Movement Disorders Clinical Practice最新文献

{"title":"Persistent Therapeutic Burden after Device-Aided Therapy in Parkinson's Disease: Insights from Post-DAT MANAGE-PD Assessment.","authors":"Halil Onder, Murat Gültekin, Zehra Yavuz, Aslı Çıplaklıgil, Selçuk Comoglu","doi":"10.1002/mdc3.70861","DOIUrl":"10.1002/mdc3.70861","url":null,"abstract":"<p><strong>Background: </strong>Device-aided therapies (DAT) improve advanced Parkinson's disease (PD), but residual therapeutic burden may persist.</p><p><strong>Objectives: </strong>To explore MANAGE-PD as a framework for characterizing residual disease burden after DAT.</p><p><strong>Methods: </strong>In this multicenter cross-sectional study, 77 DAT-treated patients underwent independent MANAGE-PD assessment. Clinical characteristics, MANAGE-PD domains, clinician recommendations, and factors associated with Category 3 were analyzed.</p><p><strong>Results: </strong>Of 69 evaluable patients, 38 (55.1%) fulfilled Category 3 criteria, but only three (3.9%) were recommended for an additional DAT. Category 3 patients had more advanced disease, greater non-motor burden, poorer quality of life, and higher oral LEDD (907 vs. 450 mg/day). Freezing/gait impairment, painful dystonia, hallucinations, impulse-control disorders, and persistent OFF periods were major contributors. Only Hoehn and Yahr stage and residual oral LEDD remained independently associated with Category 3.</p><p><strong>Conclusions: </strong>Persistent therapeutic burden remains common despite DAT. MANAGE-PD may provide a framework for structured post-DAT reassessment.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genotype-Phenotype Correlations in THAP1-Associated Dystonia: A Multicentric Observational Study.","authors":"Arti Saini, Kamalesh Tayade, Divya Madathiparambil Radhakrishnan, Vikram V Holla, Rohan R Mahale, Nitish Kamble, Ravi Yadav, Divyani Garg, Ayush Agarwal, Prashanth Lingappa Kukkle, Divya Kalikavil Puthanveedu, Niraj Kumar, Narendrakumar Barad, Mitesh Chandarana, Laxmi Patil, Koustubh Bavdhankar, Ajith Cherian, Pankaj Agarwal, Syam Krishnan Nair, Mohit Bhatt, Binukumar Balachandran Krishnamma, Mohammed Faruq, Pramod Kumar Pal, Achal Kumar Srivastava, Roopa Rajan","doi":"10.1002/mdc3.70863","DOIUrl":"10.1002/mdc3.70863","url":null,"abstract":"<p><strong>Background: </strong>DYT-THAP1 is a recognized cause of early-onset isolated dystonia. However, available data are largely derived from European cohorts, limiting understanding of genetic diversity, phenotype variability, and treatment response in underrepresented populations.</p><p><strong>Objectives: </strong>To characterize the clinical spectrum, genetic architecture, genotype-phenotype correlations, and treatment outcomes in Asian Indian patients with DYT-THAP1.</p><p><strong>Methods: </strong>This multicentric, cross-sectional study included patients harboring pathogenic or likely pathogenic THAP1 variants. Clinical features, neuroimaging, and treatment responses were systematically assessed. Genetic testing comprised whole-exome sequencing, clinical exome sequencing, targeted gene panels, or Sanger sequencing. Variants were classified using ACMG criteria, and genotype-phenotype associations were analyzed.</p><p><strong>Results: </strong>Twenty-six patients from 22 families were identified (17 males; mean age 29.4 ± 12.9 years). Median age at onset was 13.0 years (IQR 10.0-23.5), with 69.2% presenting before 20 years. Dystonia commonly involved the upper limbs (68%), cervical region (28%), and larynx (20%) at onset, with progression to generalized dystonia in 64%. Seventeen distinct heterozygous THAP1 variants were detected, of which 10 (58.8%) were novel. Loss-of-function variants affected 57.7% of patients and were associated with greater motor severity (P = 0.023) and more frequent positive family history (P = 0.019). Exon 2 variants were more frequent in patients with tremor (P = 0.045).</p><p><strong>Conclusion: </strong>This study highlights the evolving mutational landscape of DYT-THAP1 beyond variants reported in Caucasian pedigrees and demonstrates novel, clinically relevant genotype-phenotype associations, underscoring the value of including underrepresented populations to bridge knowledge gaps in rare diseases.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cervical Dystonia Treatment with Injections Supplemented by Transcranial Magnetic Stimulation: The D-TWIST Pilot Randomized Controlled Trial.","authors":"Jessica Frey, Aparna Wagle Shukla, Janine Lobo Lopes, Lauren Fanty, Manahil Wajid, Adolfo Ramirez-Zamora, Irene A Malaty, Jackson Cagle, Coralie de Hemptinne, David M Scarisbrick, Patrick Worhunsky, Jun Yu","doi":"10.1002/mdc3.70862","DOIUrl":"10.1002/mdc3.70862","url":null,"abstract":"<p><strong>Background: </strong>For some patients with cervical dystonia (CD), botulinum toxin (BoNT) injections last less than 12 weeks.</p><p><strong>Objectives: </strong>To determine if a novel, accelerated repetitive transcranial magnetic stimulation (rTMS) protocol is a safe and feasible adjunctive treatment with BoNT for CD.</p><p><strong>Methods: </strong>Patients with CD reporting BoNT benefit lasting ≤9 weeks were enrolled in a randomized double-blind, sham-controlled, crossover study. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS), mood, cognitive, and gait measures were collected before, after, and 2-weeks following rTMS/SHAM.</p><p><strong>Results: </strong>In a homogenous subset of patients (N = 4/5), TWSTRS scores were lower 2-weeks following rTMS, but evidence of an effect was potentially limited by sample size. There was little evidence of rTMS effects on mood, cognition, or gait.</p><p><strong>Conclusions: </strong>Accelerated rTMS for CD was safe, feasible, and well-tolerated; larger randomized studies are needed to determine whether accelerated rTMS may be an effective treatment bridge for dystonia symptoms.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149171978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal Cognitive Function in Progressive Supranuclear Palsy-A Review of the Evidence for Progression.","authors":"Timothy P Siejka, Kelly L Bertram, Helmut Butzkueven, David Darby, Amy Brodtmann","doi":"10.1002/mdc3.70847","DOIUrl":"10.1002/mdc3.70847","url":null,"abstract":"<p><p>Progressive supranuclear palsy is a rare and rapidly progressive neurodegenerative syndrome. Clinical manifestations are heterogeneous and include Parkinsonism, postural instability, oculomotor dysfunction and cognitive impairment, with 80% of patients progressing to dementia within 3 years. Cognitive impairment is consistently associated with poorer outcomes independent of motor function, including increased mortality, morbidity, caregiver burden and healthcare utilization. The prototypic cognitive phenotype of PSP demonstrates marked deficits in executive functions and slowed processing speed accompanied by neuropsychiatric symptoms. Cross-sectionally, these deficits are readily detected across a range of cognitive screening tools and more comprehensive neuropsychological batteries. Brief bedside assessments, such as the Frontal Assessment Battery, are highly effective at differentiating PSP from idiopathic Parkinson's disease soon after motor symptom onset. However, as the field increasingly moves toward disease-modifying trials that include cognitive outcome measures the purpose of cognitive assessment shifts; from supporting a clinical diagnosis, to measuring progression thereafter. The sensitivity to change of commonly used cognitive outcome measures is therefore a priority. In this narrative review we evaluate longitudinal cognitive assessment in PSP. We specifically focus on the unique challenges of cognitive assessment in this patient group and propose measurement priorities for future development.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13650757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Effects of Automated Peripheral Stimulation on Autonomic and Functional Capacity in Parkinson's Disease.","authors":"Mauricio Esteban Flores-Quezada, Juan Pablo Bustamante-Aguirre, Maiter Loreto Espinoza-Espinoza, Diego Hernán Méndez-Alfaro, Valentina Helena Vásquez-Fuentes, Armando Andrés Cifuentes-Amigo, Antonio Roberto Zamunér","doi":"10.1002/mdc3.70852","DOIUrl":"10.1002/mdc3.70852","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is characterized by both motor and nonmotor impairments, including cardiovascular autonomic dysfunction. Automated mechanical peripheral somatosensory stimulation (AMPS) has shown potential to improve motor performance and cardiovascular autonomic regulation in patients with PD. However, evidence from randomized controlled trials regarding its immediate effect remains limited.</p><p><strong>Objectives: </strong>The aim of the study was to evaluate the acute effects of AMPS on heart autonomic control and functional capacity in patients with PD.</p><p><strong>Methods: </strong>Eighteen participants diagnosed with idiopathic PD (Hoehn and Yahr scale 1-3) underwent two AMPS sessions: (1) active and (2) sham, with the first session randomized by a blinded team member. A 2-week washout period separated the sessions. Physiological parameters, Timed Up and Go, Tinetti test, 10-m walk test, and linear heart rate variability (HRV) indexes were assessed.</p><p><strong>Results: </strong>A significant improvement was found in the balance item of the Tinetti test (P = 0.03, r = 0.86) and in gait velocity (P = 0.05; r = 0.61) after active AMPS. HRV index at rest showed that low-frequency (LF) and LF/high-frequency (HF) indices after active AMPS were significantly higher than those after sham AMPS (P = 0.049; d = 0.49; P = 0.049; d = 2.14, respectively). Additionally, HRV indexes in orthostatic and supine deltas revealed that the delta value of the LF/HF index after active AMPS was significantly lower than that after sham AMPS.</p><p><strong>Conclusions: </strong>A single session of AMPS acutely improved functional capacity and influenced cardiac autonomic control at rest and in response to an orthostatic challenge in patients with PD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13650550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregabalin in Dopamine Dysregulation Syndrome.","authors":"Shelby Adler, Daniela Fishbein, Jessica Ng","doi":"10.1002/mdc3.70818","DOIUrl":"10.1002/mdc3.70818","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13650958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Continuous Subcutaneous Apomorphine as a Temporary Bridging Therapy for Dopamine Dysregulation Syndrome in Patients with Deep Brain Stimulation.","authors":"Tobias Binder, Johannes Hartig, Lennart Sitzmann, Chi Wang Ip, Philipp Capetian, Florian Lange, Martin Reich, Christine Daniels, Jens Volkmann","doi":"10.1002/mdc3.70831","DOIUrl":"10.1002/mdc3.70831","url":null,"abstract":"<p><strong>Background: </strong>Dopamine dysregulation syndrome (DDS) is a challenging complication of dopaminergic therapy in Parkinson's disease and can persist despite subthalamic deep brain stimulation (STN-DBS). We evaluated a temporary bridging concept in which oral dopaminergic medication was replaced by continuous subcutaneous apomorphine infusion while maintaining DBS.</p><p><strong>Cases: </strong>Six patients with STN-DBS and DDS were temporarily transitioned from oral dopaminergic medication to continuous subcutaneous apomorphine infusion. Treatment success was defined as reduction of DDS below a predefined threshold (<3 characteristic DDS features). Four of six patients (66.7%) no longer fulfilled the operational DDS criteria. Typical apomorphine-related adverse effects occurred in all patients; however, nausea and malaise limited the treatment in two non-responders.</p><p><strong>Conclusions: </strong>In this uncontrolled case series, continuous subcutaneous apomorphine may represent a useful temporary adjunct to STN-DBS for managing DDS in selected patients. Treatment tolerability appears to be a major determinant of success and requires careful patient selection and monitoring.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Characteristics and Epidemiology of Isolated Dystonia: Results from a US Claims Analysis.","authors":"Michael S Oldham, Julie A Kerner, Bernard Ravina, Sonali Dasgupta, Joseph Imperato, James E Thornton","doi":"10.1002/mdc3.70856","DOIUrl":"10.1002/mdc3.70856","url":null,"abstract":"<p><strong>Background: </strong>Dystonia is a rare, chronic movement disorder that is underrecognized, leading to delayed diagnosis. Epidemiological estimates and real-world characterization of isolated dystonia, occurring in the absence of other motor or neurological disorders, are limited.</p><p><strong>Objectives: </strong>Estimate the US incidence and prevalence of isolated dystonia and characterize adults with isolated dystonia.</p><p><strong>Methods: </strong>The retrospective study utilized a real-world claims database to identify an adult cohort (n = 20,951) with an index visit, defined as the first coded visit for dystonia, between January 2017-December 2024. Key outcomes included demographic and clinical characteristics of the adult cohort and US epidemiological estimates of dystonia without an identified secondary cause.</p><p><strong>Results: </strong>The 2020-2023 period prevalence was 50.2 per 100,000, corresponding to an overall prevalence of 168,151 individuals with isolated dystonia in the US in 2023. Annual incidence (2020-2023) ranged from 31.8 to 41.5 per 100,000. The largest age group was 18-44 years (45.1%). Most adults were female (68.4%). High rates of anxiety (23%) and depression (15%) were observed. Focal dystonia was the most coded subtype (73%), and primary care providers were most associated with the index visit (30%). Adults had a mean of 8.5 physician office visits pre-index, increasing to 13.5 post-index.</p><p><strong>Conclusions: </strong>This study defines an isolated dystonia cohort in the US based on real-world evidence and systematic exclusion of secondary causes of dystonia. Estimated prevalence is within range of prior epidemiological studies, and the cohort showed increased rates of comorbid psychiatric disorders. Methods are needed to resolve inconsistencies between clinical classification and coding practices.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Drug-Refractory Dystonia: Benefits of Lamotrigine Therapy in a Case of SCN2A Epilepsy-Dyskinesia Syndrome.","authors":"Isobel S Platt, Patrick B Moloney, Sanjay M Sisodiya, Thomas T Warner","doi":"10.1002/mdc3.70842","DOIUrl":"10.1002/mdc3.70842","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13647037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Practical Tips for Interpreting Genetic Reports in Movement Disorders Clinics.","authors":"Katja Lohmann, Aleš Maver","doi":"10.1002/mdc3.70855","DOIUrl":"10.1002/mdc3.70855","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13650278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149137593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}