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

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

Parakinesia Brachialis Oscitans – a Rare Post-Stroke Phenomenon 臂肌振荡运动障碍——一种罕见的中风后现象

IF 2.2

Tremor and Other Hyperkinetic Movements Pub Date : 2022-03-11 DOI: 10.5334/tohm.680

Abhishek Chowdhury, A. Datta, S. Biswas, A. Biswas

引用次数: 2

Vim-Thalamic Deep Brain Stimulation for Cervical Dystonia and Upper-Limb Tremor: Quantification by Markerless-3D Kinematics and Accelerometry Vim-Thalamic深部脑刺激治疗颈椎强直和上肢震颤：无标记三维运动学和加速度测量的量化

IF 2.2

Tremor and Other Hyperkinetic Movements Pub Date : 2022-03-10 DOI: 10.5334/tohm.673

Xenos L. Mason, Katy A. Cross, Ahmet Araç, Y. Bordelon, A. Wu

{"title":"Vim-Thalamic Deep Brain Stimulation for Cervical Dystonia and Upper-Limb Tremor: Quantification by Markerless-3D Kinematics and Accelerometry","authors":"Xenos L. Mason, Katy A. Cross, Ahmet Araç, Y. Bordelon, A. Wu","doi":"10.5334/tohm.673","DOIUrl":"https://doi.org/10.5334/tohm.673","url":null,"abstract":"Background: Deep Brain Stimulation (DBS) for dystonia is usually targeted to the globus pallidus internus (GPi), though stimulation of the ventral-intermediate nucleus of the thalamus (Vim) can be an effective treatment for phasic components of dystonia including tremor. We report on a patient who developed a syndrome of bilateral upper limb postural and action tremor and progressive cervical dystonia with both phasic and tonic components which were responsive to Vim DBS. We characterize and quantify this effect using markerless-3D-kinematics combined with accelerometry. Methods: Stereo videography was used to record our subject in 3D. The DeepBehavior toolbox was applied to obtain timeseries of joint position for kinematic analysis [1]. Accelerometry was performed simultaneously for comparison with prior literature. Results: Bilateral Vim DBS improved both dystonic tremor magnitude and tonic posturing. DBS of the hemisphere contralateral to the direction of dystonic head rotation (left Vim) had greater efficacy. Assessment of tremor magnitude by 3D-kinematics was concordant with accelerometry and was able to quantify tonic dystonic posturing. Discussion: In this case, Vim DBS treated both cervical dystonic tremor and dystonic posturing. Markerless-3D-kinematics should be further studied as a method of quantifying and characterizing tremor and dystonia.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2022-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48085803","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: 1

Position-Dependent Dysfunction of Deep Brain Stimulation in Tourette Syndrome: Diagnostic Clues 抽动秽语综合征深部脑刺激的位置依赖性功能障碍：诊断线索

IF 2.2

Tremor and Other Hyperkinetic Movements Pub Date : 2019-10-23 DOI: 10.7916/tohm.v0.713

M. Wolf, Olaf Majewski, K. Müller-Vahl, C. Blahak, D. Schulte, J. Krauss

引用次数: 1

Enfeeblement in Elders with Essential Tremor: Characterizing the Phenomenon and Its Role in Caregiver Burden 原发性震颤老年人的儿童问题：现象特征及其在照顾者负担中的作用

IF 2.2

Tremor and Other Hyperkinetic Movements Pub Date : 2019-10-18 DOI: 10.7916/tohm.v0.687

Tess E. K. Cersonsky, Daniel Trujillo Diaz, S. Kellner, R. Hickman, Maria Anna Zdrodowska, J. Monin, E. Louis

{"title":"Enfeeblement in Elders with Essential Tremor: Characterizing the Phenomenon and Its Role in Caregiver Burden","authors":"Tess E. K. Cersonsky, Daniel Trujillo Diaz, S. Kellner, R. Hickman, Maria Anna Zdrodowska, J. Monin, E. Louis","doi":"10.7916/tohm.v0.687","DOIUrl":"https://doi.org/10.7916/tohm.v0.687","url":null,"abstract":"Background Individuals with essential tremor (ET), a common movement disorder, experience functional impairment, which contributes to burden experienced by their loved ones and caregivers. Some burdened caregivers report their loved ones as seeming debilitated or prematurely old, a concept that we have called enfeeblement. Using the Essential Tremor Enfeeblement Survey (ETES), we seek to characterize enfeeblement in elders with ET and assess its contribution to caregiver burden. Methods We administered the ETES (range = 8–40, higher scores indicating more enfeeblement) and other scales to 98 caregivers of individuals with ET. Individuals with ET were also queried regarding tremors, cognitive abilities, and overall health. We then identified demographic and clinical correlates of ETES and modeled the contribution of ETES to caregiver burden (assessed using the Zarit 12-item Burden Interview [ZBI-12]). Results Mean ETES score was 14.2 ± 6.2 (median = 12.0, range = 8.0–32.0); 26.5% of respondents endorsed at least one of the eight ETES items. Older age, greater tremor severity and disability, more functional and gait disability, more cognitive difficulty, and more depressive symptoms were associated with higher ETES scores. ETES was the strongest contributor to caregiver burden (ZBI-12) and substantially increased the variance explained in models of caregiver burden. Discussion Enfeeblement seems to describe a previously unexplained component of caregiver burden in elders with ET. The presence of enfeeblement may contribute to greater burden and should be factored into assessments of patient and caregiver needs.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49036455","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