Movement Disorders Clinical Practice最新文献

{"title":"Reversible Camptocormia Secondary to Deep Infiltrating Endometriosis: A Treatable Non-Neurological Cause.","authors":"Juhun Lee, Pan-Woo Ko","doi":"10.1002/mdc3.70878","DOIUrl":"https://doi.org/10.1002/mdc3.70878","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Action Eyebrow Tremor in a Patient with Congenital Nystagmus: An Unusual Cranial Tremor Phenotype.","authors":"Laura Santos-Sánchez-de-Las-Matas, Carlos Manuel Ordás-Bandera, Adriana Gómez-Domínguez, Luis Yupanqui-Guerra, Agustín Querejeta-Coma","doi":"10.1002/mdc3.70870","DOIUrl":"https://doi.org/10.1002/mdc3.70870","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"VPS13A Disease (Chorea-Acanthocytosis) in Puerto Rico; New Genetic and Clinical Observations.","authors":"Cristal Alicea-Malave, Antonio Velayos-Baeza, Sylvette Ayala-Peña, Laura Surillo-Dahdah, Carmen Serrano, Matthew J Barrett, Sara E Berman, Alessandro Di Rocco, Kevin M Flanigan, Zachary B Jordan, Aaron Lasker, Mitesh Lotia, Alayne P Meyer, Priyanka Moondra, David K Simon, Matthew Swan, Carlos A Toro Chacon, Alexey Kozlenkov, Olivia Albers, Shahrukh Khalique, Klaudia Flora Laborc, Kurt Farrell, Eduardo Perez-Luciano, Ruth H Walker","doi":"10.1002/mdc3.70866","DOIUrl":"10.1002/mdc3.70866","url":null,"abstract":"<p><strong>Background: </strong>VPS13A disease is a very rare neurodegenerative disorder caused by mutations in the VPS13A gene. Its prevalence appears to be relatively high in Puerto Ricans, although limited genetic information has been available.</p><p><strong>Objectives: </strong>To describe the genetics of VPS13A disease (chorea-acanthocytosis) in Puerto Rico.</p><p><strong>Methods: </strong>Data were obtained from Puerto Rican patients with genetically confirmed VPS13A disease.</p><p><strong>Results: </strong>Eighteen cases were identified, all carrying at least one of four mutations, c.1400_1401del, c.3556_3557dup, c.3889C>T, and c.2825-253_2905-374del (exon_27-deletion); six additional single variants were detected. Seizures were the presenting symptom in 53% of patients.</p><p><strong>Conclusion: </strong>The presence of these probable founder mutations could explain the apparently increased prevalence in Puerto Rico; half of the described variants are newly described mutations and half have been previously reported. Enhanced clinical awareness of the spectrum of presenting symptoms and diagnostic clues, and improved access to genetic testing are essential for timely diagnosis in this population.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149207396","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":"Remote Video Assessment of Ataxia via SARA^home: Correlation of Pose-Derived Endpoints with Clinician Severity Ratings.","authors":"Rabia Aziza, Elisa Ferrer, Fereshteh Poursaeed, Vivian Maas, Jennifer Faber, Arian Taheri Amin, Katharina Hill, Matthis Synofzik, Lisa H Graf, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia-Moreno, Magda M Santana, Jeannette Hübener-Schmid, Elin H Davies, Thomas Klockgether, Marcus Grobe-Einsler","doi":"10.1002/mdc3.70854","DOIUrl":"10.1002/mdc3.70854","url":null,"abstract":"<p><strong>Background: </strong>Remote assessment of ataxia is increasingly important for patient-centered care and clinical research. SARA^home, a validated video-based adaptation of the Scale for the Assessment and Rating of Ataxia (SARA), enables self-administration of key motor tasks at home.</p><p><strong>Objective: </strong>The aim was to evaluate the correlation of pose-derived gait and stance endpoints from SARA^home videos with clinician-rated severity.</p><p><strong>Methods: </strong>In a multisite observational study, participants recorded SARA^home tasks on consumer mobile devices via the Atom5^TM app. Clinicians rated videos using standardized criteria, blinded to automated outputs. Kinematic measures were extracted via pose estimation and aggregated to video-level features. Videos were aggregated per participant before correlation using Spearman's ρ and Kendall's τ, with 95% cluster-bootstrap confidence intervals.</p><p><strong>Results: </strong>We analyzed 5418 gait and stance videos from 58 participants across 4 sites (gait n = 2205, stance n = 3213). Score distribution was skewed toward lower severity. For gait, clearance variability (ρ = 0.52 [0.37-0.64]) and median-normalized base of support (ρ = 0.51 [0.35-0.66]) correlated most strongly with item ratings, followed by shoulder sway root mean square (ρ = 0.43 [0.24-0.60]). Adjusted foot clearance (worse limb) correlated negatively (ρ = -0.35 [-0.52 to -0.15]). For stance, anteroposterior sway (ρ = 0.51 [0.36-0.65]), leg alignment variability (ρ = 0.51 [0.36-0.65]), and composite sway (ρ = 0.48 [0.32-0.62]) were most associated with severity. Base of support widened monotonically with severity and was the most reliable gait feature (intraclass correlation coefficient [ICC] = 0.88).</p><p><strong>Conclusions: </strong>Pose-derived digital endpoints from home-captured SARA^home videos show robust, clinically interpretable correlation with severity, supporting scalable remote phenotyping. Findings motivate longitudinal validation toward clinical and regulatory utility.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149207402","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":"Prevalence and Associations of Abnormal Levels of Vitamin B6 in People with Parkinson's Disease.","authors":"Karlo J Lizarraga, Lu Wang, Hannah Mesmer, Nami Shah, William Barbosa, Eric Logigian, Michael P McDermott, Anthony E Lang","doi":"10.1002/mdc3.70865","DOIUrl":"10.1002/mdc3.70865","url":null,"abstract":"<p><strong>Background: </strong>In people with Parkinson's disease, abnormal levels of vitamin B6 may be associated with polyneuropathy and epileptic seizures, including medication-refractory status epilepticus.</p><p><strong>Objectives: </strong>To estimate the prevalence and explore associations of abnormal levels of vitamin B6 in people with Parkinson's disease.</p><p><strong>Methods: </strong>In this cross-sectional study, fasting serum levels of vitamin B6 and related metabolites were measured in 144 people with Parkinson's disease randomly recruited from eligible clinic patients, compared with 144 historical controls matched for age, sex, diet, and vitamin supplementation. Mixed-effects logistic regression was used to compare the prevalences of abnormal B6 levels, and mixed-effects analysis of variance was used to compare mean B6 levels between groups. Mixed effects regression models were used to examine associations between B6 levels and pre-defined demographic and clinical variables.</p><p><strong>Results: </strong>Mean age was 71 years (range = 43-87) and 38.2% were female. Almost all were treated with carbidopa/levodopa (n = 140/144, mean levodopa dosage = 800 mg/day, mean treatment duration = 78 months). The prevalence of B6 deficiency in people with Parkinson's disease was 36.1% compared to 4.9% in controls (OR = 11.4, 95% CI = 4.9-26.5, p < 0.001). The average B6 level in people with Parkinson's disease was approximately half of that in controls (ratio of geometric means = 0.49, 95% CI = 0.41-0.58, p < 0.001). The severity of levodopa-associated motor complications (p = 0.04) and the presence of epileptic seizures (p = 0.006) were associated with lower log-transformed B6 levels.</p><p><strong>Conclusions: </strong>Vitamin B6 deficiency is highly prevalent in people with Parkinson's disease. Active monitoring should be conducted in those with levodopa-associated motor complications or epileptic seizures.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149183354","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":"Accuracy of Machine Learning in Differential Diagnosis of Multiple System Atrophy: A Systematic Review and Meta-Analysis.","authors":"Guisheng Wang, Chao Nie, Meichen Liu","doi":"10.1002/mdc3.70857","DOIUrl":"10.1002/mdc3.70857","url":null,"abstract":"<p><strong>Background: </strong>Multiple system atrophy (MSA) is frequently misdiagnosed as Parkinson's disease (PD) or progressive supranuclear palsy (PSP), posing significant diagnostic challenges.</p><p><strong>Objective: </strong>The aim of the study was to systematically evaluate the efficacy of machine learning (ML) in differentiating MSA from other neurodegenerative disorders.</p><p><strong>Methods: </strong>We conducted a systematic search in PubMed, Embase, Cochrane Library, and Web of Science (up to July 5, 2025), including ML-based MSA diagnostic studies. QUADAS-2 assessed bias risk, and a bivariate mixed-effects model synthesized diagnostic metrics.</p><p><strong>Results: </strong>A total of 51 studies (comprising 3595 MSA patients and 18,189 total cases) were included in the systematic review. Of these, 38 studies contributed to the quantitative synthesis, whereas the remaining 13 studies were summarized qualitatively. In the primary analysis comparing MSA with PD, the pooled sensitivity was 0.86 (95% confidence interval [CI]: 0.81-0.90), specificity 0.87 (95% CI: 0.83-0.90), and the area under the summary receiver operating characteristic (SROC) curve (AUC) 0.93 (95% CI: 0.90-0.95). Overall, pooled sensitivity was 0.85 (95% CI: 0.82-0.88), specificity 0.92 (95% CI: 0.89-0.94), and AUC 0.94 (95% CI: 0.92-0.96). Positron emission tomography (PET)-based models achieved optimal performance (sensitivity: 0.90, specificity: 0.96, AUC: 0.97), whereas deep learning models outperformed others (sensitivity: 0.93, specificity: 0.98, AUC: 0.99).</p><p><strong>Conclusion: </strong>ML models integrating PET/magnetic resonance imaging (MRI) data demonstrate high diagnostic accuracy for MSA. Future work should prioritize prospective multicenter validation and standardized external testing to facilitate clinical implementation.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149183394","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":"Disease Duration Differentiates Freezing of Gait Response to Subthalamic and Nigral Stimulation for Parkinson's Disease in an Exploratory Multicenter Controlled Trial.","authors":"Daniel Weiss, Idil Cebi, Marion Schütt, Imma Fischer, Lukas Pavelka, Pierre Kolber, Monika Pötter-Nerger, Wolfgang Hamel, Andrea A Kühn, Christian J Hartmann, Kai Bötzel, Thomas Köglsperger, Michael T Barbe, Zacharias Kohl, Steffen Paschen, Markus A Hobert, Sergiu Groppa, Tobias Warnecke, Inga Claus, Rejko Krüger, Alireza Gharabaghi","doi":"10.1002/mdc3.70813","DOIUrl":"10.1002/mdc3.70813","url":null,"abstract":"<p><strong>Background: </strong>Freezing of gait (FoG) belongs to most pressing unmet symptoms in the treatment of Parkinson's disease.</p><p><strong>Objectives: </strong>To explore whether combined subthalamic and nigral (STN + SNr) deep brain stimulation improves FoG compared with optimized STN stimulation alone; to identify clinical variables associated with therapeutic response.</p><p><strong>Methods: </strong>In this exploratory multicenter randomized controlled double-blind trial, we recruited patients from our existing cohorts and randomized them 1:1 to STN or STN + SNr. After baseline, patients were followed with close interim visits (visits 1-5) for 90 days (visit 6). The Freezing of Gait Assessment Course (FoG-AC) was the primary endpoint and was evaluated at P < 0.2 with exploratory intent. Secondary endpoints assessed responder rates, treatment dynamics, predictors of response, and patient preferences.</p><p><strong>Results: </strong>At V6, STN (n = 23) and STN + SNr (n = 22) FoG-AC outcomes did not differ significantly. We identified responders with clinically meaningful FoG improvement in both the STN (n = 7) and STN + SNr (n = 8) groups. In STN + SNr responders, mean disease duration was ~12 years, which was ~4.5 years shorter than in non-responders, but there were no differences in motor and cognitive functions. Treatment dynamics suggested that FoG responders improved slowly and gradually. The STN + SNr responder group showed numerically stronger FoG improvement compared with STN responders. Additionally, 15 STN compared to 10 STN + SNr patients wished to change treatment after the RCT phase and before unblinding. Both STN and STN + SNr treatment was safe.</p><p><strong>Conclusions: </strong>Future trials evaluating adjunctive STN + SNr stimulation should stratify patients by disease duration to optimize outcomes.</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/PMC13655711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170084","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":"Caregiver Burden and Its Determinants After Subthalamic Nucleus Deep Brain Stimulation for Parkinson's Disease: A Cross-Sectional Long-Term Follow-Up Study.","authors":"Inês Margarido, Cristina Pacheco, João Ramos, Clara Chamadoira, Manuel Rito, Ana Oliveira, Maria José Rosas, Manuel J Ferreira-Pinto, Carolina Soares","doi":"10.1002/mdc3.70851","DOIUrl":"10.1002/mdc3.70851","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is a progressive neurodegenerative disorder, leading to increasing functional dependence even after deep brain stimulation (DBS). Although DBS improves motor outcomes, its long-term impact on caregiver burden remains poorly understood.</p><p><strong>Objectives: </strong>Our aims were to evaluate caregiver burden after subthalamic nucleus (STN)-DBS and identify patient- and caregiver-related factors associated with burden across different postoperative time points.</p><p><strong>Methods: </strong>A cross-sectional study of caregivers of PD patients who underwent STN-DBS at a tertiary center, stratified by time since surgery (2-3, 5-6, 10-11, and ≥15 years), was conducted. Caregivers completed the Zarit Burden Interview, Hospital Anxiety and Depression Scale, and an investigator-developed questionnaire. Patient clinical data, including the Unified Parkinson's Disease Rating Scale (UPDRS), Part III, scores, were obtained from medical records. Group comparisons and multivariable regression analyses were performed to identify factors associated with caregiver burden.</p><p><strong>Results: </strong>Eighty-eight patient-caregiver pairs were included. Caregivers were predominantly female (62.5%), with a mean age of 60.0 ± 12.3 years. Caregiver burden was mild to moderate but increased independently with longer time postsurgery. Higher burden was associated with younger caregiver age, higher anxiety and depression scores, greater caregiving time, less personal time, and patient-related factors, including dysphagia, dementia, and male sex. Motor severity (UPDRS III, falls, postural instability) was not associated with caregiver burden. Most caregivers considered STN-DBS beneficial and would choose surgery again.</p><p><strong>Conclusions: </strong>Caregiver burden increased with longer time after STN-DBS and was associated with dementia, dysphagia, and caregiver-related factors but not with motor severity. Several associated factors are potentially modifiable, supporting systematic caregiver assessment and targeted interventions as part of long-term PD management.</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/PMC13655710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149171314","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":"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}