Tremor and Other Hyperkinetic Movements最新文献

{"title":"An Exploratory Analysis of Essential Tremor and Associated Phenotypes.","authors":"Dylan Gharibian, Miranda Medeiros, Patrick A Dion, Guy A Rouleau","doi":"10.5334/tohm.1168","DOIUrl":"https://doi.org/10.5334/tohm.1168","url":null,"abstract":"<p><p>Essential Tremor (ET) is a highly heterogeneous movement disorder with a strong genetic basis. However, the etiology of ET is unclear, largely due to its clinical heterogeneity and frequently observed comorbidities. We conducted a three-part study to investigate the genetic basis of ET in relation to co-occurring phenotypes, aiming to assess causal directionality and to clarify phenotypic heterogeneity. First, we used Mendelian Randomization (MR) to test for directional, causal relationships between ET and common co-occurring traits. We then identified pleiotropic single nucleotide polymorphisms (SNPs) shared between ET and these traits, mapped them to genes, and performed gene ontology enrichment analyses. Finally, we applied genomic structural equation modeling (g-SEM) to group traits by shared genetic variance and evaluate their influence on ET. MR analyses did not reveal causal relationships, likely due to high genetic pleiotropy. Gene enrichment analyses of shared SNPs suggested involvement of certain pathways, but these signals were driven by limited gene overlap. SEM identified a well-fitting latent model of shared genetic architecture, but it explained only ~2% (±9%) of ET variance. Our findings suggest that ET and its comorbidities may share complex genetic architecture not captured by common variants alone. The limited variance explained by MR and SEM highlights the need for rare variant and multi-omics studies to better understand the biological mechanisms underlying ET and its heterogeneity.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"27"},"PeriodicalIF":2.1,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13131336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147820868","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":"The Prevalence of Tic Disorders in Poland: Regional and Sex Differences.","authors":"Katarzyna Śmilowska, Natalia Szejko, Aleksander J Owczarek, Kinga Tomczak, Daniel J van Wamelen, Kirsten R Müller-Vahl","doi":"10.5334/tohm.1165","DOIUrl":"https://doi.org/10.5334/tohm.1165","url":null,"abstract":"<p><strong>Background: </strong>Primary tic disorders, including provisional tic disorder, chronic tic disorders and Tourette syndrome (TS), are common childhood-onset neurodevelopmental conditions. Epidemiological data from Central and Eastern Europe remain limited. This nationwide registry-based study provides the first population-level overview of tic disorders in Poland over a 14-year period.</p><p><strong>Methods: </strong>We analysed anonymised National Health Fund data from 2010-2024, identifying individuals diagnosed with tic disorders (ICD-10 F95), including provisional tic disorder (F95.0), chronic motor or phonic tic disorder (F95.1), and TS (F95.2). Comorbid ADHD (F90) and OCD (F42) were examined. Prevalence was stratified by age, sex, and region. Age at first diagnosis and healthcare utilisation were assessed. Healthcare utilisation was defined as the number of inpatient and outpatient encounters in which tic disorders were recorded as either a primary or comorbid diagnosis.</p><p><strong>Results: </strong>Recorded prevalence increased across all tic disorders. Prevalence was higher in males than females (p < 0.001), with male-to-female ratios ranging from 2:1 for provisional tics to 5-6:1 for TS in children. First diagnoses peaked between 6-12 years, with females diagnosed later than males (p < 0.001). Marked regional variation was observed, with higher prevalence in southern and southeastern regions (p < 0.001). ADHD and OCD were common, particularly in TS, and were associated with increased healthcare utilisation (p < 0.001). While total visits increased, visits per patient declined.</p><p><strong>Conclusions: </strong>Tic disorder prevalence has risen in Poland, with persistent regional disparities, highlighting the need for improved specialist access, earlier recognition, and integrated management of comorbidities.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"26"},"PeriodicalIF":2.1,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13089365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147723547","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":"Diagnostic Accuracy of the Archimedes Spiral Test for Essential Tremor: A Meta-Analysis.","authors":"Victor Fellipe Bispo Macêdo, Matheus Lang, Jorge Artur Peçanha de Miranda Coelho","doi":"10.5334/tohm.1151","DOIUrl":"https://doi.org/10.5334/tohm.1151","url":null,"abstract":"<p><strong>Background: </strong>The Archimedes spiral test is widely used in clinical neurology to evaluate tremor, yet its diagnostic performance for essential tremor (ET) remains unclear and methodologically inconsistent across studies.</p><p><strong>Objective: </strong>To determine the diagnostic accuracy of the Archimedes spiral test for distinguishing ET from healthy controls (HC) and to identify methodological and technological factors associated with improved performance.</p><p><strong>Methods: </strong>A systematic review and meta-analysis were conducted according to PRISMA 2020 guidelines (PROSPERO: CRD420251167793). Eight studies (1,046 participants) were included. Risk of bias was assessed with QUADAS-2. Pooled diagnostic accuracy was estimated using a random-effects model, and subgroup/meta-regression analyses examined the impact of digital acquisition, AI algorithms, EMG/accelerometry, and execution parameters.</p><p><strong>Results: </strong>The pooled diagnostic accuracy was 0.89 (95% CI: 0.77-0.95; I² = 75.4%). Technology-assisted methods (digital capture or AI-based analysis) demonstrated higher accuracy (0.91; 95% CI: 0.79-0.96) than manual approaches (0.78; 95% CI: 0.70-0.84), although differences did not reach statistical significance. Exploratory analyses suggested that medication withdrawal, absence of arm support, digital recording, and standardized execution protocols may contribute to improved diagnostic performance.</p><p><strong>Conclusions: </strong>The Archimedes spiral shows moderate-to-high diagnostic accuracy for ET, particularly when combined with digital acquisition and objective analytic methods. Given the small number of available studies and substantial methodological heterogeneity, these findings should be interpreted as exploratory. Standardized digital protocols may enhance reproducibility and support the development of scalable, clinic-ready tremor biomarkers.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"25"},"PeriodicalIF":2.1,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13068091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147676778","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":"Childhood-Onset Myoclonus-Dystonia Due to <i>KCTD17</i> Mutation: A Case Report and Review of Diagnostic Challenges.","authors":"Yun Lin, Yu Aoh, Ming-Kuei Lu","doi":"10.5334/tohm.1170","DOIUrl":"https://doi.org/10.5334/tohm.1170","url":null,"abstract":"<p><strong>Background: </strong>Myoclonus-dystonia (M-D) is a rare hyperkinetic movement disorder most commonly associated with <i>SGCE</i> mutations, while <i>KCTD17</i> represents a less frequent but distinct genetic cause.</p><p><strong>Case report: </strong>A 23-year-old man with childhood-onset Tourette-like symptoms developed progressive dystonia, upper-limb-predominant dystonia, upper-limb-predominant myoclonus, and laryngeal involvement. Genetic testing identified a pathogenic <i>KCTD17</i> mutation in the patient and his affected mother.</p><p><strong>Discussion: </strong>This case illustrates that Tourette-like manifestations may occur as an early presentation of <i>KCTD17</i>-related myoclonus-dystonia and underscores the importance of longitudinal reassessment and genetic evaluation.</p><p><strong>Highlights: </strong>This case describes a genetically confirmed <i>KCTD17</i>-related myoclonus-dystonia presenting with early Tourette-like features. It highlights the diagnostic complexity arising from overlapping phenomenology, the importance of longitudinal reassessment, and the role of genetic testing in atypical, progressive, or treatment-refractory tic-like presentations.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"24"},"PeriodicalIF":2.1,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13068090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147676775","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":"Comment on: Knowledge and Awareness of Tourette's Syndrome Among Teachers in Eastern Region, Saudi Arabia.","authors":"Sami Ullah Khan, Syed Huzaifa Khan","doi":"10.5334/tohm.1191","DOIUrl":"https://doi.org/10.5334/tohm.1191","url":null,"abstract":"<p><strong>Background: </strong>We read with interest the article by Alwusaybie et al. examining teachers' knowledge and awareness of Tourette syndrome in the Eastern Region of Saudi Arabia. The study addresses an important educational and public health issue by assessing teachers' understanding through a structured questionnaire.</p><p><strong>Main commentary: </strong>While the findings provide valuable insight into informational gaps, interpretation requires caution. Questionnaire-based assessments primarily evaluate cognitive knowledge and correspond to the \"knows\" level of George E. Miller's pyramid of clinical competence. Such measures may not necessarily reflect applied competence or classroom performance. Therefore, reported knowledge deficits should not be directly equated with inadequate practical preparedness.Additionally, the use of Bloom's cutoff criteria to categorize knowledge levels (<60% poor, 60-79% moderate, ≥80% good) may introduce methodological limitations. As highlighted by Douglas G. Altman and Royston, dichotomizing or categorizing continuous variables can result in information loss and potential misclassification, particularly near threshold boundaries. Preserving continuous score interpretation or supplementing categorical reporting with distributional analysis could offer a more nuanced understanding of variability among teachers.</p><p><strong>Conclusion: </strong>The original study contributes meaningfully to understanding teacher awareness of Tourette syndrome. However, clearer differentiation between knowledge and applied competence, along with cautious interpretation of categorized score thresholds, would strengthen the study's implications. Future research may benefit from incorporating performance-based assessments and maintaining continuous scoring approaches to better capture real-world educational preparedness.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"23"},"PeriodicalIF":2.1,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13045787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623755","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 Scrub Typhus: A Systematic Review.","authors":"Ravindra Kumar Garg, Shweta Pandey, Amita Jain, Ritu Karoli, Vinay Suresh, Sanjay Singhal","doi":"10.5334/tohm.1148","DOIUrl":"https://doi.org/10.5334/tohm.1148","url":null,"abstract":"<p><strong>Background: </strong>Scrub typhus is a major rickettsial infection in Asia, occasionally presenting with movement disorders due to central nervous system involvement. This systematic review aimed to summarize their frequency, spectrum, diagnostic profile, treatment, and outcomes.</p><p><strong>Methods: </strong>A comprehensive search of PubMed, Embase, Scopus, and Google Scholar was conducted up to August 2025. All case reports, case series, and cohort studies reporting movement disorders associated with scrub typhus were included. Data were extracted and analyzed descriptively. The protocol was prospectively registered with PROSPERO under the identifier PROSPERO 2025 CRD420251156525.</p><p><strong>Results: </strong>Across 55 published cases, scrub typhus-associated movement disorders occurred predominantly in young adults (median age 28 years), with a male predominance (61.8%). Opsoclonus and related ocular motor disorders were the most frequent manifestations (41.8%), followed by cerebellar syndromes (34.5%), parkinsonism (12.7%), myoclonus (7.3%), and rare presentations such as ballismus, dystonia, opisthotonus, and akinetic mutism (7.3%). Associated neurological signs included cerebellar involvement (32.7%), altered sensorium (25.5%), extrapyramidal features (21.8%), and seizures (10.9%). In cohort studies including 2437 patients, 63 (2.6%) developed movement disorders, with opsoclonus-myoclonus seen in 22 (34.9%), ataxia in 17, myoclonus in 11 (17.4%), and extrapyramidal features in 25 (39.6%). Rare hyperkinetic manifestations such as hemiballismus and choreoathetoid movements were occasionally reported. Most patients had favorable outcomes, with complete recovery in 38 (69.1%), near-complete recovery in 6 (10.9%), partial recovery in 5 (9.1%), and death in 1 (1.8%).</p><p><strong>Conclusions: </strong>Movement disorders in scrub typhus, though uncommon, display a wide clinical spectrum and are often reversible.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"22"},"PeriodicalIF":2.1,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13045785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623679","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":"Essential Tremor and Ethanol.","authors":"Elan D Louis","doi":"10.5334/tohm.1200","DOIUrl":"https://doi.org/10.5334/tohm.1200","url":null,"abstract":"","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"21"},"PeriodicalIF":2.1,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13045784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623713","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":"Continued Dialogue about the Clinical Heterogeneity and Degenerative Pathology That Characterizes the Essential Tremors.","authors":"Elan D Louis","doi":"10.5334/tohm.1199","DOIUrl":"https://doi.org/10.5334/tohm.1199","url":null,"abstract":"","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"20"},"PeriodicalIF":2.1,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13045786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623749","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":"Paroxysmal Hemidystonia as the Presenting Manifestation of Previously Undiagnosed Diabetes Mellitus.","authors":"Subhankar Chatterjee, Samya Sengupta, Ritwik Ghosh, Julián Benito-León, Souvik Dubey","doi":"10.5334/tohm.1185","DOIUrl":"10.5334/tohm.1185","url":null,"abstract":"<p><strong>Background: </strong>Hyperglycemia-related movement disorders classically present as hemichorea-hemiballismus, whereas dystonia is far less common and may occasionally precede the recognition of diabetes mellitus.</p><p><strong>Case report: </strong>A 72-year-old man presented with a 3-month history of recurrent, stereotyped dystonic spells involving the right side of the face, arm, and leg. These episodes occurred approximately twice per minute and lasted about 5 seconds each. Initial laboratory testing revealed a plasma glucose level of 494 mg/dL and an HbA1c of 16.1%, consistent with previously unrecognized diabetes mellitus. Electrolyte levels, electroencephalography, cerebrospinal fluid analysis, and evaluation for autoimmune encephalopathy were unremarkable. Brain MRI showed only a chronic lacunar infarct in the left basal ganglia, with no evidence of an acute striatal lesion. The abnormal movements resolved completely within 3 days after correction of hyperglycemia. Follow-up 18F-FDG PET/CT performed after clinical recovery demonstrated subtle relative hypometabolism in the left cerebellum, with preserved uptake in the basal ganglia and cerebral cortex.</p><p><strong>Discussion: </strong>This case broadens the phenomenologic spectrum of hyperglycemia-related movement disorders and highlights paroxysmal hemidystonia as a potential presenting manifestation of previously undiagnosed diabetes mellitus. Bedside glucose testing should therefore be routinely performed in the evaluation of new-onset paroxysmal hyperkinetic movements. In addition, isolated extra-striatal metabolic abnormalities detected after symptom resolution should be interpreted with caution.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"19"},"PeriodicalIF":2.1,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13025155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147575479","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":"Spectrum of Movement Disorders in Hematological Malignancies: A Comprehensive Systematic Review of Clinical Phenotypes, Mechanisms, and Outcomes.","authors":"Ravindra Kumar Garg, Amita Jain, Ritu Karoli, Shweta Pandey, Vimal Paliwal, Vinay Suresh, Sanjay Singhal","doi":"10.5334/tohm.1147","DOIUrl":"https://doi.org/10.5334/tohm.1147","url":null,"abstract":"<p><strong>Background: </strong>Movement disorders associated with hematologic malignancies remain incompletely defined. This review synthesized published articles to clarify clinical patterns, mechanisms, and outcomes across hematologic malignancies.</p><p><strong>Methods: </strong>A PRISMA-compliant systematic search of PubMed, Embase, Scopus, and Google Scholar was conducted to identify reports describing movement disorders associated with hematologic malignancies. Eligible reports were screened according to predefined criteria, and data were extracted on demographics, hematologic diagnosis, central nervous system (CNS) involvement, movement-disorder phenotype, investigative findings, treatments administered, and neurological outcomes.</p><p><strong>Results: </strong>A total of 252 cases were included: 152 lymphoid, 78 myeloid, and 22 plasma-cell neoplasms. Lymphoid malignancies most commonly presented with cerebellar ataxia (55.3 percent), followed by parkinsonism (18.4 percent) and chorea (11.8 percent), with CNS involvement frequent, including infiltration (33.6 percent) and immune-mediated injury (30.3 percent). Myeloid disorders showed a predominantly hyperkinetic profile, especially generalized chorea (41 percent) and hemichorea or hemiballismus (17.9 percent), while structural CNS disease was rare (2.6 percent) and most cases reflected systemic or treatment-related mechanisms. Plasma-cell neoplasms were characterized mainly by parkinsonism (45.5 percent) and cerebellar syndromes (27.3 percent). Neurological improvement occurred in most patients, particularly after treatment of underlying hematologic disorder. In a cohort of 232 CNS lymphoma patients, prodromal neuropsychiatric features occurred in 9 percent, parkinsonism in 25 percent of those, and 80 percent improved following lymphoma-directed therapy.</p><p><strong>Conclusions: </strong>Movement disorders in hematologic cancers show distinct, disease-specific profiles, with cerebellar, hyperkinetic, and parkinsonian patterns corresponding to lymphoid, myeloid, and plasma-cell neoplasms. CNS involvement mechanisms differ, providing essential diagnostic and therapeutic guidance.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"18"},"PeriodicalIF":2.1,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13004057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147499811","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}