Tremor and Other Hyperkinetic Movements最新文献

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Clinical and Genetic Spectrum of VPS13A Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort. 全印度VPS13A疾病的临床和遗传谱:一个回顾性的多中心遗传确认队列。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-10-12 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1276
Archita Makharia, Atif I Shaikh, Jacky Ganguly, Ayush Agarwal, Vijayashankar Paramanandam, Mitesh Chandarana, Soaham Desai, Vaibhav Mathur, Kartika Gulati, Sanjay Pandey, Hrishikesh Kumar, Achal Kumar Srivastava, Divyani Garg
{"title":"Clinical and Genetic Spectrum of <i>VPS13A</i> Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort.","authors":"Archita Makharia, Atif I Shaikh, Jacky Ganguly, Ayush Agarwal, Vijayashankar Paramanandam, Mitesh Chandarana, Soaham Desai, Vaibhav Mathur, Kartika Gulati, Sanjay Pandey, Hrishikesh Kumar, Achal Kumar Srivastava, Divyani Garg","doi":"10.5334/tohm.1276","DOIUrl":"10.5334/tohm.1276","url":null,"abstract":"<p><strong>Objectives: </strong>To characterize the geographic and molecular spectrum of genetically confirmed <i>VPS13A</i> disease across India and examine patterns of delay to tertiary evaluation.</p><p><strong>Methods: </strong>We conducted a multicentre retrospective study across eight tertiary movement disorder centres in India. Clinical, investigational, genetic, treatment, and follow-up data were collected.</p><p><strong>Results: </strong>Eighteen unrelated patients from eight tertiary centres were included. Chorea was the most common initial manifestation (10/18), and 8/18 patients were evaluated more than five years after symptom onset. Longer intervals to tertiary evaluation were descriptively more frequent among patients with non-choreic presentations, particularly seizures. Twenty-three distinct <i>VPS13A</i> variants were identified, predominantly loss-of-function variants, including apparently novel variants and two variants recurring in unrelated patients.</p><p><strong>Conclusion: </strong><i>VPS13A</i> disease in this multicentre Indian cohort demonstrated substantial molecular heterogeneity, including apparently novel and recurrent variants. Longer intervals to tertiary evaluation were descriptively more frequent among patients with non-choreic presentations, particularly those with seizures, highlighting that clinicians need to maintain a high degree of suspicion for VPS13A even in such presentations.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"56"},"PeriodicalIF":1.9,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13674526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216659","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}
引用次数: 0
Clinical and Electrophysiological Heterogeneity of Orthostatic Tremor: An Individual Patient Data Analysis. 直立性震颤的临床和电生理异质性:个体患者数据分析。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-10-08 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1278
Leroy D'Souza, B R Niharika, Julián Benito-León, B R Samarth, Rishika Das, Muskan Kotwal, Kruthika Reddy, Pranav Anil Katti, C S Pranav Bhat
{"title":"Clinical and Electrophysiological Heterogeneity of Orthostatic Tremor: An Individual Patient Data Analysis.","authors":"Leroy D'Souza, B R Niharika, Julián Benito-León, B R Samarth, Rishika Das, Muskan Kotwal, Kruthika Reddy, Pranav Anil Katti, C S Pranav Bhat","doi":"10.5334/tohm.1278","DOIUrl":"10.5334/tohm.1278","url":null,"abstract":"<p><strong>Background: </strong>Orthostatic tremor (OT) is traditionally classified using tremor frequency and the presence of associated neurological signs. However, increasing reports of overlapping frequencies, fluctuating electrophysiological profiles, and diverse clinical associations indicate that current classification systems may not fully capture the clinical heterogeneity of OT.</p><p><strong>Methods: </strong>A systematic review of PubMed/MEDLINE from inception to February 2026 identified case reports, case series, and original studies reporting electromyography-confirmed OT with individual patient data. Demographic, clinical, electrophysiological, and data on associated conditions were extracted. Cases were classified according to the 2018 Movement Disorder Society criteria and separately grouped as isolated or non-isolated OT. Associations between tremor frequency and clinical phenotype were assessed using receiver operating characteristic analysis and multivariable logistic regression.</p><p><strong>Results: </strong>One hundred studies comprising 244 patients were included. Mean tremor frequency was 13.32 ± 4.15 Hz (range 3-20 Hz). Seventeen patients (6.97%) could not be classified using current criteria because of frequencies exceeding 18 Hz or fluctuations across the 13-Hz threshold. Non-isolated OT had significantly lower tremor frequencies than isolated OT (11.03 Hz vs 14.80 Hz, p < 0.001). Tremor frequency independently predicted non-isolated phenotype (OR 0.78) (AUC 0.72). Parkinsonian disorders were the most common associated condition, but substantial frequency overlap was observed across neurological and systemic disorders associated with OT.</p><p><strong>Discussion: </strong>Most cases were classifiable using the current OT criteria. However, a small subset demonstrated boundary-spanning or out-of-range frequencies. These findings suggest that tremor frequency remains an important electrophysiological feature of OT but should be interpreted alongside the clinical context.</p><p><strong>Highlights: </strong>Electromyography-confirmed orthostatic tremor exhibited marked clinical and electrophysiological heterogeneity across neurological and non-neurological conditions. Most cases were classifiable using the current OT criteria. However, a small subset demonstrated boundary-spanning or out-of-range frequencies. These findings suggest that tremor frequency remains an important electrophysiological feature of OT but should be interpreted alongside the clinical context.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"55"},"PeriodicalIF":1.9,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149171018","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}
引用次数: 0
Bobble-Head Doll Syndrome Caused by Aqueductal Web-Associated Obstructive Hydrocephalus in an Adult: A Case Report with Video. 成人导水管网相关梗阻性脑积水引起的摇头娃娃综合征:附视频1例报告。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-10-08 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1246
Rina Shibayama, Toshiyuki Enomoto, Dai Kawano, Hiromasa Kobayashi, Takashi Morishita, Koichiro Takemoto, Hiroshi Abe
{"title":"Bobble-Head Doll Syndrome Caused by Aqueductal Web-Associated Obstructive Hydrocephalus in an Adult: A Case Report with Video.","authors":"Rina Shibayama, Toshiyuki Enomoto, Dai Kawano, Hiromasa Kobayashi, Takashi Morishita, Koichiro Takemoto, Hiroshi Abe","doi":"10.5334/tohm.1246","DOIUrl":"10.5334/tohm.1246","url":null,"abstract":"<p><strong>Background: </strong>Bobble-head doll syndrome (BHDS) is a rare movement disorder usually observed in children and associated with third ventricular lesions or hydrocephalus.</p><p><strong>Case report: </strong>A 24-year-old man presented with progressive memory impairment, gait instability, urinary incontinence, and irregular no-no head tremor with a sensory trick. MRI revealed severe obstructive hydrocephalus due to an aqueductal web. Ventriculoperitoneal shunting was performed, and the tremor resolved within one week. Neurological symptoms improved, and he remained independent 18 months after surgery.</p><p><strong>Discussion: </strong>Adult BHDS is extremely rare. Early recognition and appropriate CSF diversion can provide favorable outcomes.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"54"},"PeriodicalIF":1.9,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149169284","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}
引用次数: 0
Orthostatic Hyperkinetic Disorders in Subacute Sclerosing Panencephalitis - A Novel Observation. 亚急性硬化性全脑炎的直立性多动障碍——一项新的观察。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-09-18 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1277
Sakoon Saggu, Deepa Dash, Animesh Das, Arunmozhimaran Elavarasi
{"title":"Orthostatic Hyperkinetic Disorders in Subacute Sclerosing Panencephalitis - A Novel Observation.","authors":"Sakoon Saggu, Deepa Dash, Animesh Das, Arunmozhimaran Elavarasi","doi":"10.5334/tohm.1277","DOIUrl":"10.5334/tohm.1277","url":null,"abstract":"<p><strong>Background: </strong>Subacute sclerosing panencephalitis (SSPE) is a progressive, often fatal inflammatory encephalitis caused by persistent measles virus infection of the central nervous system. The neurological manifestations of SSPE are well characterised, encompassing cognitive decline, periodic myoclonic jerks, and often relentless progression.</p><p><strong>Case report: </strong>We report a case of a 14-year-old male with SSPE who developed bilateral lower limb shaking and knee buckling, with associated loss of quadriceps tone on standing. These features resulted in recurrent falls and necessitated supported ambulation.</p><p><strong>Discussion: </strong>To our knowledge, this combination of orthostatic limb shaking and loss of tone in the context of SSPE has not been previously described in the literature. This case expands the recognised phenotypic spectrum of SSPE.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"52"},"PeriodicalIF":1.9,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008911","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}
引用次数: 0
Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications. 进行性轴突神经病变和小脑共济失调与纯合子致病性POLG突变相关,来自巴西米纳斯吉拉斯州北部/杰基廷honha山谷的非洲裔患者:病例报告和流行病学意义。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-09-04 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1238
Caroline Fernandes Melo, Laura Toledo de Vasconcelos, Lays Aparecida Bono Evangelista
{"title":"Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic <i>POLG</i> Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.","authors":"Caroline Fernandes Melo, Laura Toledo de Vasconcelos, Lays Aparecida Bono Evangelista","doi":"10.5334/tohm.1238","DOIUrl":"10.5334/tohm.1238","url":null,"abstract":"<p><p>We report a 41-year-old man of African descent from the Northern Minas Gerais/Jequitinhonha Valley region of Brazil - historically characterized by geographic isolation, predominantly Afro-Indigenous ancestry, and structural consanguinity - born to first-degree cousin parents, who presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities. His sister had died with a similar untreated neurological syndrome. Three serial electroneuromyographic studies demonstrated stable chronic axonal polyneuropathy with complete bilateral absence of sural, fibular, and plantar sensory potentials, and active distal denervation. Brain MRI, unchanged over a two-year interval, showed T2/FLAIR hyperintense foci in both cerebellar hemispheres and the right middle cerebellar peduncle with cerebellar atrophy, without diffusion restriction or contrast enhancement. Next-generation sequencing (NGS; Mendelics®; 101-gene hereditary neuropathy panel) identified a homozygous pathogenic variant in the <i>POLG</i> gene (c.2243G>C; p.Trp748Ser - ClinVar ID 13507), confirming the diagnosis of mitochondrial DNA depletion syndrome type 4B (OMIM #613662). The patient's paternal great-grandfather was from the state of Ceará, a region with documented European colonization, providing a plausible route for the introduction of this classically European founder allele into his Afro-Brazilian lineage, with homozygosity emerging through consanguinity. To our knowledge, this is the first report of p.Trp748Ser in a patient of African descent, directly challenging its presumed ethnic exclusivity. Clinical and electrophysiological stability over 2.5 years is consistent with the favorable course reported in p.W748S homozygotes. This case underscores the importance of <i>POLG</i>-related ataxia as a diagnostic consideration in patients of non-European ancestry presenting with axonal neuropathy and cerebellar signs, and highlights the consequences of underrepresentation of populations of African descent in genetic disease research.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"52"},"PeriodicalIF":1.9,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897775","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}
引用次数: 0
Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant. 扩大TBL1XR1疾病谱系:广泛性肌张力障碍与一种新的遗传变异相关
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-09-03 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1242
Maximilian Johannes Löw, Felix Bernsdorff, Christiane Weinrich, Saskia Biskup, Jerome Jüngling, Christoph van Riesen, Fabian Maass
{"title":"Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.","authors":"Maximilian Johannes Löw, Felix Bernsdorff, Christiane Weinrich, Saskia Biskup, Jerome Jüngling, Christoph van Riesen, Fabian Maass","doi":"10.5334/tohm.1242","DOIUrl":"10.5334/tohm.1242","url":null,"abstract":"<p><strong>Background: </strong>A growing number of identified genes increasingly reveal genetic overlaps between neurodevelopmental disorders and combined dystonia syndromes.</p><p><strong>Case report: </strong>We report a 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral palsy for 40 years. Whole-exome sequencing identified a novel heterozygous pathogenic frameshift variant in TBL1XR1.</p><p><strong>Discussion: </strong>TBL1XR1 variants are classically associated with Pierpont syndrome and autism spectrum disorder. Although movement disorders have been reported, this case suggests generalized dystonia as a possible additional manifestation. It highlights the value of retrospective genetic phenotyping and next-generation sequencing in adults with long-standing neurodevelopmental diagnoses.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"51"},"PeriodicalIF":1.9,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897767","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}
引用次数: 0
Sleep Disturbances and Their Correlates in Essential Tremor and Essential Tremor Plus: A Questionnaire-Based Case-Control Study. 特发性震颤和特发性震颤伴发的睡眠障碍及其相关因素:一项基于问卷的病例对照研究
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-09-03 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1234
Ravi Prakash Singh, S Mythirayee, Doniparthi Venkata Seshagiri, Rohan Mohale, Pramod Kumar Pal, Bindu M Kutty, Jitender Saini, Nitish L Kamble, Vikram Holla, Ravi Yadav
{"title":"Sleep Disturbances and Their Correlates in Essential Tremor and Essential Tremor Plus: A Questionnaire-Based Case-Control Study.","authors":"Ravi Prakash Singh, S Mythirayee, Doniparthi Venkata Seshagiri, Rohan Mohale, Pramod Kumar Pal, Bindu M Kutty, Jitender Saini, Nitish L Kamble, Vikram Holla, Ravi Yadav","doi":"10.5334/tohm.1234","DOIUrl":"10.5334/tohm.1234","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) has been increasingly recognized to involve non-motor symptoms, including sleep disturbances. Essential Tremor Plus (ET-plus), is characterized by additional neurological \"soft signs\" and may display greater non-motor symptom burden. Despite emerging evidence from polysomnographic studies, large-scale subjective evaluations of sleep across the ET spectrum remain limited.</p><p><strong>Objectives: </strong>To assess the prevalence and severity of sleep disturbances in ET and ET-plus using validated sleep questionnaires, and to compare with healthy controls.</p><p><strong>Methods: </strong>This study was conducted at NIMHANS, Bengaluru, and included 100 patients (60 ET and 40 ET-plus) and 100 healthy controls. Tremor severity was assessed using TETRAS and FTMRS, and sleep symptoms with ESS, PSQI, Mayo Sleep Questionnaire, RLS-Q, BQ, GAD-7 and PHQ-9. Non-parametric tests and effect size estimations were used for group comparisons.</p><p><strong>Results: </strong>ET-plus patients were older and exhibited greater tremor severity than ET. Global PSQI scores differed significantly among ET and ET Plus vs controls (p < 0.001), with ET-plus reporting the poorest sleep quality. ET and ET-plus demonstrated significantly higher ESS (p < 0.001) and greater prevalence of probable RBD, RLS, and sleep apnea risk compared with controls. Tremor disability scores correlated with PSQI scores in ET-plus, suggesting an interaction between motor and non-motor burden.</p><p><strong>Conclusions: </strong>Both ET and ET plus have significant sleep dysfunction with ET-plus patients showing markedly poorer sleep quality, higher daytime somnolence, and greater parasomnia prevalence than ET and controls. These findings highlight the clinical relevance of routine sleep assessment in ET and may impact quality of life and management.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"50"},"PeriodicalIF":1.9,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897787","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}
引用次数: 0
Prevalence of Probable REM Sleep Behavior Disorder in Essential Tremor. 特发性震颤患者可能的REM睡眠行为障碍的患病率。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-08-25 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1214
Peyman Petramfar, Steven Bellows
{"title":"Prevalence of Probable REM Sleep Behavior Disorder in Essential Tremor.","authors":"Peyman Petramfar, Steven Bellows","doi":"10.5334/tohm.1214","DOIUrl":"10.5334/tohm.1214","url":null,"abstract":"<p><strong>Background: </strong>Essential Tremor (ET) has traditionally been regarded as a pure motor disorder. However, emerging evidence suggests associations with non-motor symptoms, including cognitive impairment, psychiatric disturbances, and sleep abnormalities. REM Sleep Behavior Disorder (RBD) is a known prodromal feature of alpha-synucleinopathies such as Parkinson's disease (PD). The relationship between ET and RBD remains unclear, with previous studies reporting variable prevalence rates.</p><p><strong>Objective: </strong>This study aimed to determine the prevalence of probable RBD (pRBD) among patients with ET using the REM Sleep Behavior Disorder Single-Question Screen (RBD1Q).</p><p><strong>Methods: </strong>In this single-center, cross-sectional study, we identified ET patients from the Parkinson's Disease Center and Movement Disorders Clinic at Baylor College of Medicine. Eligible patients were contacted and screened for pRBD using the RBD1Q. A small cohort of healthy controls, including spouses, was also screened. Demographic and clinical characteristics were compared between ET patients with and without pRBD.</p><p><strong>Results: </strong>Among 245 ET patients, 21.2% screened positive for pRBD. There were no significant differences in age, age at tremor onset, or tremor duration between patients with and without pRBD. There was a significantly higher percentage of males among ET patients with pRBD (63.5% vs. 48.7%, p = 0.045).</p><p><strong>Discussion: </strong>In this study, pRBD screen positivity was relatively more common in ET patients than historical controls. These findings suggest that sleep-related symptoms may be relevant in ET and support further study with polysomnographic confirmation of RBD and longitudinal follow-up of these symptoms in ET patients.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"49"},"PeriodicalIF":1.9,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13523803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851370","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}
引用次数: 0
Spectrum of Dystonia in Progressive Supranuclear Palsy: A Prospective Observational Study and Review of Literature. 进行性核上性麻痹肌张力障碍的频谱:前瞻性观察研究和文献综述。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-08-19 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1243
Kartika Gulati, Sanjay Pandey
{"title":"Spectrum of Dystonia in Progressive Supranuclear Palsy: A Prospective Observational Study and Review of Literature.","authors":"Kartika Gulati, Sanjay Pandey","doi":"10.5334/tohm.1243","DOIUrl":"10.5334/tohm.1243","url":null,"abstract":"<p><strong>Background: </strong>Dystonia is an under-recognized yet clinically significant feature of Progressive supranuclear palsy (PSP), contributing to disability and impaired motor function.</p><p><strong>Method: </strong>In this prospective study, we examined the clinical and neuroimaging details of eighty-eight consecutive PSP patients who visited our movement disorder clinic [2024-2025]. Patients fulfilling the 2017 Movement Disorder Society-PSP criteria for possible or probable PSP were enrolled after ethics approval and informed consent. We aimed to evaluate the prevalence, phenomenology, subtype associations, clinical and neuroimaging correlates of dystonia. Additionally, a literature search was performed and 29 articles were included for detailed review.</p><p><strong>Result: </strong>The literature review identified predominantly retrospective studies, reporting dystonia in approximately 30-60% of the patients, with variable patterns of cranio-cervical and limb involvement. In our prospective cohort, dystonia was present in 64.8% (n = 57) cases. PSP-RS was the most frequent subtype (39.8%), followed by PSP-P (26.1%) and PSP-CBS (23.8%). Dystonia was more common in PSP-RS and PSP-CBS, with predominant limb dystonia in PSP-CBS, and cranio-cervical dystonia in PSP-RS. A trend toward earlier dystonia was observed in PSP-CBS. Patients with dystonia demonstrated lower Midbrain to pons ratios and higher Magnetic resonance parkinsonism index, suggesting greater brainstem involvement. Botulinum toxin therapy resulted in clinical improvement in selected dystonia patients.</p><p><strong>Conclusion: </strong>Dystonia is a frequent and clinically meaningful feature in PSP. Our prospective study expands upon the existing literature by demonstrating distinct subtype-specific patterns and neuroimaging correlates, supporting the concept of a \"dystonia spectrum\" in PSP and highlighting its relevance for clinical recognition and management.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"48"},"PeriodicalIF":1.9,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13543160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897834","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}
引用次数: 0
Lansoprazole-Induced Myoclonus. Lansoprazole-Induced肌阵挛。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-08-14 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1236
R N Komal Kumar, Vijay K Sharma
{"title":"Lansoprazole-Induced Myoclonus.","authors":"R N Komal Kumar, Vijay K Sharma","doi":"10.5334/tohm.1236","DOIUrl":"10.5334/tohm.1236","url":null,"abstract":"<p><p>Although Lansoprazole, a proton pump inhibitor, is quite safe, there have been occasional reports of associated neurological dysfunction. We present a middle-aged man who developed bilateral asterixis within few hours of the first dose of lansoprazole. Interestingly, the jerks disappeared rapidly after discontinuation of lansoprazole.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"47"},"PeriodicalIF":1.9,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13475527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148762235","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}
引用次数: 0
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