Leonel Villa-Villegas, Luz Gabriela Lira-Jaime, Katia Carmina Farías-Moreno, Biagio David González-Ruffino, Alberto Soto-Escageda, Rodrigo Mercado-Pimentel, Carlos Eduardo Piña-Avilés, Carlos Zúñiga-Ramírez
{"title":"Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.","authors":"Leonel Villa-Villegas, Luz Gabriela Lira-Jaime, Katia Carmina Farías-Moreno, Biagio David González-Ruffino, Alberto Soto-Escageda, Rodrigo Mercado-Pimentel, Carlos Eduardo Piña-Avilés, Carlos Zúñiga-Ramírez","doi":"10.5334/tohm.1017","DOIUrl":"10.5334/tohm.1017","url":null,"abstract":"<p><strong>Clinical vignette: </strong>Leigh syndrome (LS) and Leigh-like syndromes (LLS), now collectively referred to as Leigh Syndrome Spectrum (LSS), encompass a wide range of clinical manifestations, including epilepsy, neurodevelopmental delay, and movement disorders such as ataxia, chorea, and dystonia. Although rare, LSS can present atypical symptoms in certain cases. The primary etiological cause of LSS is genetic, resulting from mitochondrial alterations.</p><p><strong>Clinical dilemma: </strong>Hyperkinesias in LSS or other mitochondrial disorders can be disabling, leading to a significant reduction in the patient's quality of life.</p><p><strong>Clinical solution: </strong>Globus pallidum deep brain stimulation (GPi-DBS) surgery is an effective treatment for hyperkinesias, such as chorea, and dystonia, caused by mitochondrial defects.</p><p><strong>Gap in knowledge: </strong>Pathogenic DNM1-related mitochondrial disorders with Leigh syndrome phenotype may show long-term improvement of hyperkinetic movements after GPi-DBS.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"32"},"PeriodicalIF":2.1,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12292044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144733365","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 Phenotyping of Musicians' Upper Limb Dystonia.","authors":"Steven J Frucht","doi":"10.5334/tohm.1044","DOIUrl":"10.5334/tohm.1044","url":null,"abstract":"<p><strong>Background: </strong>Focal task-specific dystonia of the musicians' arm (FTSDma) is an unusual and challenging disorder, often causing significant disability with loss of performing careers. The etiology and optimal management of this disorder remains unclear.</p><p><strong>Methods: </strong>We reviewed records and videos of 173 patients with FTSDma, 50 patients with writer's cramp (WC), and 16 with other forms of arm dystonia (OD), evaluated by a single examiner in clinical practice over a 25-year period. Detailed analysis of clinical features and videotaped examinations in slow motion (what we call \"deep phenotyping\") allowed separation of patients into four categories: \"precision-grip\" dystonia (groups I and III); \"power-grip\" dystonia (group II); and \"proximal dystonia\" (group IV). We compared these results to deep phenotyping of patients with FTSDma, WC and OD patients reported in the literature.</p><p><strong>Results: </strong>FTSDma usually affects men, involves the right hand, and begins in the fourth decade. The precision hand of pianists and guitarists (digits 1, 2, 3) was preferentially affected in the right arm, and many of the remaining patients involved the power hand of either arm (digits 3, 4, 5). The dystonic phenotype of the bow arm of string players and drumming arm of stick drummers bore striking resemblance to WC and racquet dystonia, almost always involving the wrist, forearm or shoulder.</p><p><strong>Conclusions: </strong>Deep phenotyping of FTSDma reveals similarities in dystonic phenotype between instrument classes, likely related to shared technical demands, and unexpected similarities between other forms of task-specific upper extremity dystonia. A network model to explain these findings is proposed.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"31"},"PeriodicalIF":2.5,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12273687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675866","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":"<i>VPS16</i>-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.","authors":"Rohan R Mahale, Hansashree Padmanabha","doi":"10.5334/tohm.1030","DOIUrl":"10.5334/tohm.1030","url":null,"abstract":"<p><strong>Background: </strong>Monoallelic variants in <i>VPS16</i> are associated with early-onset dystonia (<i>VPS16</i>-associated dystonia) with a frequency of less than 4%.</p><p><strong>Objective: </strong>Description of the clinical, imaging, and genetic profile of <i>VPS16</i>-associated dystonia and comparison of the findings of the Indian cohort with that of the Chinese and European cohorts.</p><p><strong>Methods: </strong>Report of a single patient with <i>VPS16</i>-associated dystonia and review of reported cases of genetically confirmed DYT-<i>VPS16</i> since 2016 from Indian, Chinese and European cohorts.</p><p><strong>Results: </strong>There were a total of 3 cases from India, 10 cases from China, and 34 cases from Europe. The median age at onset was similar in all cohorts. The median duration of disease was 26 years in the European cohort but a shorter duration was noted in the Indian and Chinese cohorts (13-14 years). Dystonia was the common symptom observed in all cohorts with associated myoclonus, intellectual disability, and psychiatric symptoms commonly reported from European cohort. The onset of dystonia was primarily noticed in the limb/cervical region in all cohorts. Partial to good response to globus pallidus interna deep brain stimulation (DBS) was reported from the European cohort. Brain magnetic resonance imaging was usually normal in all the cohorts. Frameshift and stop-gain variants were common in the European and Indian cohorts, whereas missense variants were common in the Chinese group. Segmental dystonia was common in frameshift variants (70%) and generalized dystonia in stop-gain variants.</p><p><strong>Conclusion: </strong>Our study showed geographically diverse differences in the phenotypic presentation of <i>VPS16</i>-associated dystonia as myoclonus, intellectual disability, and psychiatric symptoms were more common in the European cohort. Segmental dystonia was commonly observed in the frameshift variants and generalized dystonia in stop-gain variants.</p><p><strong>Highlights: </strong><i>VPS16</i>-associated dystonia is a new genetically mediated dystonic syndrome. The clinical presentation is heterogeneous in terms of intrafamilial and interfamilial variability of age at onset and severity of dystonia. We aimed to study the ethnic phenotypic and genotypic differences of <i>VPS16</i>-associated dystonia. Our study showed geographically-diverse differences in the phenotypic presentation as myoclonus, intellectual disability, and psychiatric symptoms were more common in the European cohort. Patients with frameshift variants had segmental dystonia, whereas those with stop-gain variants had generalised dystonia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"30"},"PeriodicalIF":2.5,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627179","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}
Margaret E Gerbasi, Rodger J Elble, Holly A Shill, Eddie Jones, Alexander Gillespie, John Jarvis, Elizabeth Chertavian, Zachary Smith, Ludy C Shih
{"title":"Work and Activity Impairment in Individuals with Essential Tremor.","authors":"Margaret E Gerbasi, Rodger J Elble, Holly A Shill, Eddie Jones, Alexander Gillespie, John Jarvis, Elizabeth Chertavian, Zachary Smith, Ludy C Shih","doi":"10.5334/tohm.1034","DOIUrl":"10.5334/tohm.1034","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) affects nearly 7 million people in the United States and consists of upper limb tremor that can affect activities of daily living, including activities related to work. Research examining the effect of ET on work productivity is limited and there are no studies using validated work productivity instruments.</p><p><strong>Methods: </strong>Clinic-based data were collected between March 2021 and August 2021 from US physicians participating in the Adelphi ET Disease Specific Programme (DSP). Patients were evaluated with the Essential Tremor Rating Assessment Scale (TETRAS), Quality of Life in Essential Tremor (QUEST) questionnaire, and the Work Productivity and Activity Impairment (WPAI) questionnaire. Statistical associations between tremor severity and work productivity were examined.</p><p><strong>Results: </strong>A total of 1,003 ET patients were identified, and 420 patients completed the WPAI questionnaire and were included in this study. Activity impairment was independently associated with tremor severity, adjusting for age, full-time vs. part-time employment, household income, depression, and anxiety. Of those who were employed (n = 165), 133 (80.6%) were employed full-time, and 141 (85.5%) had some level of work impairment. Work impairment was also independently associated with tremor severity, adjusting for the same covariates. Among those patients for whom QUEST responses were available, 47% (64/135) of patients with ET working full-time and 88% (36/41) of those working part-time reported that tremor interfered with work.</p><p><strong>Discussion: </strong>Work impairment is significantly correlated with tremor severity. Although a minority of patients in this clinic-based cohort were identified as employed, nearly all reported a negative impact on work performance.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"29"},"PeriodicalIF":2.5,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576345","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":"Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.","authors":"Claudia Del Gamba, Giulietta Maria Riboldi","doi":"10.5334/tohm.971","DOIUrl":"10.5334/tohm.971","url":null,"abstract":"<p><strong>Background: </strong>The diagnosis of genetic hyperkinetic movement disorders has become increasingly more complex as new genes are discovered and technologies offer new diagnostic possibilities. As a result, the choice of appropriate gene testing and the interpretation of the results can become difficult to navigate for movement disorder experts and clinicians. In parallel, research is becoming crucial to pair with clinical assessments in order to explore advanced sequencing technologies and allow new genes discovery.</p><p><strong>Methods: </strong>Systematic review of genetic forms of hyperkinetic movement disorders and of the most relevant genetic terminology was performed.</p><p><strong>Results: </strong>Comprehensive descriptions of genetic lexicon, testing selection, and complex genetic findings related to hyperkinetic movement disorders are reported.</p><p><strong>Discussion: </strong>Here we discuss the terminology of genetic diagnosis that is now part of the clinical practice, the difficulties related to the interpretation of complex genetic results, and provide guidance and tips for gene testing selection in order not to miss important diagnosis of genetic hyperkinetic movement disorders.</p><p><strong>Highlights: </strong>To review the most relevant lexicon related to genetic diagnosis, approach to gene testing, testing selection, and complex genetic findings in genetic hyperkinetic movement disorders.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"28"},"PeriodicalIF":2.1,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529635","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":"Scoping Review of Treatment Strategies for Holmes Tremor: Pharmacological and Surgical Interventions.","authors":"Gabriel Chung, Henrique Ballalai Ferraz","doi":"10.5334/tohm.1019","DOIUrl":"10.5334/tohm.1019","url":null,"abstract":"<p><strong>Background: </strong>Holmes tremor is a rare neurological condition, first described in 1904, characterized by a low-frequency tremor that manifests at rest, posture, and action. Despite its recognition for over a century, effective treatment strategies for Holmes tremor remain elusive due to its rarity and challenges in conducting robust studies.</p><p><strong>Methods: </strong>Given that the existent medical literature on Holmes tremor is based on reports and case series, we conducted a survey using the keywords \"Holmes tremor\" and \"Rubral tremor\" to analyze the therapeutic approaches utilized, as well as their success rate.</p><p><strong>Results: </strong>We have found 121 Holmes tremor patients across 97 publications. Levodopa and anticholinergics emerged as the most common employed pharmacological treatments, demonstrating significant response rates. Dopaminergic agonists are also promising therapeutic approaches, albeit with fewer reported cases. From the surgical perspective, functional neurosurgery offers substantial benefits to the symptomatic control of patients, with deep brain stimulation electrodes being a promising strategy.</p><p><strong>Discussion: </strong>Pharmacological treatment, specifically levodopa, anticholinergics and dopaminergic agonists exhibit the highest success rate in managing Holmes tremor. Additionally, surgical strategies may help tremor control as supported by previous reviews with quantitative analysis. However, the heterogeneity in the reporting of these cases underscores the need for standardized case descriptions to permit conclusions.</p><p><strong>Highlights: </strong>This study brings a new perspective to the treatment of HT, as it estimates which medications and interventions may be more consistent for the treatment for Holmes Tremor.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"27"},"PeriodicalIF":2.5,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369224","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}
Sujal Manohar, Jennifer Jacobe, Rebecca Berger, Joseph Jankovic, Mariam Hull
{"title":"Real-World Experiences with VMAT2 Inhibitors in Pediatric Hyperkinetic Movement Disorders.","authors":"Sujal Manohar, Jennifer Jacobe, Rebecca Berger, Joseph Jankovic, Mariam Hull","doi":"10.5334/tohm.1023","DOIUrl":"10.5334/tohm.1023","url":null,"abstract":"<p><strong>Background: </strong>Vesicular monoamine transporter 2 (VMAT2) inhibitors are often prescribed for the treatment of hyperkinetic movement disorders such as tics, stereotypy, tardive dyskinesia and chorea. These dopamine depleters have been FDA approved in adults for the treatment of chorea in Huntington's disease and tardive dyskinesia. Use of VMAT2 inhibitors in pediatric hyperkinetic movement disorders, however, is limited due to lack of pediatric FDA approval. We review the real-world prescribing practices and patient experiences with VMAT2 inhibitors in children.</p><p><strong>Methods: </strong>We performed a retrospective chart review of patients treated with VMAT2 inhibitors at a pediatric movement disorders clinic from 2011 to 2023. Demographics, indication, medical history, and clinical notes were reviewed.</p><p><strong>Results: </strong>We identified 340 pediatric patients (65.3% male, average age 11.9 years) who had been prescribed a VMAT2 inhibitor for a variety of hyperkinetic movement disorders (359 total prescriptions) at our large pediatric movement disorders center. Of the 359 prescriptions for VMAT2 inhibitors, 94% included tetrabenazine, 4.6% deutetrabenazine, and 1.4% valbenazine. Most common clinical indication was tics (73.5%), followed by chorea (9.1%) and self-injurious stereotypy (7.1%). Of these prescriptions, 75.8% (N = 275) successfully commenced treatment. Most patients (62.8%) had clinical improvement with an average Clinical Global Impression-Improvement of 1.8 (±1.2), indicating \"very much\" or \"much\" improved, but 11.5% experienced no improvement in symptoms. Most patients (63.9%) reported some side effects, most commonly drowsiness; however, only 35 (10.1%) necessitated discontinuation due to side effects. Seven patients were transitioned from tetrabenazine to deutetrabenazine with resolution of side effects, and one to valbenazine with similar effect. Of the 359 prescriptions, 194 (54%) experienced at least one denial from insurance companies; 24.2% were unable to initiate treatment due to barriers such as insurance denials and 19.6% expressed financial concerns regarding medication affordability.</p><p><strong>Discussion: </strong>Our study suggests that VMAT2 inhibitors are effective for treating pediatric hyperkinetic movement disorders. Furthermore, this study provides insights into barriers to access to these drugs by pediatric patients.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"26"},"PeriodicalIF":2.5,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144369223","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}
Elina Myller, Rolle Halonen, Daniel T Corp, Juho Joutsa
{"title":"Lesion-Induced Blepharospasm: Epidemiology and Clinical Characteristics.","authors":"Elina Myller, Rolle Halonen, Daniel T Corp, Juho Joutsa","doi":"10.5334/tohm.1025","DOIUrl":"10.5334/tohm.1025","url":null,"abstract":"<p><strong>Background: </strong>Lesion-induced blepharospasm is considered rare. However, this information is based on a small number of heterogenous retrospective cohorts without routine neuroimaging.</p><p><strong>Objectives: </strong>To study the epidemiology and clinical characteristics of lesion-induced blepharospasm.</p><p><strong>Methods: </strong>Patients with blepharospasm with uncertain etiology prior to brain imaging were systematically searched from the electronic medical records of Turku University Hospital (1996-2022). Clinical information and imaging data were extracted from the patients' records and re-evaluated by the investigators. Etiology of blepharospasm was evaluated by an in-depth review of the clinical information in the context of available literature on lesion-induced dystonias. The prevalence and annual incidence of blepharospasm were calculated based on the annual population count in the area.</p><p><strong>Results: </strong>The search identified 57 patients, of whom four (7.0%) were considered to have lesion-induced blepharospasm, corresponding to a population-based prevalence of 2.5 per million and annual incidence of 0.3 per million. All patients with lesion-induced blepharospasm had atypical features, which were all significantly more common than in patients with idiopathic blepharospasm (<i>P</i> < 0.05).</p><p><strong>Conclusions: </strong>Lesion-induced blepharospasm is more common than thought previously. However, all these patients showed atypical features, suggesting that brain imaging in blepharospasm can be limited to patients with atypical features only.</p><p><strong>Highlights: </strong>This study investigated the epidemiology of lesion-induced blepharospasm by systematically re-evaluating all patients with blepharospasm with uncertain etiology prior to structural brain imaging from a university hospital (1996-2022).Our results show that lesion-induced blepharospasm is more common that thought previously (7.0% of included patients, prevalence 2.5 per million, annual incidence 0.3 per million).All patients with lesion-induced blepharospasm showed clinical features that were considered atypical for idiopathic blepharospasm, indicating that routine brain imaging is not needed in patients with typical symptoms.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"25"},"PeriodicalIF":2.5,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12164745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302935","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":"Severe Whip-Like Cervical Tics as an Indication For Thalamic Deep Brain Stimulation: Report of Two Cases.","authors":"Masamune Tsuji, Kei Yamashiro, Takashi Morishita, Atsushi Hirota, Hitoshi Iida, Yasuhiko Baba, Hiroshi Abe","doi":"10.5334/tohm.1010","DOIUrl":"10.5334/tohm.1010","url":null,"abstract":"<p><strong>Background: </strong>Cervical spinal cord injury caused by cervical tics associated with Tourette syndrome (TS) is a recognized complication; however, the role of deep brain stimulation (DBS) in mitigating the risk of such injuries remains unclear.</p><p><strong>Case report: </strong>We report two cases of TS with severe cervical tics, both of which responded favorably to DBS. In one case, DBS prevented the progression of cervical spinal cord injury, whereas in the other case, it prevented its onset.</p><p><strong>Discussion: </strong>Poor control of severe cervical tics is a significant risk factor for cervical spinal cord injury, and early consideration of DBS is recommended.</p><p><strong>Highlights: </strong>This case report presents two cases in which deep brain stimulation (DBS) was effective for patients with Tourette syndrome exhibiting severe cervical tics. Through this report, we demonstrate the potential effectiveness of DBS as a treatment to reduce the risk of cervical spinal cord injury caused by severe cervical tics.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"24"},"PeriodicalIF":2.5,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094993","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":"\"Hyperkinetic\" and \"Hypokinetic\": Is There a Need for a Third Category (i.e., \"Mixed\")?","authors":"Sara M Schaefer, Elan D Louis","doi":"10.5334/tohm.997","DOIUrl":"10.5334/tohm.997","url":null,"abstract":"<p><p>Terminology in the field of movement disorders has evolved multiple times over the years. Traditionally, classification schema have utilized a two-category approach, with a hyper- and hypokinetic branchpoint as the first step towards describing movement disorders and elucidating phenomenological diagnoses. However, this terminology falls short, as it does not adequately capture the complexity of several abnormalities of movement- including ataxia and rigidity- at the electrophysiologic and phenotypic levels. Rather, these movement disorders are characterized by mixed hyper- and hypokinetic phenomena. We propose a third category, \"mixed\", which would optimally classify the full range of movements.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"23"},"PeriodicalIF":2.5,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12082446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144094992","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}