Tremor and Other Hyperkinetic Movements最新文献_第9页

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

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

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 2.5

Tremor and Other Hyperkinetic Movements Pub Date : 2022-05-18 eCollection Date: 2022-01-01 DOI: 10.5334/tohm.697

Molly Cincotta, Ruth H Walker

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

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

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

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

{"title":"Movement Disorders in Multiple Sclerosis: An Update","authors":"R. Ghosh, D. Roy, S. Dubey, Shambaditya Das, J. Benito‐León","doi":"10.5334/tohm.671","DOIUrl":"https://doi.org/10.5334/tohm.671","url":null,"abstract":"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.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46367383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

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

{"title":"Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis","authors":"V. H. Ganaraja, V. Holla, Albert Stezin, N. Kamble, R. Yadav, M. Purushottam, S. Jain, P. Pal","doi":"10.5334/tohm.686","DOIUrl":"https://doi.org/10.5334/tohm.686","url":null,"abstract":"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.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45355644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

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

Tremor and Other Hyperkinetic Movements Pub Date : 2022-04-19 DOI: 10.5334/tohm.681

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

{"title":"Epidemiology of Pediatric Essential Tremor in the United States: A Systematic Literature Review from 2010 to 2020","authors":"M. Gerbasi, A. Eldar-Lissai, K. Lyons","doi":"10.5334/tohm.681","DOIUrl":"https://doi.org/10.5334/tohm.681","url":null,"abstract":"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.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49127609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

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

{"title":"Treatment Patterns in Essential Tremor: A Retrospective Analysis","authors":"Chintan Shah, G. Jackson, A. Sarwar, P. Mandava, Fariha Jamal","doi":"10.5334/tohm.682","DOIUrl":"https://doi.org/10.5334/tohm.682","url":null,"abstract":"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.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"12 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42377177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

A Case of Lance-Adams Syndrome with Mixed Cortical and Reticular Reflex Myoclonus 兰斯-亚当斯综合征合并皮质和网状反射性肌阵挛1例

IF 2.2

Tremor and Other Hyperkinetic Movements Pub Date : 2022-03-18 DOI: 10.5334/tohm.684

Andy Ho Wing Chan, Jamie Nichols, W. Tse, Sophia L. Ryan

引用次数: 0

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members 一种新的与儿童期发作性肌张力障碍相关的病理学KMT2B变体在家庭成员中表现为可变表型

IF 2.2

Tremor and Other Hyperkinetic Movements Pub Date : 2022-03-17 DOI: 10.5334/tohm.679

Laura R. Owczarzak, K. Hogan, Richard T. Dineen, Chandler E. Gill, Mindy H Li

引用次数: 1