Tremor and Other Hyperkinetic Movements最新文献

{"title":"Current Management of Neurological Wilson's Disease.","authors":"V H Ganaraja, Vikram V Holla, Pramod Kumar Pal","doi":"10.5334/tohm.938","DOIUrl":"https://doi.org/10.5334/tohm.938","url":null,"abstract":"<p><p>Wilson's disease (WD) is a disorder of copper metabolism due to variants in the <i>ATP7B</i> gene. This autosomal recessively inherited disorder is characterized by the accumulation of copper in various body parts, mainly the liver, brain, and kidneys. Initially, WD was described to involve the hepatic and neurological systems. Subsequently, diverse presentations have been reported with skeletal and hematological manifestations and various constellations of symptoms. Neurological manifestations of WD are varied, ranging from asymptomatic neurological state to refractory dystonia. Earlier, the diagnosis was based only on measuring serum ceruloplasmin levels, urinary copper levels, and imaging. Advanced genetic testing has provided an additional mode of diagnosis in the patient, screening of the family members and, a way to better understand the genotype-phenotype associations of the disease if there are any. In the last few decades, the treatment of WD has evolved from symptomatic treatment and chelation therapy to many new advanced measures for both copper chelation and symptomatic relief. With a better understanding of the genetic aspects of WD in recent years, there has been more focus on gene therapy, novel therapies targeting ATP7B genes, and therapies targeting mutant proteins to prevent copper accumulation. This article highlights the advances in diagnostic methods and treatment modalities in WD.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"17"},"PeriodicalIF":2.5,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063596/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051632","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":"Feasibility, Effectiveness, and Acceptability of a Telemedicine Neurological Consultation for Drug-Induced Movement Disorders; A Randomized Pilot Study.","authors":"Emily Houston, Amanda G Kennedy, Terry Rabinowitz, Gail L Rose, James Boyd","doi":"10.5334/tohm.1007","DOIUrl":"10.5334/tohm.1007","url":null,"abstract":"<p><strong>Background: </strong>Individuals exposed to neuroleptics are at risk of developing a drug-induced movement disorder (DIMD). Early identification and appropriate management are necessary to minimize the risk of DIMDs worsening and becoming irreversible. Movement disorder neurologists can assist other clinicians in assessing the cause of the DIMD and make care recommendations. The aim of this study was to evaluate if telemedicine can be used to provide a neurological consultation service to patients with DIMDs.</p><p><strong>Methods: </strong>Patients referred by mental health clinicians (MHCs) in a rural state were randomized to have a neurological consult in-person or through telemedicine. Participants completed two visits with a neurologist and completed surveys about their experience and well-being. MHCs provided feedback on the service through a survey and qualitative interviews.</p><p><strong>Results: </strong>In the IP group, 79% or participants completed Visit 1 and 71% attended Visit 2, as compared to 86% of participants completing Visit 1 in the TM group and 57% were present for Visit 2. Satisfaction scores were slightly higher for the IP group at both visits. MHCs were satisfied with the consult, reporting that it was helpful and improved care for the patients.</p><p><strong>Discussion: </strong>Providing a consult service through telemedicine is feasible, effective, and acceptable, and can be improved further following feedback provided by the MHCs. Overall, participants and MHCs were pleased to have the opportunity to meet and collaborate with a neurologist.</p><p><strong>Highlights: </strong>The results from our study address gaps in knowledge related to providing specialist care to people with drug-induced movement disorders in a rural setting. Telemedicine consultation is feasible, with low rates of technological issues, and participants with drug-induced movement disorders were satisfied with telemedicine as a mode of care delivery.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"19"},"PeriodicalIF":2.5,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015015","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":"High Intensity Focused Ultrasound - Longitudinal Data on Efficacy and Safety.","authors":"Betsy Thomas, Gabriele Bellini, Wen-Yu Lee, Yidan Shi, Alon Mogilner, Michael H Pourfar","doi":"10.5334/tohm.987","DOIUrl":"https://doi.org/10.5334/tohm.987","url":null,"abstract":"<p><strong>Background: </strong>High intensity focused ultrasound (HiFU) is a relatively new incisionless intervention used for treatment of essential tremor and Parkinson's disease tremor. Understanding the indications, benefits, risks and limitations of HiFU, as well as how it compares to deep brain stimulation (DBS), is important in guiding appropriate recommendations for prospective patients.</p><p><strong>Methods: </strong>Current literature on efficacy and safety of HiFU in essential tremor and Parkinson's disease was reviewed. We additionally reviewed data on the patients who presented to our center for HiFU consultation, including outcomes of patients with low skull density ratios, and distances traveled for the procedure.</p><p><strong>Results/discussion: </strong>HiFU is an effective and generally well-tolerated treatment for tremor. Adverse events, especially gait instability, are typically temporary but should be discussed with patients. The risk of tremor recurrence in certain patients with Parkinson's disease is also of note. Identifying appropriate candidates for either intervention remains crucial and involves considering each patient's circumstances and preferences, potential adverse effects, and practical aspects like access to follow-up and expectations. Data on bilateral HiFU lesioning, use of HiFU in patients with low skull density ratios, and emerging targets like the pallidothalamic tract are discussed as well.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"18"},"PeriodicalIF":2.5,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020379","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 Post-Hypoxic Myoclonus: A Case Correlating Local Field Potentials to Clinical Outcome.","authors":"Harleen Kaur, Tim J Goble, Albert Fenoy, Ritesh A Ramdhani","doi":"10.5334/tohm.999","DOIUrl":"https://doi.org/10.5334/tohm.999","url":null,"abstract":"<p><strong>Background: </strong>Post-hypoxic myoclonus (PHM) is characterized by generalized myoclonus after hypoxic brain injury. PHM is often functionally impairing and refractory to medical therapies. There are a handful of reports utilizing deep brain stimulation (DBS) to treat medically refractory PHM.</p><p><strong>Case report: </strong>A 56-year-old woman developed PHM following an anoxic brain injury. Utilizing a stimulating and sensing DBS system, we show clinical improvement in myoclonus at 6 months and correlate it to local field potential (LFP) activity.</p><p><strong>Discussion: </strong>We present the first case to utilize DBS sensing to correlate LFP activity to myoclonus improvement. Our case contributes to the growing evidence of DBS for PHM.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"16"},"PeriodicalIF":2.5,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12023146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064759","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 of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit.","authors":"Ute Scheller, Steffen Paschen, Fabian Maass, Christoph van Riesen","doi":"10.5334/tohm.1003","DOIUrl":"https://doi.org/10.5334/tohm.1003","url":null,"abstract":"<p><strong>Background: </strong>Deep brain stimulation is an approved therapy for essential tremor and Parkinson's disease. In addition, VIM-DBS is used off-label for the treatment of tremor syndromes with a different etiology.</p><p><strong>Case report: </strong>We present the case of a woman with a drug-refractory action tremor due to rare compound heterozygous POLR3A mutations. Her treatment with VIM DBS did not lead to a sustained improvement of symptoms.</p><p><strong>Discussion: </strong>Tremor due to POLR3A-related cerebellar syndromes may not be responsive to VIM DBS. The networks contributing to cerebellar tremor should be better investigated in terms of where neuromodulatory therapy might be more effective.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"15"},"PeriodicalIF":2.5,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12005138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050301","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":"Lip and Jaw Tremor in Parkinson's Disease.","authors":"José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez, Robert Fekete","doi":"10.5334/tohm.1001","DOIUrl":"https://doi.org/10.5334/tohm.1001","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is characterized clinically by the presence of bradykinesia, rigidity, and tremor. Although upper limb rest tremor is the most common form of tremor in PD, lip/jaw tremor is identified in a proportion of these patients.</p><p><strong>Methods: </strong>We aimed to assess the frequency, features, and correlates of lip/jaw tremor in PD.</p><p><strong>Results: </strong>We studied 229 consecutive patients with PD. There were 39 (17%) patients with lip/jaw tremor, 22 of them (56.4%) were males. Slight lip/jaw tremor was identified in n = 10 (25.6%), mild in n = 15 (38.5%), moderate in n = 13 (33.3%) and severe in n = 1 (2.6%) case. Patients with lip/jaw tremor had a positive association with older age, greater limb rest tremor scores (<i>P</i> = 0.009), and higher total MDS-UPDRS-III scores (<i>P</i> < 0.001) in the multivariate regression analysis. There were 6 patients with isolated lip/jaw tremor (i.e. without limb rest tremor). These patients were all male (<i>P</i> = 0.038), tended to be older (75.7 vs. 67.7 years, <i>P</i> = 0.078) and had greater cognitive impairment (<i>P</i> = 0.034) than the rest of the cohort, but there was no association with other body tremors or total motor score.</p><p><strong>Conclusions: </strong>Lip/jaw tremor was identified in 17% of cases; it was associated with greater motor severity and limb rest tremor, suggesting shared pathophysiology with limb rest tremor. A subgroup with isolated lip/jaw tremor showed reduced cognitive performance, but no association with other body tremors.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"13"},"PeriodicalIF":2.5,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12005137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048105","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":"Double-Blind, Randomized, Placebo-Controlled, Crossover Study of Oral Cannabidiol and Tetrahydrocannabinol for Essential Tremor.","authors":"Katherine Longardner, Qian Shen, Francisco X Castellanos, Bin Tang, Rhea Gandhi, Brenton A Wright, Jeremiah D Momper, Fatta B Nahab","doi":"10.5334/tohm.1005","DOIUrl":"https://doi.org/10.5334/tohm.1005","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is characterized by often disabling action tremors. No pharmacological agent has been developed specifically for symptomatic treatment. Anecdotal reports describe tremor improvement with cannabis, but no evidence exists to support these claims. We conducted a phase Ib/II double-blind, placebo-controlled, crossover pilot trial in participants with ET to investigate tolerability, safety, and efficacy of Tilray TN-CT120 LM, an oral pharmaceutical-grade formulation containing tetrahydrocannabinol (THC) 5 mg and cannabidiol (CBD) 100 mg. Our objectives were to determine if short-term THC/CBD exposure improved tremor amplitude and was tolerated.</p><p><strong>Methods: </strong>Participants with ET were randomized (1:1) to receive either TN-CT120 LM or placebo. Dose titration, driven by tolerability, was attempted every 2-3 days to three capsules daily maximum. Participants remained on the highest tolerated dose for two weeks before returning to complete assessments. After completing the first arm, participants titrated off the agent, underwent a three-week washout, and then returned for the same procedures with the alternate compound. The primary endpoint was tremor amplitude change from baseline using digital spiral assessment. Secondary endpoints explored safety and tolerability.</p><p><strong>Results: </strong>Among thirteen participants screened, seven were eligible and enrolled. Five completed all visits; one withdrew following a serious adverse event, and another did not tolerate the lowest dose. Intent-to-treat analyses performed for six participants did not reveal significant effects on primary or secondary endpoints.</p><p><strong>Conclusions: </strong>This pilot trial did not detect any signals of efficacy of THC/CBD in ET. Although preliminary due to the small sample size, our data do not support anecdotal reports of cannabinoid effectiveness for ET.</p><p><strong>Highlights: </strong>This double-blind, randomized, placebo-controlled efficacy and tolerability pilot trial did not detect any signals of efficacy of oral cannabidiol and tetrahydrocannabinol in reducing essential tremor amplitude using either digital outcome measures or clinical rating scales. The oral cannabinoids were well-tolerated by most (five out of seven) participants.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"14"},"PeriodicalIF":2.5,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12005140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025292","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":"Lesioning Through a Directional Deep Brain Stimulation Lead in the Subthalamic Nucleus.","authors":"Alfonso Enrique Martinez Nunez, Dorian M Kusyk, Joshua K Wong, Michael S Okun, Justin D Hilliard","doi":"10.5334/tohm.993","DOIUrl":"https://doi.org/10.5334/tohm.993","url":null,"abstract":"<p><strong>Clinical vignette: </strong>A 59-year-old woman with a previous subthalamic nucleus deep brain stimulation (DBS) implanted for Parkinson's disease developed a hardware related infection.</p><p><strong>Clinical dilemma: </strong>Wound dehiscence and infection developed and necessitated removal of the DBS system. The patient experienced excellent therapeutic benefit from her DBS and expressed concern about device removal.</p><p><strong>Clinical solution: </strong>The patient was offered the option of a lesioning procedure which could be performed during hardware explantation. An operative procedure was conducted where the intracranial DBS lead was connected to a radiofrequency system in a deliberate effort to create a targeted subthalamotomy through the existing DBS lead. A multilevel lesion was generated using the contacts on the directional DBS lead. Following the lesion the DBS lead and hardware were removed.</p><p><strong>Gap in knowledge: </strong>Creating a lesion through a DBS lead using radiofrequency ablation is a therapeutic option for patients not interested in later re-implantation or for those with a history of multiple DBS related infections. Lesioning through segmented leads introduces more complexity into the procedure.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"12"},"PeriodicalIF":2.5,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11987846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038694","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":"Myorhythmia: A Quantitative Study of Synchrony and Rhythmicity Between the Head and Upper Limbs.","authors":"Mahmoud Elkhooly, Ahmad Elkouzi, Rodger J Elble","doi":"10.5334/tohm.986","DOIUrl":"10.5334/tohm.986","url":null,"abstract":"<p><strong>Background: </strong>Myorhythmia is a <4 Hz oscillatory movement disorder that has been variably described as synchronous or asynchronous between body parts and as jerky or rhythmic in appearance, but there is no published report of quantitative motion analysis.</p><p><strong>Methods: </strong>A 51-year-old woman developed disabling myorhythmia in the head and upper limbs (right>left) approximately three months after a relapse of multiple sclerosis in her brainstem and cerebellum. Head and bilateral hand motion was recorded at rest and during posture with triaxial accelerometers and gyroscopic transducers. Recordings were analyzed with spectral power and coherence analyses. Frequency variability was quantified as half-power spectral bandwidth and interquartile range of cycle-to-cycle frequency change. Waveform deviation from sinusoidality was quantified as total harmonic distortion.</p><p><strong>Results: </strong>The 2.5-3.2 Hz head and hand oscillations exhibited narrow frequency bandwidths (≤0.21 Hz) and interquartile frequency changes (≤0.38 Hz). Amplitude fluctuated greatly, but head and hand oscillations were intermittently synchronous (coherence 0.8-1.0). Waveform was not perfectly sinusoidal and varied with the transducer.</p><p><strong>Conclusions: </strong>This is the first quantitative demonstration of very high rhythmicity and nearly perfect coherence of myorhythmia between different body parts, consistent with the classification of myorhythmia as a form of tremor. Limitations of the quantitative methods are discussed.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"9"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780292","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":"Associations Between Cognitive Profiles and Balance in Essential Tremor.","authors":"Nathan Hantke, Barbara H Brumbach, Lauren Siegel, Martina Mancini, Delaram Safarpour","doi":"10.5334/tohm.969","DOIUrl":"10.5334/tohm.969","url":null,"abstract":"<p><strong>Background: </strong>Essential Tremor (ET) is increasingly recognized as phenotypically heterogeneous disorder, which may encompass alterations in gait, balance and cognitive dysfunction. Disruption in cerebellar-thalamic-cortical circuits results in varying patterns of executive and memory dysfunction and balance disorders. The current study proposed two aims: 1) identify cognitive subtypes within individuals with essential tremor, and 2) examine for a correlation between these subtypes and gait and balance dysfunction. We hypothesize that gait and balance dysfunction are more common in individuals with ET who demonstrate greater cognitive difficulties.</p><p><strong>Methods: </strong>Seventy-one individuals underwent neuropsychological and physical therapy examinations as part of presurgical deep brain stimulation (DBS) evaluations that included measures of gait and balance (Mini-BESTest; Timed Up and Go, SARA). People with ET were categorized into Cognitively Normal (N = 29), Low Executive Function/Processing Speed (N = 17), and Low Memory Multi-domain groups (N = 25).</p><p><strong>Results: </strong>Regression analyses show that scores on the Mini-Balance Evaluation Systems Test and Scale for the Assessment and Rating of Ataxia were worse in the Low Memory and Low Executive Function groups compared to the cognitively normal group; age was also a significant predictor. Scores on the Timed Up and Go were worse for the Low Executive Function compared to the cognitive normal group; age and education were also significant predictors. Medication use was not associated with any of the clinical gait and balance tests. However, medication use and age were significant predictors of reported falls in daily life.</p><p><strong>Conclusions: </strong>A subset of individuals with ET experience cognitive dysfunction that coalesce into processing speed deficits or immediate memory deficits. These cognitive subtypes were associated with greater difficulty in balance and gait as compared to cognitively normal ET patient and this difference could not be accounted for by medications.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"9"},"PeriodicalIF":2.5,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11927669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693432","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}