{"title":"Correction: Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.","authors":"Anhar Hassan","doi":"10.5334/tohm.1089","DOIUrl":"10.5334/tohm.1089","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.5334/tohm.747.].</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"40"},"PeriodicalIF":2.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144993594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Movement Disorders in Neurocysticercosis: A Systematic Review.","authors":"Ravindra Kumar Garg, Shweta Pandey, Apoorva Agrawal, Raza Abbas Mahdi, Sanjay Singhal","doi":"10.5334/tohm.1061","DOIUrl":"10.5334/tohm.1061","url":null,"abstract":"<p><strong>Background: </strong>Neurocysticercosis, caused by <i>Taenia solium</i> larvae, is a common parasitic infection of the central nervous system in endemic regions. Although seizures and headaches are the typical presentations, movement disorders represent a lesser-known but clinically important manifestation. This systematic review aimed to examine the spectrum, radiological correlates, treatments, and outcomes of movement disorders associated with neurocysticercosis.</p><p><strong>Methods: </strong>A comprehensive search of PubMed, Scopus, Embase, Web of Science, and Google Scholar was conducted to identify case reports, case series, and cohort studies reporting movement disorders in confirmed cases of neurocysticercosis. Included studies were assessed for clinical details, neuroimaging findings, cerebrospinal fluid results, type of movement disorder, treatment regimens, and outcomes. Quality assessment was done using Murad's framework for case reports.</p><p><strong>Results: </strong>A total of 45 patients were included: 21 presented with hypokinetic and 24 with hyperkinetic movement disorders. In the hypokinetic group, parkinsonism was the most common manifestation (52.38%) with basal ganglia and midbrain involvement. Levodopa was administered in 28.57%, and 47.62% achieved marked clinical improvement. In the hyperkinetic group, chorea (29.17%), facial dyskinesias (25%), and myoclonus (16.67%) were prevalent. Albendazole with corticosteroids was used in over 60% of cases, and 83.3% had full or marked recovery.</p><p><strong>Conclusions: </strong>Movement disorders in neurocysticercosis are diverse but potentially reversible. Early neuroimaging and targeted therapy yield favorable outcomes, especially in hyperkinetic presentations.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"38"},"PeriodicalIF":2.1,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875402","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":"Association Between Tremor Severity and Caregiving Intensity in 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.1046","DOIUrl":"10.5334/tohm.1046","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is a common movement disorder that affects the upper limbs in vital activities of daily living. Few studies have examined the impact of tremor severity on caregiving intensity.</p><p><strong>Methods: </strong>Clinic-based data were collected in the United States (US) from March 2021 to August 2021 through the Adelphi ET Disease Specific Programme (DSP). Linked data between physician and care partner/patient pairs were used to evaluate care partner-reported weekly hours of patient care. Tremor severity was assessed with the Essential Tremor Rating Assessment Scale (TETRAS) Performance and Activities of Daily Living subscales. Pearson chi-square, correlation and multivariate regression analyses were conducted to examine the relationships between tremor severity and hours of care partner assistance.</p><p><strong>Results: </strong>A quarter of 960 individuals with ET required care partners. Most care partners were spouses (61%), but other family members or friends also served as care partners. About 23% of care partners reported giving constant care, defined as 112 hours per week or more, while the remainder of care partners reported caregiving time averaging 24.5 hours per week. The probability of needing a care partner was significantly associated with tremor severity, and the association between care partner need and tremor severity was moderate (bivariate r = 0.32-0.37) and not substantially impacted by the inclusion of additional covariates (age, sex, race, comorbidity, relationship with patient, and living with patient).</p><p><strong>Discussion: </strong>Roughly 25% of patients with ET have care partner needs, and the number of care partner hours provided is correlated with tremor severity. Therefore, treatments that ameliorate tremor severity have the potential to reduce caregiving intensity in ET.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"37"},"PeriodicalIF":2.1,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800337","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":"Is Routine Neuroimaging Needed in Adult-Onset Isolated Cervical Dystonia?","authors":"Elina Myller, Oskari Korhonen, Juho Joutsa","doi":"10.5334/tohm.1049","DOIUrl":"10.5334/tohm.1049","url":null,"abstract":"<p><strong>Background: </strong>Clinical practices regarding neuroimaging in isolated cervical dystonia vary across countries and there are no published studies investigating the need of routine neuroimaging in this patient population.</p><p><strong>Objectives: </strong>To investigate if structural neuroimaging is needed in patients with isolated cervical dystonia.</p><p><strong>Methods: </strong>Patients with adult-onset cervical dystonia were identified from a systematic search of the medical records of Turku University Hospital 1996-2022. Clinical and structural neuroimaging data were reviewed by the investigators to evaluate the etiology of dystonia, specifically to identify cases of secondary dystonia caused by structural brain abnormalities.</p><p><strong>Results: </strong>365 patients with cervical dystonia without other movement disorders with presumed idiopathic or uncertain etiology prior to brain imaging were identified. 282 (77.3%) were scanned using head MRI or CT. Acquired brain lesions were identified in nine (2.5% of all patients) and were significantly more common in patients with vs. without (i.e. isolated) other neurological features (<i>P</i> < 0.001). Lesions in patients with other neurological features were considered likely (n = 4) or possibly (n = 2) causal, but all lesions in patients with isolated cervical dystonia (n = 3) were considered incidental. None of the patients showed signs of progressive neurodegeneration.</p><p><strong>Conclusions: </strong>Routine neuroimaging is not necessary in patients with adult-onset isolated cervical dystonia.</p><p><strong>Highlights: </strong>Studies investigating the need of structural neuroimaging in isolated, adult-onset cervical dystonia are scarce and opinions on this issue are divided among experts.In this study, we reviewed clinical and imaging data of all patients with cervical dystonia with presumed idiopathic or uncertain etiology prior to brain imaging treated at a regional tertiary care hospital between 1996-2022 to investigate the yield of structural brain imaging in these patients.Of the included 365 patients, none showed evidence of progressive neurodegeneration underlying the symptoms and only six (1.6%) showed acquired brain lesions that were considered possibly or likely causal for cervical dystonia.All the six patients with possible or likely lesion-induced cervical dystonia showed cervical dystonia combined with other neurological features, indicating that routine neuroimaging is not needed in isolated, adult-onset cervical dystonia.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"36"},"PeriodicalIF":2.1,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800338","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}
Gero Lueg, Timm Westhoff, Martin Fruth, Regina Kerkmann, Julia Krämer
{"title":"Oromandibular Dystonia and Dysphagia in Hyperglycemic Brainstem Dysfunction.","authors":"Gero Lueg, Timm Westhoff, Martin Fruth, Regina Kerkmann, Julia Krämer","doi":"10.5334/tohm.1062","DOIUrl":"10.5334/tohm.1062","url":null,"abstract":"<p><strong>Background: </strong>Hyperglycemia-induced movement disorders usually present as hemichorea or hemiballismus. Non-choreiform presentations are rare and often overlooked.</p><p><strong>Case report: </strong>We present the case of a 36-year-old man with uncontrolled type 2 diabetes who developed painful oromandibular dystonia, dysarthria and dysphagia. These symptoms were investigated using flexible endoscopic evaluation of swallowing (FEES). An MRI revealed reversible T2 hyperintensities in the pons without striatal involvement. The symptoms resolved with insulin normalization and tetrabenazine treatment.</p><p><strong>Discussion: </strong>Transient brainstem dysfunction due to hyperglycemia may present with oromandibular dystonia and dysphagia. FEES facilitates early detection of subtle yet clinically relevant complications.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"35"},"PeriodicalIF":2.1,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800339","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}
Aimee E Morris, Babatunde Adeyemo, Meghan C Campbell, Abraham Z Snyder, Joel S Perlmutter, Jonathan W Mink, Scott A Norris
{"title":"Thalamic and Visual Network Dysfunction Relates to Tremor Response in Thalamic Deep Brain Stimulation.","authors":"Aimee E Morris, Babatunde Adeyemo, Meghan C Campbell, Abraham Z Snyder, Joel S Perlmutter, Jonathan W Mink, Scott A Norris","doi":"10.5334/tohm.1039","DOIUrl":"10.5334/tohm.1039","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is the most common movement disorder in adults, but its pathogenesis is incompletely understood. Deep brain stimulation of the ventral intermediate thalamic nucleus (VIM DBS) provides effective treatment for medically-refractory cases. We aimed to determine how pre-surgical resting-state functional connectivity (FC) in medically-refractory ET relates to VIM DBS clinical response.</p><p><strong>Methods: </strong>We analyzed resting-state FC MRI in 21 participants with medically-refractory ET who subsequently underwent VIM DBS and 34 matched controls. We applied rigorous quality assurance to minimize motion artifact. Whole-brain correlation matrices were computed across 300 cortical, subcortical, and cerebellar regions and compared across groups using object-oriented data analysis, a powerful novel approach. We used multiple linear regression to determine whether network FC (calculated as mean cross-correlation between nodes) in defined networks predicts VIM DBS response. We assessed regional FC using a seed in motor thalamus.</p><p><strong>Results: </strong>Whole-brain correlation matrices and regional motor thalamus FC differed significantly between groups. Post-hoc network-level testing revealed decreased thalamus-somatomotor, thalamus-visual, and auditory-visual FC in ET versus controls. Regional FC showed increased primary motor cortex and decreased occipital-parietal and cerebellar FC with motor thalamus in ET relative to controls. Visual-lateral somatomotor network FC negatively predicted tremor improvement with VIM DBS.</p><p><strong>Discussion: </strong>Whole-brain, network, and regional FC results demonstrate cerebello-thalamo-motor pathway dysfunction in ET. Robust FC differences in motor and visual regions related to VIM DBS outcomes. These results, employing rigorous quality control, support the need for additional investigation into the role of visual cortical networks in ET and DBS response.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"34"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12315681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776262","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}
Maria Belen Justich, Alexandra Boogers, Andres M Lozano, Alfonso Fasano
{"title":"Fixing a Shaky Video to Remotely Program Deep Brain Stimulation.","authors":"Maria Belen Justich, Alexandra Boogers, Andres M Lozano, Alfonso Fasano","doi":"10.5334/tohm.963","DOIUrl":"10.5334/tohm.963","url":null,"abstract":"<p><p>Deep brain stimulation (DBS) is an increasingly utilized therapy for treating refractory tremor in Parkinson's disease (PD). Remote care can improve patient access to specialized DBS clinics. Here, we present a novel strategy to assess tremor remotely during DBS programming. We report the case of a 65-year-old female diagnosed with PD who showed only partial responsiveness to levodopa. She underwent bilateral subthalamic nucleus DBS surgery and was implanted with an Infinity™ implantable pulse generator with directional leads (Abbott, Chicago, IL, USA). Given that she resided 1,500 km from our center, device programming was performed remotely using the Neurosphere™ Virtual Clinic platform. The patient was instructed to hold her controller in a fixed position until her resting tremor re-emerged, which was visibly evident through a shaking video frame. Stimulation parameters were then optimized until the video frame became still. She reported sustained benefit during follow-up. We propose that this alternative method for remotely assessing upper limb tremor may offer advantages for healthcare providers, allowing them to base stimulation adjustments on visually observable tremor severity.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"15 ","pages":"33"},"PeriodicalIF":2.1,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12315674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776261","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}
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}