Tremor and Other Hyperkinetic Movements最新文献

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Copy Number Variant Duplications Associated with Essential Tremor. 与特发性震颤相关的拷贝数变异重复。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-02-10 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1132
Miranda Medeiros, Calwing Liao, Allison A Dilliott, Jay P Ross, Veikko Vuokila, Farah Aboasali, Charles-Etienne Castonguay, Dan Spiegelman, Franziska Hopfner, Carles Vilariño-Güell, Elena García-Martín, Hortensia Alonso-Navarro, José A G Agúndez, Félix Javier Jiménez-Jiménez, Pau Pastor, Alex Rajput, Ali Rajput, Günther Deuschl, Gregor Kuhlenbäumer, Simon L Girard, Sali M K Farhan, Patrick A Dion, Guy A Rouleau
{"title":"Copy Number Variant Duplications Associated with Essential Tremor.","authors":"Miranda Medeiros, Calwing Liao, Allison A Dilliott, Jay P Ross, Veikko Vuokila, Farah Aboasali, Charles-Etienne Castonguay, Dan Spiegelman, Franziska Hopfner, Carles Vilariño-Güell, Elena García-Martín, Hortensia Alonso-Navarro, José A G Agúndez, Félix Javier Jiménez-Jiménez, Pau Pastor, Alex Rajput, Ali Rajput, Günther Deuschl, Gregor Kuhlenbäumer, Simon L Girard, Sali M K Farhan, Patrick A Dion, Guy A Rouleau","doi":"10.5334/tohm.1132","DOIUrl":"10.5334/tohm.1132","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is a complex neurological disorder with a strong genetic basis, yet there remains a disparity between its estimated heritability and currently known genetic risk. This missing heritability has led to a lack of appropriate treatments and has exacerbated the misdiagnosis of patients.</p><p><strong>Methods: </strong>To address the missing heritability of ET, we called copy number variants (CNVs) in a large cohort of ET patients (n = 1,853) and unaffected controls (n = 10,336). CNVs were called from single nucleotide polymorphism (SNP) microarray data using PennCNV and QuantiSNP and only rare CNVs (frequency < 1%) intersecting protein coding regions of the genome were analyzed. To investigate whether CNV occurrence was associated with ET, global burden, pathogenicity burden, gene set enrichment, and gene burden tests were conducted.</p><p><strong>Results: </strong>Global duplication burden by CNV number, CNV length, and number of genes affected by CNVs were all significantly elevated in ET patients compared to controls. Across gene-sets, duplications affecting Mendeliome genes, genes highly expressed in the brain, and genes expressed in the cerebellum were significantly enriched in patients compared to controls. Gene-based burden testing indicated that duplications involving <i>ZNF813</i> were significantly less frequent in ET patients than in controls. No associations with deletion events were observed.</p><p><strong>Discussion: </strong>Our results point to rare copy number duplications affecting protein coding regions of the genome as likely contributors to ET genetic risk. However, specific susceptibility genes could not be reliably identified, highlighting the need for larger studies of diverse variant types to clarify the genetic architecture of ET.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"10"},"PeriodicalIF":1.9,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146202955","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, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India. 8例伴有iii型GM1神经节脂质病联合张力障碍表现的患者的临床、放射学和遗传学特征:来自印度的视频病例系列。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-02-09 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1152
Subhajit Roy, Cheshta Arora, Vikram V Holla, Shweta Prasad, Prashant Phulpagar, Nitish Kamble, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal
{"title":"Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.","authors":"Subhajit Roy, Cheshta Arora, Vikram V Holla, Shweta Prasad, Prashant Phulpagar, Nitish Kamble, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal","doi":"10.5334/tohm.1152","DOIUrl":"10.5334/tohm.1152","url":null,"abstract":"<p><strong>Background: </strong>Type-III (adult/chronic) GM1 gangliosidosis is an uncommon, late-onset lysosomal disorder that frequently presents as a complex movement disorder.</p><p><strong>Methods: </strong>In this retrospective case series, clinical details, neuroimaging, electrophysiology, and genetics were extracted from standardized records and videos.</p><p><strong>Results: </strong>Eight patients were identified with median age at symptom onset of 6 years (range 3-18), and age at presentation of 23 years (12-27). All exhibited generalized dystonia with early, conspicuous oro-mandibular-cranio-cervical involvement; dysarthria was universal, parkinsonism occurred in two, and corticospinal signs in six. Ocular motor abnormalities were frequent; kyphoscoliosis was common. Where performed, nerve conduction studies, electroencephalography, evoked potentials, and abdominal ultrasound were unremarkable. MRI consistently demonstrated bilateral posterior putaminal T2/FLAIR change and the pathognomonic pallidal SWI \"wishbone\" pattern. All patients harboured biallelic <i>GLB1</i> variants: seven were compound heterozygous and one was homozygous. The recurrent variant c.1325G>A;p.Arg442Gln was present in seven patients. One novel variant (c.1022G>T;p.Gly341Val) was identified. Symptomatic therapies yielded variable, generally modest benefits over available follow-up.</p><p><strong>Discussion: </strong>A prominent oromandibular-cranio-cervical dystonia, posterior putaminal atrophy, and hyperintensity, with a SWI \"wishbone\" sign, strongly point to Type-III GM1 gangliosidosis. Recognizing this clinico-radiologic-genetic constellation can streamline targeted testing and counselling.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"9"},"PeriodicalIF":1.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146202960","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
Rescue Thalamotomy for Habituation to Deep Brain Stimulation in Essential Tremor: Case Report. 特发性震颤患者脑深部刺激适应的救助性丘脑切除术1例。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-02-09 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1050
Roman Kiselev, Vladislav Babchenko
{"title":"Rescue Thalamotomy for Habituation to Deep Brain Stimulation in Essential Tremor: Case Report.","authors":"Roman Kiselev, Vladislav Babchenko","doi":"10.5334/tohm.1050","DOIUrl":"10.5334/tohm.1050","url":null,"abstract":"<p><strong>Background: </strong>Habituation to deep brain stimulation (DBS) remains a therapeutic challenge in essential tremor (ET), with 4-42% of patients experiencing progressive loss of benefit.</p><p><strong>Case report: </strong>A 68-year-old man with ET presented with debilitating bilateral tremor. The patient underwent bilateral DBS to posterior subthalamic area (PSA). Despite initial tremor relief, symptoms gradually recurred three months later. After 12 months of unsuccessful programming, the patient underwent left-sided radiofrequency Vim thalamotomy. Due to severe tremor rebound phenomenon, tremor control was achieved in 1.5 months.</p><p><strong>Discussion: </strong>To our knowledge, this study represents the first report of successful thalamotomy performed for PSA-DBS habituation, accompanied by delayed postoperative tremor improvement. The clinical trajectory and putative mechanisms underlying both habituation and lesion-induced tremor suppression are discussed based on imaging analysis.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"8"},"PeriodicalIF":1.9,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146202135","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
Intention Tremor Severity Trajectory: Results from a Prospective Longitudinal Study of Essential Tremor. 意向性震颤严重程度轨迹:原发性震颤的前瞻性纵向研究结果。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-02-04 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1141
Elan D Louis, Diane S Berry, Nora C Hernandez, Ethan Wainman, Ericka D Carter, Vibhash D Sharma
{"title":"Intention Tremor Severity Trajectory: Results from a Prospective Longitudinal Study of Essential Tremor.","authors":"Elan D Louis, Diane S Berry, Nora C Hernandez, Ethan Wainman, Ericka D Carter, Vibhash D Sharma","doi":"10.5334/tohm.1141","DOIUrl":"10.5334/tohm.1141","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with essential tremor (ET) may exhibit intention tremor (IT), a sign of cerebellar dysfunction. The prevalence of this sign has been established in cross-sectional studies. To date, however, there have been no cohort studies, re-assessing ET cases prospectively, to determine whether the severity of IT increases over time. The fundamental question is whether IT is progressive in ET.</p><p><strong>Methods: </strong>90 cases enrolled in a prospective, longitudinal study of elders with ET. IT was assessed in each arm during the finger-nose-finger maneuver (10 repetitions per arm) and scored by a movement disorders neurologist on a 3-item scale - 0 (absent), 0.5 (probable), or 1 (definite), with the IT score (sum of IT in both arms) ranging from 0 - 2. Data from four evaluations every 18 months (T1 - T4) over a 4.5-year period were analyzed.</p><p><strong>Results: </strong>A one-way repeated measures analysis of variance revealed a time effect for IT, indicating significant variance across time in this variable. Paired sample t-tests indicated that the mean IT score at T4 was greater than those at T1, T2 and T3. There was heterogeneity in the sample, with the T4 score being greater than the T1 score in 46 (51.1%) of 90, but not all individuals.</p><p><strong>Conclusion: </strong>The cerebellar sign, IT, progressively worsened over time in ET. To our knowledge, this is the first demonstration that <i>any</i> canonical cerebellar sign gets progressively worse during prospective follow-up of ET. This clinical observation serves to further the links between ET and progressive cerebellar decline.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"7"},"PeriodicalIF":1.9,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12879989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143496","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
Does the Severity of Arm Tremor in Essential Tremor Correlate with Impaired Balance? 特发性震颤患者手臂震颤的严重程度是否与平衡受损相关?
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-02-03 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1146
Elan D Louis, Diane Berry
{"title":"Does the Severity of Arm Tremor in Essential Tremor Correlate with Impaired Balance?","authors":"Elan D Louis, Diane Berry","doi":"10.5334/tohm.1146","DOIUrl":"10.5334/tohm.1146","url":null,"abstract":"<p><strong>Background: </strong>Motor features aside from tremor are increasingly recognized in essential tremor (ET) patients. The relationship between these features and tremor has received sparse attention. We examined whether the severity of action tremor in the arms was correlated with the severity of tandem gait difficulty and balance confidence.</p><p><strong>Methods: </strong>212 ET cases enrolled in a prospective clinical study, from which baseline data on the following variables were analyzed: severity of action tremor (total tremor score [TTS] from the Washington Heights-Inwood Genetic Study of Essential Tremor rating scale, range = 0-36 [severe tremor]), tandem gait mis-steps (range = 0-10), and Activities of Balance Confidence (ABC-6) Scale (range = 0 [least confident] - 100).</p><p><strong>Results: </strong>Higher TTS was associated with a greater number of tandem gait mis-steps (Spearman's rho = 0.216, p = 0.002) and higher tertile of number of tandem gait mis-steps (Spearman's rho = 0.237, p < 0.001). Higher TTS was associated with reduced balance confidence (i.e., lower ABC-6 score) (Spearman's rho = -0.196, p = 0.004) and lower tertile of balance confidence (Spearman's rho = -0.175, p = 0.01).</p><p><strong>Discussion: </strong>We report an association between the severity of upper limb action tremor in ET and both a self-reported measure of balance confidence and a performance-based measure of balance. These data support the model that upper limb action tremor and tandem gait difficulty are associated in some way, with one possible interpretation being that they are both related to a common underlying element, cerebellar dysfunction.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"6"},"PeriodicalIF":1.9,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12879992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143490","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
Divergent Recovery Paths in Musicians' Dystonia. 音乐家肌张力障碍的不同恢复路径。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-01-20 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1101
Johanna Doll-Lee, Edoardo Passarotto, Eckart Altenmüller, André Lee
{"title":"Divergent Recovery Paths in Musicians' Dystonia.","authors":"Johanna Doll-Lee, Edoardo Passarotto, Eckart Altenmüller, André Lee","doi":"10.5334/tohm.1101","DOIUrl":"10.5334/tohm.1101","url":null,"abstract":"<p><strong>Background: </strong>Musician's dystonia, characterized by a loss of voluntary motor control during performance, predominantly manifests as two forms: Musician's Hand Dystonia (MHD) and embouchure dystonia (ED). ED involves more muscle groups compared to MHD, complicating diagnosis and treatment. Moreover, treatment options for MHD are either not viable for ED, such as botulinumtoxin injections, or less effective in ED, such as anticholinergic drugs.</p><p><strong>Methods: </strong>This study aimed to compare long-term subjective playing abilities at the onset of dystonia and after treatment between ED and MHD patients. We also evaluated the variation in subjective playing ability over time between the groups.</p><p><strong>Results: </strong>Findings revealed that playing ability at onset and the current playing ability are significantly lower in ED than in MHD. Notably, a significant improvement in playing ability over time was observed solely in MHD. Additionally, fewer ED patients sought therapeutic interventions, underscoring a scarcity of treatment options.</p><p><strong>Discussion: </strong>The results highlight a poorer prognosis for ED compared to MHD, likely due to the increased muscle involvement in ED and limited compensatory mechanisms available to these patients, emphasizing an urgent need for alternative therapeutic strategies for those affected by ED.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"5"},"PeriodicalIF":1.9,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12829447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054042","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
High Dose AbobotulinumtoxinA for Blepharospasm: A Case Report on the Safety and Efficacy of 500 Units of AbobotulinumtoxinA. 高剂量肉毒杆菌毒素治疗眼睑痉挛:500单位肉毒杆菌毒素的安全性和有效性的病例报告。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-01-19 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1134
Kate Santoso, Ava Baghaei, Khashayar Dashtipour
{"title":"High Dose AbobotulinumtoxinA for Blepharospasm: A Case Report on the Safety and Efficacy of 500 Units of AbobotulinumtoxinA.","authors":"Kate Santoso, Ava Baghaei, Khashayar Dashtipour","doi":"10.5334/tohm.1134","DOIUrl":"10.5334/tohm.1134","url":null,"abstract":"<p><strong>Background: </strong>Blepharospasm is a focal dystonia characterized by involuntary eyelid closure that can impair vision and quality of life. Botulinum neurotoxin type A injections are the standard treatment. However, there is substantial variability in dose requirements among patients. Symptom severity ranges from mild, intermittent blinking to forceful, sustained spasms leading to functional blindness.</p><p><strong>Case report: </strong>We present two cases of blepharospasm successfully managed with unusually high doses of AbobotulinumtoxinA administered over 8 and 13 treatment cycles, respectively.</p><p><strong>Discussion: </strong>Both patients achieved sustained symptomatic relief with only mild, self-limiting side effects, underscoring the importance of individualized dosing strategies in clinical practice.</p><p><strong>Highlights: </strong>Two patients with refractory blepharospasm were successfully managed with high-dose AbobotulinumtoxinA (500 U every 12 weeks)Both patients achieved sustained symptomatic improvement over multiple treatment cyclesAdverse effects were mild and transientHigh-dose AbobotulinumtoxinA may represent a safe and effective option for patients inadequately controlled with standard doses.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"4"},"PeriodicalIF":1.9,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12829445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146054029","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
Underlying Tremor Improvement with Consistent Use of Transcutaneous Afferent Patterned Stimulation in Patients with Essential Tremor. 原发性震颤患者持续使用经皮传入模式刺激改善潜在震颤。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-01-09 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1091
Stuart H Isaacson, Elizabeth Peckham, Winona Tse, Melita T Petrossian, Michael J Soileau, Mark Lew, Cameron Dietiker, Nijee Luthra, Pinky Agarwal, Rohit Dhall, John Morgan, Ejaz A Shamim, Holly A Shill, Fernando L Pagan, Pravin Khemani, Jessica Tate, Lan Luo, William Ondo, Mark Hallett, Chiahao Lu, Kathryn H Rosenbluth, Scott L Delp, Rajesh Pahwa
{"title":"Underlying Tremor Improvement with Consistent Use of Transcutaneous Afferent Patterned Stimulation in Patients with Essential Tremor.","authors":"Stuart H Isaacson, Elizabeth Peckham, Winona Tse, Melita T Petrossian, Michael J Soileau, Mark Lew, Cameron Dietiker, Nijee Luthra, Pinky Agarwal, Rohit Dhall, John Morgan, Ejaz A Shamim, Holly A Shill, Fernando L Pagan, Pravin Khemani, Jessica Tate, Lan Luo, William Ondo, Mark Hallett, Chiahao Lu, Kathryn H Rosenbluth, Scott L Delp, Rajesh Pahwa","doi":"10.5334/tohm.1091","DOIUrl":"10.5334/tohm.1091","url":null,"abstract":"<p><strong>Background: </strong>Transcutaneous afferent patterned stimulation (TAPS) is a non-invasive, wrist-worn neurostimulation therapy that has demonstrated acute and short-term lasting tremor reduction in patients with essential tremor (ET). However, the longer-term improvement in underlying tremor severity from consistent use of TAPS has not been fully explored.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of the multicenter PROSPECT trial, which evaluated twice-daily TAPS use over three months in patients with ET. Underlying tremor improvement was assessed by comparing pre-stimulation tremor severity at baseline with pre-stimulation tremor severity at 1- and 3-month follow-up visits. Tremor severity was measured using the Bain & Findley Activities of Daily Living (BF-ADL) scale and the Tremor Research Group's Essential Tremor Rating Assessment Scale (TETRAS). Responders were defined as patients demonstrating at least a 1-point improvement on any qualifying task.</p><p><strong>Results: </strong>Among 192 patients with available data, pre-stimulation BF-ADL scores improved significantly by 2.0 points at 1 month and 2.7 points at 3 months compared with baseline (p < 0.001). Pre-stimulation TETRAS scores also showed significant improvements at both time points (p < 0.001). Measurements at 1 and 3 months were made an average of 16.2 hours after the prior stimulation session. Over 80% of patients met responder criteria for underlying tremor improvement on BF-ADL and TETRAS at both follow-up visits. Improvements were observed even among patients using TAPS approximately once daily.</p><p><strong>Conclusions: </strong>Consistent use of TAPS was associated with significant improvement in underlying tremor severity in patients with essential tremor. These findings suggest that regular TAPS use may confer sustained therapeutic benefit.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"1"},"PeriodicalIF":1.9,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12785663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145953302","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
Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders. 第12届神经棘细胞增多症、科恩综合征和其他vps13相关疾病国际会议论文集。
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-01-09 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1124
Fabrizio Vacca, Binnaz Yalcin, Lars Kaestner, Adrian Danek, Kevin Peikert, Ruth H Walker, Muhammad Ansar
{"title":"Proceedings of the 12<sup>th</sup> International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.","authors":"Fabrizio Vacca, Binnaz Yalcin, Lars Kaestner, Adrian Danek, Kevin Peikert, Ruth H Walker, Muhammad Ansar","doi":"10.5334/tohm.1124","DOIUrl":"10.5334/tohm.1124","url":null,"abstract":"<p><p>The 12<sup>th</sup> International Meeting on Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related Disorders was held on September 12<sup>th</sup>-14<sup>th</sup>, 2025, at the Jules Gonin Eye Hospital in Lausanne, Switzerland. This long-standing series of international symposia has traditionally focused on neuroacanthocytosis syndromes and associated disorders. The program further broadened its scope to include Cohen syndrome, reflecting the growing recognition of shared molecular features and common unsolved questions across VPS13-related disorders. The aim of the meeting was to present the latest updates in the field, from both clinical and basic science perspectives, and to facilitate collaboration and exchange of ideas among researchers, clinicians, and the patient community. An important aspect of these meetings is the active involvement of patients, their relatives and caregivers, who were invited to attend scientific sessions, in addition to participating in parallel patient-oriented sessions. A total of 20 oral communications were presented in eight scientific sessions accompanied by two keynote lectures, short talks by selected poster presenters, and the 2025 \"Glenn Irvine Prize\" award lecture.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"3"},"PeriodicalIF":1.9,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12785667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145953308","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
Knowledge and Awareness of Tourette's Syndrome among Teachers in Eastern Region, Saudi Arabia. 沙特阿拉伯东部地区教师对抽动秽语综合征的知识和意识
IF 1.9
Tremor and Other Hyperkinetic Movements Pub Date : 2026-01-09 eCollection Date: 2026-01-01 DOI: 10.5334/tohm.1123
Zainab Saeed Mohammed Alwusaybie, Mashael Mubarak Saeed AlQuaimi, Ziyad Bandar Ali Alotaibi, Montather Akeel Nasser Alshik Ali, Walaa Mohammed Ali Alamer, Motaz Dhafer Ali Alqahtani
{"title":"Knowledge and Awareness of Tourette's Syndrome among Teachers in Eastern Region, Saudi Arabia.","authors":"Zainab Saeed Mohammed Alwusaybie, Mashael Mubarak Saeed AlQuaimi, Ziyad Bandar Ali Alotaibi, Montather Akeel Nasser Alshik Ali, Walaa Mohammed Ali Alamer, Motaz Dhafer Ali Alqahtani","doi":"10.5334/tohm.1123","DOIUrl":"10.5334/tohm.1123","url":null,"abstract":"<p><strong>Background: </strong>Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and vocal tics and associated with comorbidities such as obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD). Teachers' understanding of TS is critical for recognizing symptoms and providing effective support in the classroom.</p><p><strong>Methods: </strong>A cross-sectional study was conducted in 2024 among teachers in the Eastern Province of Saudi Arabia. A validated online questionnaire was distributed to a randomly selected sample of primary, intermediate, and high school teachers from both governmental and private schools. Knowledge was assessed using a 23-item tool and categorized as poor, moderate, or good.</p><p><strong>Results: </strong>Among the 305 participants, the majority were female (56.1%) and Saudi nationals (94.8%). A large proportion (41.3%) had substantial teaching experience (≥17 years). Overall, 57% of teachers demonstrated poor knowledge of TS, while only 5.9% showed good knowledge. Although understanding of motor and vocal tics was relatively high (65.9%), awareness of common comorbidities was lower (OCD: 29.2%; ADHD: 50.8%). Most teachers (84.9%) reported no personal experience with students with TS. A significant positive correlation was found between prior experience with TS and higher knowledge scores (p < 0.05). The primary source of information was the internet and social media (35.1%), with very few teachers citing formal training.</p><p><strong>Conclusion: </strong>A significant knowledge gap regarding TS exists among schoolteachers in Eastern Saudi Arabia. The reliance on informal sources over structured training highlights an urgent need for targeted educational programs and professional development workshops. Enhancing teacher preparedness is essential for creating inclusive learning environments that support the academic and social success of students with TS.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"16 ","pages":"2"},"PeriodicalIF":1.9,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12785669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145953229","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}
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