出现了右臂休息和动作震颤。磁共振成像扫描显示进行性额颞叶和不对称的近中颞叶萎缩。基因检测显示MAPT基因内含子9中存在杂合的c.915+16C>T致病性变体。尽管静息震颤是一种罕见的表现，但静息震颤的表现不应排除MAPT变异引起的额颞叶痴呆性帕金森病作为鉴别诊断。

引用次数: 0

Evolving Concepts in Our Understanding and Treatment of Holmes Tremor, Over 100 Years in the Making 在我们的理解和治疗福尔摩斯震颤的概念演变，超过100年的制作

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-05-26 DOI: 10.5334/tohm.683

Grace E. Hey, Wei Hu, J. Wong, T. Tsuboi, Matthew R Burns, A. Ramirez-Zamora

Holmes Tremor (HT) is an irregular, slow-frequency (<4.5 Hz) tremor characterized by a combination of resting, postural, and action tremors mostly of the upper extremities. Symptoms of HT typically emerge 4 weeks to 2 years after a brain injury caused by a spectrum of etiologies. HT pathophysiology is thought to result from aberrant collateral axonal sprouting and synaptic dysfunction following neuronal damage. To date, the dopaminergic nigrostriatal system, cerebello-thalamo-cortical pathway, and dentate-rubro-olivary pathway have all been implicated in the clinical manifestations of HT. The diversity of HT etiologies usually requires a personalized treatment plan. Current treatment options include carbidopa-levodopa, levetiracetam, and trihexyphenidyl, and surgical management such as deep brain stimulation in selected medication-refractory patients. In this review we discuss the pathophysiology, etiology, neuroimaging, and the latest clinical guidelines for care and management of HT.

霍尔姆斯震颤(HT)是一种不规则、慢频率(<4.5 Hz)的震颤，其特征是静止、体位和动作性震颤，主要发生在上肢。HT的症状通常出现在由一系列病因引起的脑损伤后4周至2年。热休克的病理生理被认为是由于异常侧支轴突发芽和突触功能障碍后的神经元损伤。迄今为止，多巴胺能黑质纹状体系统、小脑-丘脑-皮质通路和齿状-红丘-橄榄通路均与HT的临床表现有关。HT病因的多样性通常需要个性化的治疗方案。目前的治疗方案包括卡比多巴-左旋多巴、左乙拉西坦和三己苯基，以及手术治疗，如对选定的药物难治性患者进行深部脑刺激。在这篇综述中，我们讨论了病理生理学，病因学，神经影像学，以及最新的临床指导方针的护理和管理HT。

引用次数: 3

Clinical and Radiological Follow-Up of a Pfizer-BioNTech COVID-19 Vaccine-Induced Hemichorea-Hemiballismus; Insights Into Mechanisms of Basal Ganglia Dysfunction Pfizer-BioNTech新冠肺炎疫苗诱导的半舞蹈症的临床和放射Follow-Up；对基底节功能障碍机制的见解

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-05-18 DOI: 10.5334/tohm.697

Molly Cincotta, R. Walker

Asymmetric chorea unrelated to structural lesions is typically due to systemic etiologies, such as metabolic, autoimmune, or other inflammatory disorders. This is an editorial commenting on a paper by Batot C, Chea M, Zeidan S, et al. Clinical and radiological follow up of Pfizer-BioNTech COVID-19 vaccine-induced hemichorea-hemiballismus. Tremor and Other Hyperkinetic Movements; 2022; 12(1). DOI: https://doi.org/10.5334/tohm.688. A 90-year-old patient is reported who developed hemichorea shortly after his second vaccination against COVID-19. Hypometabolism was noted in the contralateral striatum. This case provides potential insights and raises questions about mechanisms of immune-mediated hemichorea.

与结构性病变无关的不对称性舞蹈病通常是由系统病因引起的，如代谢、自身免疫或其他炎症性疾病。这是对Batot C、Chea M、Zeidan S等人的一篇论文的评论。Pfizer-BioNTech新冠肺炎疫苗诱导的半电泳半弹道病的临床和放射学随访。震颤和其他高动力运动；2022年；12（1）。DOI：https://doi.org/10.5334/tohm.688.据报道，一名90岁的患者在第二次接种新冠肺炎疫苗后不久出现了半电泳。对侧纹状体出现低代谢。这个案例提供了潜在的见解，并提出了关于免疫介导的半电泳机制的问题。

引用次数: 0

Clinical and Radiological Follow-Up of a Pfizer-BioNTech COVID-19 Vaccine-Induced Hemichorea-Hemiballismus 辉瑞- biontech公司新冠病毒疫苗诱导的脑偏瘫的临床和放射学随访

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-05-18 DOI: 10.5334/tohm.688

Cédric Batot, M. Chea, S. Zeidan, M. Mongin, G. Pop, J. Mazoyer, B. Degos

Background: Hemichorea-hemiballismus is a rare hyperkinetic movement disorder. Case Report: A 90-year-old male developed left hemichorea-hemiballismus after his second dose of the Pfizer-BioNTech COVID-19 vaccine. A wide range of investigations including magnetic resonance imaging did not reveal an alternative cause. [18F]-fluorodeoxyglucose-positron emission tomography (FDG-PET) showed increases in right putamen fixation compared to the left side. The patient showed significant improvement after five days of intravenous corticosteroids, with a normal FDG-PET. Discussion: This hemichorea-hemiballismus case shows dynamic restoration of putamen metabolism mirroring clinical evolution after administration of corticosteroids, suggesting an autoimmune COVID-19 vaccine-induced reaction.

背景:偏瘫是一种罕见的多动运动障碍。病例报告:一名90岁男性在注射第二剂辉瑞- biontech COVID-19疫苗后出现左脑偏瘫。包括核磁共振成像在内的广泛调查没有发现其他原因。[18F]-氟脱氧葡萄糖-正电子发射断层扫描(FDG-PET)显示右侧壳核固定比左侧增加。患者在静脉注射皮质类固醇5天后表现出明显的改善，FDG-PET正常。讨论:本例血凝-半瘫患者在给予皮质类固醇后，壳核代谢动态恢复，反映了临床进化，提示自身免疫性COVID-19疫苗诱导的反应。

引用次数: 7

Movement Disorders in Multiple Sclerosis: An Update 多发性硬化症的运动障碍:最新进展

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-05-04 DOI: 10.5334/tohm.671

R. Ghosh, D. Roy, S. Dubey, Shambaditya Das, J. Benito‐León

Background: Multiple sclerosis (MS), a subset of chronic primary inflammatory demyelinating disorders of the central nervous system, is closely associated with various movement disorders. These disorders may be due to MS pathophysiology or be coincidental. This review describes the full spectrum of movement disorders in MS with their possible mechanistic pathways and therapeutic modalities. Methods: The authors conducted a narrative literature review by searching for ‘multiple sclerosis’ and the specific movement disorder on PubMed until October 2021. Relevant articles were screened, selected, and included in the review according to groups of movement disorders. Results: The most prevalent movement disorders described in MS include restless leg syndrome, tremor, ataxia, parkinsonism, paroxysmal dyskinesias, chorea and ballism, facial myokymia, including hemifacial spasm and spastic paretic hemifacial contracture, tics, and tourettism. The anatomical basis of some of these disorders is poorly understood; however, the link between them and MS is supported by clinical and neuroimaging evidence. Treatment options are disorder-specific and often multidisciplinary, including pharmacological, surgical, and physical therapies. Discussion: Movements disorders in MS involve multiple pathophysiological processes and anatomical pathways. Since these disorders can be the presenting symptoms, they may aid in early diagnosis and managing the patient, including monitoring disease progression. Treatment of these disorders is a challenge. Further work needs to be done to understand the prevalence and the pathophysiological mechanisms responsible for movement disorders in MS.

背景:多发性硬化症(MS)是中枢神经系统慢性原发性炎症性脱髓鞘疾病的一种，与多种运动障碍密切相关。这些疾病可能是由于MS病理生理或巧合。本文综述了多发性硬化症运动障碍的全谱及其可能的机制途径和治疗方式。方法:作者通过在PubMed上搜索“多发性硬化症”和特定运动障碍进行叙述性文献综述，检索截止到2021年10月。根据运动障碍分组筛选、选择相关文章并纳入综述。结果:MS中最常见的运动障碍包括不宁腿综合征、震颤、共济失调、帕金森病、阵发性运动障碍、舞蹈病和弹道病、面部肌无力，包括面肌痉挛和痉挛性麻痹性面肌挛缩、抽搐和抽动症。其中一些疾病的解剖学基础尚不清楚;然而，它们与多发性硬化症之间的联系得到了临床和神经影像学证据的支持。治疗选择是疾病特异性的，通常是多学科的，包括药物、手术和物理治疗。讨论:多发性硬化症的运动障碍涉及多个病理生理过程和解剖途径。由于这些疾病可能是表现症状，它们可能有助于早期诊断和管理患者，包括监测疾病进展。治疗这些疾病是一项挑战。需要进一步的工作来了解多发性硬化症运动障碍的患病率和病理生理机制。

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引用次数: 13

Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis 脊髓小脑性共济失调的临床、放射学和遗传特征:一项基于医院的队列分析

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-04-21 DOI: 10.5334/tohm.686

V. H. Ganaraja, V. Holla, Albert Stezin, N. Kamble, R. Yadav, M. Purushottam, S. Jain, P. Pal

Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12. Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied. Results: A total of 49 patients (34 males, 42 families) were included of which 79.6% belonged to Agarwal community. The mean age at onset and age at presentation were 46.38 ± 11.7 years and 53.16 ± 12.78 years respectively. The most common initial symptom was tremor (73.5%), followed by ataxia (18.4%). At presentation, 95.9% of the patients had tremor with predominant distribution in the bilateral upper limbs (85.7%). At presentation, 73.5% of patients had ataxia and 22.4% had cognitive dysfunction. The mean CAG repeat length in PPP2R2B in the expanded allele was 53.26 ± 6.10 (40–72). The lowest pathogenic expanded repeat sizes in PPP2R2B recorded in our cohort was 40 & 42 repeats from two patients with a consistent clinical phenotype. Another unusual phenotype was the presence of prominent myoclonus. There was no significant correlation between the age at onset of symptoms and the repeat size of CAG repeat. Conclusion: SCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non-Aggarwal families.

简介：脊髓角肌共济失调12型（SCA12）是一种罕见的SCA，最常见于印度阿加瓦尔及其相关家族。在这项研究中，我们描述了大量经基因验证的SCA12的临床、遗传和放射学特征。方法：对我中心经基因证实的SCA12患者进行回顾性分析。对人口统计学、临床和调查结果进行了回顾。研究了扩展重复序列长度与各种人口统计学和临床特征的相关性。结果：共有49名患者（34名男性，42个家庭），其中79.6%属于阿加瓦尔社区。平均发病年龄46.38±11.7岁，平均发病年龄53.16±12.78岁。最常见的初始症状是震颤（73.5%），其次是共济失调（18.4%）。在出现时，95.9%的患者有震颤，主要分布在双侧上肢（85.7%）。出现时，73.5%的患者有共济失调，22.4%的患者有认知功能障碍。PPP2R2B中扩增等位基因的平均CAG重复长度为53.26±6.10（40-72）。在我们的队列中记录的PPP2R2B中最低的致病性扩展重复大小是来自两名具有一致临床表型的患者的40和42个重复。另一个不寻常的表型是存在明显的肌阵挛。症状出现时的年龄与CAG重复大小之间没有显著相关性。结论：SCA12不局限于单一种族。上肢震颤和共济失调是最常见的表现。异常表现可能会导致诊断混乱，尤其是在非Aggarwal家族的患者中进行记录时。

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引用次数: 4

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice 运动障碍的基因诊断。全外显子测序在临床实践中的应用

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-04-20 DOI: 10.5334/tohm.678

Patricio Millar Vernetti, M. V. R. Yanzi, M. Rossi, M. Merello

引用次数: 3

Epidemiology of Pediatric Essential Tremor in the United States: A Systematic Literature Review from 2010 to 2020 美国儿童特发性震颤的流行病学:2010年至2020年的系统文献综述

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-04-19 DOI: 10.5334/tohm.681

M. Gerbasi, A. Eldar-Lissai, K. Lyons

Background: Essential tremor (ET) is one of the most common movement disorders worldwide, yet the size of the pediatric ET population is not well understood. The objective of this review was to identify, evaluate, and synthesize evidence describing the epidemiology of pediatric ET in the United States published between 2010 and 2020. Methods: The authors searched MEDLINE, Embase, and the Cochrane Database of Systematic Reviews using terms related to ET, epidemiology, and pediatric patients. Eligibility criteria included observational studies that reported primary data on pediatric prevalence or incidence of ET or age of onset/diagnosis of ET. A total of 562 unique articles were identified for screening. Results: The review did not identify any studies that reported information on pediatric prevalence or incidence of ET, or age of ET diagnosis among nonpediatric patients. A total of 10 samples were identified, all of which described age of ET onset that ranged from 27.0 years to 56.7 years among 9 adult populations (weighted mean of 41.6 years) and 9.7 years in a single pediatric sample. One adult sample reported that 13% of all ET cases reported onset by age 14, and 21.8% of all ET cases reported onset by age 18. Discussion: There is a notable lack of recent data describing the incidence and prevalence of pediatric ET in the United States. Many children who present with symptoms of ET may not be diagnosed until later in life, and an increased awareness of pediatric ET could allow for early identification and monitoring of these patients.

背景：原发性震颤（ET）是世界范围内最常见的运动障碍之一，但儿童ET人群的规模尚不清楚。本综述的目的是识别、评估和综合描述2010年至2020年间美国儿科ET流行病学的证据。方法：作者使用与ET、流行病学和儿科患者相关的术语搜索MEDLINE、Embase和Cochrane系统评价数据库。资格标准包括观察性研究，这些研究报告了ET的儿科患病率或发病率或ET的发病/诊断年龄的主要数据。共鉴定了562篇独特的文章进行筛查。结果：该综述没有发现任何研究报告了非糖尿病患者中ET的儿科患病率或发病率或ET诊断年龄的信息。共鉴定了10个样本，所有样本均描述了9个成年人群中ET发病年龄为27.0岁至56.7岁（加权平均值为41.6岁），单个儿科样本中ET发病时间为9.7岁。一份成人样本报告称，13%的ET病例报告在14岁时发病，21.8%的ET病例在18岁时发病。讨论：美国明显缺乏描述儿科ET发病率和患病率的最新数据。许多出现ET症状的儿童可能要到晚年才能被诊断出来，提高对儿科ET的认识可以早期识别和监测这些患者。

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引用次数: 0

Treatment Patterns in Essential Tremor: A Retrospective Analysis 特发性震颤的治疗模式:回顾性分析

IF 2.2 Q2 CLINICAL NEUROLOGY

Tremor and Other Hyperkinetic Movements

Pub Date : 2022-03-23 DOI: 10.5334/tohm.682

Chintan Shah, G. Jackson, A. Sarwar, P. Mandava, Fariha Jamal

Background: Although first line therapies for essential tremor have been identified from small clinical trials, responses are variable. We conducted a survey of tremor management in a large sample of ET cases. Methods: The Movement Disorders Clinical Case Registry within a US Veterans Health Administration medical center was used to identify 1468 patients with ET. Results: Of 1468 charts reviewed, 1074 (73.19%) met criteria for ET with characterization of temporal course and treatment; 291/1074 subjects (27.1%) did not receive any treatment. Almost half (500/1074; 46.6%) of the patients received monotherapy, 196/1074 (18.2%) two, 66/1074 (6.1%) three, and 21/1074 (2.0%) four or more medications. Of all prescriptions, primidone was the most used (546/1172; 46.6%), followed by propranolol (419; 35.8%), topiramate (122; 10.4%) and gabapentin (35; 3.0%). Medication response was available for a total of 1030 prescriptions, of which 138 (13.4%) were discontinued due to side effects; 180 (17.5%) prescriptions were ineffective. Furthermore, 52/1074 patients (4.8%) were treated with botulinum toxin injections and 41/1074 (3.8%) underwent deep brain stimulation surgery. Discussion: Our data suggest that more widespread recognition of limitations underlying conventional approaches, as well as increased referrals for nonpharmacological therapies, may be necessary to achieve improved outcomes in ET populations.

背景:虽然从小型临床试验中已经确定了特发性震颤的一线治疗方法，但反应是可变的。我们对大量ET病例的震颤管理进行了调查。方法:使用美国退伍军人健康管理局医疗中心的运动障碍临床病例登记处来确定1468例ET患者。结果:在1468例回顾的图表中，1074例(73.19%)符合ET的标准，包括时间病程和治疗特征;291/1074名受试者(27.1%)未接受任何治疗。几乎一半(500/1074;46.6%)、196/1074(18.2%)2、66/1074(6.1%)3、21/1074(2.0%)4种及以上药物治疗。在所有处方中，使用最多的是普里米酮(546/1172;46.6%)，其次是心得安(419;35.8%)，托吡酯(122;10.4%)和加巴喷丁(35;3.0%)。共有1030张处方有药物反应，其中138张(13.4%)因副作用而停药;无效处方180张(17.5%)。52/1074例(4.8%)患者接受了肉毒毒素注射，41/1074例(3.8%)患者接受了深部脑刺激手术。讨论:我们的数据表明，更广泛地认识到传统方法的局限性，以及增加非药物治疗的转诊，可能有必要改善ET人群的预后。

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引用次数: 4

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