Tremor and Other Hyperkinetic Movements最新文献

{"title":"Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.","authors":"Charlotte Mouraux, Claire Fouquet, Keith Durkin, Vinciane Dideberg, Saskia Bulk, David Aktan, Maria Artesi, Frédérique Depierreux","doi":"10.5334/tohm.1079","DOIUrl":"10.5334/tohm.1079","url":null,"abstract":"<p><strong>Introduction: </strong>Heterozygous pathogenic variants in <i>MYH3</i> are known to be responsible for distal arthrogryposis.</p><p><strong>Case report: </strong>We report a consanguineous family of four children with two likely pathogenic <i>MYH3</i> homozygous variants associated with complex movement disorders, especially prominent lingual dystonia, along with skeletal abnormalities. The two variants in <i>MYH3</i> (c.3445G>A and c.4760T>C) have already been described in patients with congenital arthrogryposis. No other significant variation was found using long-read whole genome sequencing.</p><p><strong>Discussion: </strong>We have extended the phenotype of <i>MYH3</i>-associated arthrogryposis to include movement disorders, which may have been underdiagnosed to date.</p><p><strong>Highlights: </strong>This article extends the phenotype of <i>MYH3</i>-associated arthrogryposis to include movement disorders, illustrating a family of four children presenting <i>MYH3</i> skeletal disorders and lingual dystonia. Two homozygous likely pathogenic variants have been identified in the four sibs and appear to be causative for both skeletal and neurological phenotypes.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"53"},"PeriodicalIF":1.9,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12577538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145431920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of Diagnosed Essential Tremor in the United States: An Administrative Claims-Based Study.","authors":"Junji Lin, Rajesh Pahwa, Elan D Louis, Ragy Saad, Kelly E Lyons, Michael Markowitz, Liza R Gibbs, Aisara Chansakul, John Kroner, Douglas S Fuller, Weiyi Ni, Arthur Sillah, Michelle Baladi, Luigi M Barbato, Sanket Shah","doi":"10.5334/tohm.1060","DOIUrl":"10.5334/tohm.1060","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is one of the most common movement disorders. Previous estimates of ET prevalence vary due to multiple factors. This study estimated the prevalence of diagnosed ET.</p><p><strong>Methods: </strong>The prevalence of diagnosed ET was estimated among adults with continuous enrollment in 2022 and ≥1 additional year of prior baseline enrollment in the Merative™ MarketScan^® Research Databases, a US administrative claims database. ET was defined as ≥2 ET claims within 12 months of one another during the 2016-2022 study period. The proportion of patients receiving treatment was defined as having a claim for possible medication for ET in 2022 among those with diagnosed ET who had an additional 6 months of follow-up following the first ET diagnosis claim. Age-standardized estimates of the number of US adults with diagnosed ET were calculated using 2024 US population census projections.</p><p><strong>Results: </strong>The prevalence of diagnosed ET was 0.28% before age standardization, ranging from 0.06% (18-40 years) to 1.61% (≥75 years); 74% of patients overall received possible treatment. After standardization, prevalence was 0.42%; in 2024, 1.1 million US adults were estimated to have diagnosed ET. Estimates of the prevalence of diagnosed ET in the US were susceptible to the choice of case definition, nearly doubling (ie, 2.1 million US adults) with a more sensitive definition.</p><p><strong>Discussion: </strong>ET affects a substantial proportion of the US adult population. Selecting appropriate case definitions and using methods such as standardization are critical for estimating valid and generalizable chronic condition prevalences with real-world data.</p><p><strong>Highlights: </strong>This study found that 1.1 million US adults were estimated to have been diagnosed with essential tremor, with the sensitivity analyses yielding additional estimates. Estimating reliable and generalizable prevalences of diagnosed chronic conditions requires selection of appropriate case definitions and standardization to the general population.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"51"},"PeriodicalIF":1.9,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12551629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145378790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corpus Callosum Structural Alterations in Essential Tremor with and Without Resting Tremor: A Multimodal MRI Study.","authors":"Valerio Riccardo Aquila, Maria Celeste Bonacci, Maria Eugenia Caligiuri, Rita Nisticò, Maria Salsone, Andrea Quattrone, Aldo Quattrone, Fabiana Novellino","doi":"10.5334/tohm.1083","DOIUrl":"10.5334/tohm.1083","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is a common movement disorder characterized by postural and kinetic tremor. Some patients also show resting tremor, being classified as the ET-plus distinct subtype. The corpus callosum (CC) involvement is proven in several neurological diseases, including ET, but differences between ET with and without resting tremor have not been studied. In this study, we investigated structural characteristics of the CC in a cohort of ET and ET with resting tremor (ETrt) patients, compared to healthy controls (HC).</p><p><strong>Methods: </strong>We enrolled 128 participants (63 ET, 38 ETrt, and 27 HC). We performed a multimodal MRI evaluation (thickness, mean diffusivity [MD], and fractional anisotropy [FA]) of the CC's genu, body, and splenium, using different statistical approaches. We first performed a traditional group-based comparison, controlling for relevant covariates. Then, we used an unsupervised classification model based on MRI data to explore potential subgroup distinctions.</p><p><strong>Results: </strong>Our evaluation showed significant changes in structural parameters of CC in both ET and ETrt patients compared to HC, mainly represented by thickness reductions across all regions and MD increase in the body. Notably, we found no differences between the ET and ETrt groups. Clustering analysis reinforced this observation, placing ET and ETrt in a single cluster with similar abnormalities in all MRI parameters and clearly separating them from HC.</p><p><strong>Discussion: </strong>Despite their clinical differences, ET with and without resting tremor patients showed analogous macro- and microstructural changes in the CC, suggesting shared pathophysiological processes within this brain region.</p><p><strong>Highlights: </strong>We explored structural integrity of the Corpus Callosum in ET patients with and without resting tremor. We found a thinning of the corpus callosum and microstructural abnormalities overlapping in ET and ETrt groups, suggesting that despite their different clinical presentations, they share some underlying mechanisms.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"52"},"PeriodicalIF":1.9,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12551633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145372893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Gol-Gappa\" Dystonia - A Novel Form of Focal Task-Specific Dystonia.","authors":"Ayush Thakkar, Narendrakumar Barad","doi":"10.5334/tohm.1080","DOIUrl":"10.5334/tohm.1080","url":null,"abstract":"<p><strong>Background: </strong>Task-specific dystonias (TSDs) are focal movement disorders triggered by highly repetitive, skilled motor tasks, often within profession-specific contexts. Although upper limb TSDs are well documented, culturally unique forms continue to emerge.</p><p><strong>Case report: </strong>We present a case of a 30-year-old right-handed male who developed focal dystonia exclusively while preparing Gol-gappa (paani puri), an Indian street food requiring repetitive, precise hand movements to fill puris with spiced stuffing. Neurological examination and neuroimaging were unremarkable. Electromyography guided botulinum toxin injections into affected forearm and hand flexors resulted in approximately 70% improvement in task performance within two weeks.</p><p><strong>Discussion: </strong>Gol-gappa dystonia represents a novel, culturally specific variant of occupational TSD. This case broadens the recognized spectrum of task-specific dystonias and supports the role of targeted botulinum therapy as an effective intervention.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"50"},"PeriodicalIF":1.9,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12533417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Scoping Review of Measures Used to Assess Stress-Related Motor Dysfunction in Functional Movement Disorder.","authors":"Chelsea Kinney, Mary Shotwell","doi":"10.5334/tohm.1042","DOIUrl":"10.5334/tohm.1042","url":null,"abstract":"<p><p>Functional Neurological Disorder (FND) is a complex condition characterized by a range of motor and non-motor symptoms, including tremors, dystonia, sensory disturbances and dissociative episodes. Functional Movement Disorder (FMD), a common motor subtype of FND, specifically involves abnormal involuntary movements without an identifiable structural or organic cause. There isn't a validated assessment tool that currently exists to measure the specific impact of stress on motor symptom variability in FMD. The absence of such tools presents a barrier to accurate diagnosis, treatment planning, and longitudinal monitoring. This review focuses specifically on the FMD subtype, as it represents the most relevant phenotype for assessing stress-related motor dysfunction in the context of movement disorders. Following PRISMA-ScR guidelines, a systematic search was conducted across four major databases-PubMed, PsycINFO, Embase, and Scopus-using keywords related to FND, stress, motor symptoms, and psychometric evaluation. A total of 15 studies met inclusion criteria. Findings reveal a gap in available instruments: while several measures assess general stress (e.g., PSS-10, DASS-21) or motor symptoms (e.g., S-FMDRS), none are designed to capture the dynamic and stress-sensitive nature of motor dysfunction in FND. The review underscores the need for a patient-reported outcome (PRO) measure that is condition-specific, psychometrically validated, and capable of assessing real-time symptom variability linked to stress. Such a tool may offer significant benefits for clinical care and research by improving the precision of symptom monitoring, enhancing patient-provider communication, and guiding targeted interventions.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"49"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12493031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Movement Disorders in Toxoplasmosis: A Systematic Review.","authors":"Ravindra Kumar Garg, Shweta Pandey, Manoj Agarwal, Sanjay Singhal","doi":"10.5334/tohm.1093","DOIUrl":"10.5334/tohm.1093","url":null,"abstract":"<p><strong>Background: </strong>Movement disorders are an uncommon but important manifestation of central nervous system toxoplasmosis. Their phenotypes, lesion patterns, and outcomes have not been systematically characterized.</p><p><strong>Methods: </strong>A PRISMA-based systematic review identified all published patient-level reports of central nervous system toxoplasmosis with movement disorders. Eligible case reports and case series confirmed infection via serology, neuroimaging, polymerase chain reaction, or histopathology. Extracted data included demographics, immune status, clinical and neuroimaging features, lesion location, movement disorder type, treatment, outcomes, and proposed mechanisms. Cases were classified as hyperkinetic, hypokinetic, or cerebellar/ataxia syndromes and summarized descriptively.</p><p><strong>Results: </strong>Sixty patients were included: hyperkinetic (n = 42), hypokinetic (n = 9), and ataxia/cerebellar (n = 9). HIV-related immunosuppression was the predominant risk factor. Reactivation of latent toxoplasmosis was most frequent (40.5%, 55.6%, 88.9%). Hemichorea/hemiballismus was the leading hyperkinetic phenotype (47.6%), parkinsonism the main hypokinetic form (77.8%), while all ataxia patients exhibited cerebellar signs. Neuroimaging showed basal ganglia involvement in hyperkinetic (47.4%) and hypokinetic (88.9%) cases, whereas ataxia cases consistently demonstrated cerebellar lesions, often with brainstem or hemispheric extension. Standard pyrimethamine-sulfadiazine therapy was used in 59.5%, 33.3%, and 44.4%, respectively. Symptomatic therapy was phenotype-specific: neuroleptics and benzodiazepines for hyperkinetic, levodopa for hypokinetic, and none specified for ataxia. Outcomes varied, with recovery or marked improvement in 57.1%, 33.3%, and 66.7%, and mortality in 33.3%, 33.3%, and 22.2%, respectively. Mechanisms implicated basal ganglia disruption, nigrostriatal degeneration, and cerebellar invasion.</p><p><strong>Conclusions: </strong>Central nervous system toxoplasmosis-associated movement disorders show distinct phenotype-lesion correlations, with hyperkinetic syndromes most common. Outcomes vary by type, and early recognition with targeted therapy may improve prognosis.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"48"},"PeriodicalIF":1.9,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12493030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep Brain Stimulation for Dystonia in the Netherlands: A Delphi Study to Develop National Consensus.","authors":"Liesanne M Centen, Linda Ackermans, Annemieke I Buizer, M Fiorella Contarino, Joke M Dijk, Annelien A Duits, Carel Hoffmann, Mark L Kuijf, Irene Kusnadi, D L Marinus Oterdoom, Laura A van de Pol, P Rick Schuurman, Marina A J Tijssen, Martje E van Egmond","doi":"10.5334/tohm.1070","DOIUrl":"10.5334/tohm.1070","url":null,"abstract":"<p><strong>Background: </strong>Predicting outcome for individuals with dystonia undergoing treatment with deep brain stimulation (DBS) remains challenging. This is further complicated by a lack of uniform screening, follow-up, and heterogeneous outcome measures. This study aims to achieve consensus on a national level among experts in the field to develop an agreed set of outcome measures and introduce more uniformity in the process of preoperative screening and follow-up.</p><p><strong>Methods: </strong>A modified Delphi process was conducted among experts in the field of DBS for dystonia. The process consisted of an inventory round, followed by two rounds of Delphi questionnaires, closing with a digital consensus meeting. Experts rated the importance of items within several categories: ((non-)motor symptoms, selection criteria, follow-up, DBS-related aspects, involved care providers). A threshold of 70% was maintained as consensus criterium.</p><p><strong>Results: </strong>After the first two rounds, consensus was reached on 40/59 items (adult DBS), and 47/61 items (pediatric DBS). The remaining items were rephrased into 28 statements (13 adult DBS, 13 pediatric DBS, and 2 concerning both) and voted on during a final consensus meeting. There, 23/28 statements (11 adult, 11 pediatric, 1 both) reached consensus. Overall, after three rounds, on most items consensus was reached.</p><p><strong>Discussion: </strong>In this Delphi study, a high level of consensus among national experts was achieved on outcome measures and the process of screening and follow-up in DBS for dystonia for adults and children. The results present national consensus and offer an excellent start for collaborative international studies on best practice for DBS in dystonia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"47"},"PeriodicalIF":1.9,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12466329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lance-Adams Syndrome: An Updated Review of a Rare Post-Hypoxic Complication.","authors":"Mohammad Malakooti, Afshin Heidari, Mahsa Motieian, Armita Farid, Sina Neshat, Matin Bidares, Fatemeh Jahanshahi, Milad Gorgani, Hossein Shayestehyekta, Hazhir Moradi, Aydin Valipoor","doi":"10.5334/tohm.1074","DOIUrl":"10.5334/tohm.1074","url":null,"abstract":"<p><strong>Objectives: </strong>This review aims to provide a comprehensive understanding of Lance-Adams Syndrome (LAS), focusing on its pathophysiology, diagnosis, management, and patient outcomes.</p><p><strong>Methods: </strong>Utilizing the PICO framework, articles describing known cases of LAS and interventions were included, with no specific comparisons. The search was conducted in Google Scholar, PubMed, and Scopus databases.</p><p><strong>Results: </strong>LAS is characterized by action myoclonus and related symptoms. Imbalances in neurotransmitters and involvement of brain areas like the cerebellum, thalamus, and basal ganglia play a role in its pathophysiology. Diagnosis primarily relies on symptom history post-anoxic events, and treatments vary in effectiveness. LAS generally carries a more favorable functional prognosis than early post-anoxic status myoclonus, but often remains chronic and disabling.</p><p><strong>Conclusion: </strong>LAS is a complex and rare neurological condition requiring early diagnosis and specific interventions. The compiled information provides a comprehensive overview, assisting clinicians in understanding and managing LAS. This review emphasizes the need for ongoing research and individualized patient care strategies, seeking to enhance overall patient quality of life.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"45"},"PeriodicalIF":1.9,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12466330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to \"Methodological Considerations in the Pilot Study of a Novel Transcutaneous Peripheral Nerve Stimulation System for Essential Tremor\".","authors":"Richard Dewey, Kelly E Lyons, Zhen Zhang","doi":"10.5334/tohm.1099","DOIUrl":"https://doi.org/10.5334/tohm.1099","url":null,"abstract":"","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"46"},"PeriodicalIF":2.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12466324/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methodological Considerations in the Pilot Study of a Novel Transcutaneous Peripheral Nerve Stimulation System for Essential Tremor.","authors":"Muhammad Uzair","doi":"10.5334/tohm.1096","DOIUrl":"10.5334/tohm.1096","url":null,"abstract":"","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"44"},"PeriodicalIF":2.1,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12466326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}