Movement Disorders Clinical Practice最新文献

{"title":"Parkinsonism and Cortical Myoclonus Due to Cryptococcal Encephalitis.","authors":"Benedetta Angeloni, Paula Gosse, Marcus Callister, Christos Ganos","doi":"10.1002/mdc3.70859","DOIUrl":"10.1002/mdc3.70859","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13639319/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112455","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":"Defining the Clinical Phenotypic Ground Truth: Expert Interrater Agreement in Hyperkinetic Movement Disorders.","authors":"Madelein van der Stouwe, Olof Vermeulen, Wieke Eggink, Tove Henriksen, Eavan McGovern, Marenka Smit, Selma Aybek, Agnita Boon, Rick Brandsma, Andres Deik, Roberto Erro, Alberto Espay, Cristian Falup-Pecurariu, Stephen Frucht, Christos Ganos, Emilia Gatto, Rick Helmich, Christine Klein, Hans Koelman, Vincent Odekerken, Lisette Koens, Abhimanyu Mahajan, Francesca Morgante, Alexander Münchau, Pattamon Panyakaew, Kathryn Peall, Bélen Pérez-Dueñas, Emanuel Roze, Anna Sadnicka, Susanne Schneider, Petra Schwingenschuh, Tereza Serranova, Matej Skorvanek, Maria Stamelou, Gertrúd Tamas, Michele Tinazzi, Anna Valadas, Wim Vandenberghe, Jeroen de Vries, Rodi Zutt, Sterre van der Veen, Rogier Luiken, Inge Tuitert, Marina Tijssen","doi":"10.1002/mdc3.70808","DOIUrl":"https://doi.org/10.1002/mdc3.70808","url":null,"abstract":"<p><strong>Background: </strong>Reliable clinical phenotyping is crucial for diagnosis, treatment, and research in hyperkinetic movement disorders, yet its interrater reliability remains uncertain.</p><p><strong>Objectives: </strong>To quantify interrater agreement in clinical phenotyping of hyperkinetic movement disorders among experts in a large, phenotypically diverse cohort.</p><p><strong>Methods: </strong>Within the NEMO project, 161 patients with hyperkinetic movement disorders underwent standardized video assessments. Each patient was independently classified by three international movement disorders experts in a structured, stepwise procedure. Experts first assessed videos alone, then received clinical history and examination, and finally diagnostic test results. At each step, they assigned primary and secondary phenotypes and rated their diagnostic confidence. Interrater agreement was assessed using Fleiss' and Cohen's kappa.</p><p><strong>Results: </strong>Across all phenotypes, interrater agreement on the primary phenotype increased with added information (κ = 0.457 to κ = 0.607). Agreement with the NEMO reference classification similarly improved (κ = 0.478 to κ = 0.656). Among patients with a single dominant phenotype, agreement reached κ = 0.78. In 93% of cases, at least two out of three experts reached consensus. Agreement was substantially lower in patients with mixed or complex presentations, such as myoclonus-dystonia and functional movement disorders. Diagnostic certainty rose throughout, though secondary phenotype agreement remained poor. Experts rarely revised initial impressions, suggesting robust pattern recognition but also potential confirmation bias.</p><p><strong>Conclusions: </strong>Movement disorders specialists can reliably identify hyperkinetic phenotypes, even without in-person assessment. While complex, mixed and functional presentations remain diagnostically challenging, our findings reinforce the value of expert phenotyping in clinical care, training, and research, and provide a benchmark for future studies and computational approaches.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13636365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112437","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":"Effect of Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion on Parkinson's Disease-Related Pain: A 6-Month Real-World Longitudinal Study.","authors":"Kristi Meksi, Clara Simonetta, Valerio Ferrari, Giovanni Minutilli, Matteo Conti, Francesca Avvento, Tommaso Schirinzi, Diego Centonze, Alessandro Stefani, Mariangela Pierantozzi","doi":"10.1002/mdc3.70849","DOIUrl":"https://doi.org/10.1002/mdc3.70849","url":null,"abstract":"<p><strong>Background: </strong>Foslevodopa/foscarbidopa (LDp/CDp) infusion may reduce PD-related pain; however, its effects on different pain manifestations remain unclear.</p><p><strong>Objective: </strong>The aim was to evaluate longitudinal changes in overall and domain-specific PD-related pain after LDp/CDp infusion.</p><p><strong>Methods: </strong>Twenty-six patients with advanced PD initiating LDp/CDp infusion underwent evaluation at baseline (T0) and 6 months (T1). Pain was assessed using the King's Parkinson's Disease Pain Scale (KPPS). Secondary outcomes included motor complications, quality of life (QoL), dopaminergic treatment burden, and pain-motor correlations.</p><p><strong>Results: </strong>At T1, KPPS total score decreased (9.6 ± 6.5 vs. 2.7 ± 4.7, P < 0.001), with improvements in chronic (P = 0.01), fluctuation-related (P < 0.001), and nocturnal (P < 0.001) pain. Motor complications reduced (P < 0.001), and fluctuation-related pain reduction correlated with motor complication changes (ρ = 0.46, P = 0.04). QoL improved (P = 0.006), whereas dopaminergic treatment burden was unchanged.</p><p><strong>Conclusions: </strong>LDp/CDp infusion improved PD-related pain, particularly chronic, fluctuation-related, and nocturnal pain, with a parallel improvement in QoL, suggesting benefits beyond motor complication management.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13635645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112465","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":"Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene-Based Classification and a Reappraisal of the Oculomotor Phenotype.","authors":"Luiz Eduardo Novis, Flávio Moura Rezende Filho, Anna Maria Gomes, Victor Rebelo Procaci, Orlando Graziani Povoas Barsottini, José Luiz Pedroso","doi":"10.1002/mdc3.70846","DOIUrl":"https://doi.org/10.1002/mdc3.70846","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13633394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112492","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":"Movement Disorder Society Unified Parkinson's Disease Rating Scale Part III cannot Be Reliably Reduced for Predicting Time to Initiation of Parkinsonian Medication in Early Parkinson's Disease: An Item-Level Sensitivity Analysis.","authors":"Mohammad Samsul Alam, Glenn T Stebbins, Tiago A Mestre, Christopher G Goetz, Sheng Luo","doi":"10.1002/mdc3.70843","DOIUrl":"https://doi.org/10.1002/mdc3.70843","url":null,"abstract":"<p><strong>Background: </strong>The sum of clinician-rated MDS-UPDRS Part III Motor Examination items is widely used in Parkinson's disease (PD), but item- or subset prognostic value remains unclear. Whereas reduced subsets of patient-reported Parts IB + II show improved utility for predicting time to PD medication initiation, the validity of similar Part III subsets is unknown.</p><p><strong>Objectives: </strong>Determine whether a subset of MDS-UPDRS Part III items is superior in prognostic value to the full scale for time to PD medication initiation in early disease.</p><p><strong>Methods: </strong>Harmonized longitudinal data from six early PD cohorts, with time to PD medication initiation as the primary outcome, were analyzed using a longitudinal item response theory model to rank items, combining discrimination and information. Rank-driven cumulative subsets were formed to analyze the primary outcome using time-varying Cox models under clinically relevant follow-up windows. Subset performance was assessed using the C-index and compared with the full-item model using Wald tests. Successful item reduction required stable, significant improvement across all follow-up windows.</p><p><strong>Results: </strong>No item subset met the predefined criteria for stable and superior prognostic performance relative to the full Part III scale. Best reduced-subset versus full-model C-indices were similar and non-significant: 0.582 versus 0.581 under full follow-up, 0.602 versus 0.602 at 1 year, and 0.586 versus 0.585 at 2 years.</p><p><strong>Conclusions: </strong>Unlike Parts IB and II, no sensitivity-driven reduced subset significantly and consistently outperformed the full MDS-UPDRS Part III in predicting time to PD medication initiation in early PD, not supporting a reduction of the 33-item scale in this setting.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13633438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112493","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":"High Prevalence and Clinical Impact of Fibromyalgia in Functional Motor Disorder.","authors":"Tereza Serranová, Lucia Nováková, Martin Jirásek, Barbora Křupková, Evžen Růžička, Michele Tinazzi, Tomáš Sieger","doi":"10.1002/mdc3.70674","DOIUrl":"10.1002/mdc3.70674","url":null,"abstract":"<p><strong>Background: </strong>Fibromyalgia is characterized by widespread pain, fatigue, sleep and cognitive symptoms. It overlaps clinically with functional motor disorder (FMD), yet its prevalence and impact in FMD remain uncertain.</p><p><strong>Objective: </strong>To determine the prevalence of fibromyalgia in FMD using the current criteria and evaluate its effects on motor symptoms and health-related quality of life (HRQoL).</p><p><strong>Methods: </strong>A total of 138 consecutive FMD patients completed the Fibromyalgia Survey Questionnaire, subjective motor ratings and HRQoL measures. Motor impairment was assessed using the Simplified FMD Rating Scale, and physical/psychiatric comorbidities and medication use were recorded.</p><p><strong>Results: </strong>Fibromyalgia was present in 44.9% of patients (95% CI: 36.5-53.6%). Those with fibromyalgia had more severe motor symptoms, lower HRQoL and greater medication use. Higher fibromyalgia severity, S-FMDRS, and psychiatric comorbidity were independent predictors of lower HRQoL.</p><p><strong>Conclusions: </strong>Fibromyalgia is common in FMD and associated with worse clinical outcomes, supporting systematic screening and integrated management.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2564-2569"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147931640","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":"Reply to: \"GJA1R148Q Variant Independently Cause Spastic Paraparesis or Interact with Other Pathogenic Variants?\"","authors":"Paula Pérez-Torre, César Aguilera Vega, Jose Luis López-Sendon","doi":"10.1002/mdc3.70667","DOIUrl":"10.1002/mdc3.70667","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2653-2654"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147817891","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":"Sex Differences in Fall Frequency, Risk Factors, and Outcomes in Parkinson's Disease: A Cross-Sectional Analysis.","authors":"Joaquin A Vizcarra, Kat Hefter, David-Erick Lafontant, Michael Tran Duong, Ashkan Ertefaie, Brian Litt, Dani S Bassett, Andrew Siderowf","doi":"10.1002/mdc3.70664","DOIUrl":"10.1002/mdc3.70664","url":null,"abstract":"<p><strong>Background: </strong>Female sex is an independent fall risk factor in Parkinson's disease (PD), yet sex-specific fall patterns remain unclear.</p><p><strong>Objectives: </strong>To compare sex-specific fall risk and outcomes across PD, prodromal alpha-synucleinopathy (PAS), and healthy controls (HC); estimate fall frequency across PD progression; and assess how sex modifies fall risk and outcomes.</p><p><strong>Methods: </strong>Fall outcomes were analyzed in the Parkinson's Progression Markers Initiative. Yearly rates of rare and frequent falls were estimated by time since diagnosis. PD participants were classified as never, rare, or frequent fallers. Clinical measures included motor, cognitive, behavioral, sleep, and autonomic domains. Outcomes included injuries and healthcare utilization. Regression models adjusted for age, sex, and disease duration with Benjamini-Hochberg correction.</p><p><strong>Results: </strong>Among 3100 participants (937 PD, 1926 PAS, 237 HC; 6977 visits), PD participants had higher odds of falling than PAS (OR 1.66, 95% CI 1.46-1.87) and HC (OR 4.03, 95% CI 3.14-5.23). In PD and PAS, females had higher odds of injuries (OR 1.50, 95% CI 1.20-1.88) and fractures (OR 1.62, 95% CI 1.15-2.29), including hip (OR 2.30, 95% CI 1.09-4.91) and upper-extremity fractures (OR 2.67, 95% CI 1.51-4.85). Within PD, falls increased with disease duration and were higher in females (7 years: 42% vs. 32%; 14 years: 88% vs. 61%) despite milder clinical profiles. Across the Neuronal Synuclein Disease-Integrated Staging System (NSD-ISS) stages, fall occurrence was higher in females.</p><p><strong>Conclusion: </strong>Falls increase with disease duration and NSD-ISS stage. Female PD participants are at greater risk despite milder symptoms, supporting sex-specific prevention strategies.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2458-2473"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840257","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":"Improving Advance Care Planning for People with Parkinson's.","authors":"Bradley Lonergan, Peter Miller, Elisabete Marques, Yen Tai, Anette Schrag","doi":"10.1002/mdc3.70706","DOIUrl":"10.1002/mdc3.70706","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2428-2432"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148199533","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":"Effect of COMT and UGT1A Variants on Clinical Response to Opicapone in Parkinson's Disease.","authors":"Elena Ojeda-Lepe, Sergio García-Díaz, Laura Muñoz-Delgado, Miguel Martín-Bórnez, Silvia Jesús, Dolores Buiza-Rueda, Marta Bonilla-Toribio, Rafael Díaz-Belloso, Daniel Macías-García, Astrid Adarmes-Gómez, Antonio Luque-Ambrosiani, Rocío Pineda-Sánchez, Lorena Clavijo-Jiménez, Fátima Carrillo-García, Pilar Gómez-Garre, Pablo Mir","doi":"10.1002/mdc3.70751","DOIUrl":"10.1002/mdc3.70751","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is the second most common neurodegenerative disease. Symptomatic treatment is based on dopaminergic replacement. With disease progression, the initial benefit of levodopa becomes inconsistent, and motor complications emerge. One strategy used to maintain stable levodopa plasma levels throughout the day is the use of opicapone, a catechol-O-methyltransferase (COMT) inhibitor. Despite its efficacy, there is variability in the therapeutic response and development of adverse events to this drug. Variants in the COMT and UGT1A genes have been proposed to modulate the effect of this medication, either positively or negatively.</p><p><strong>Objective: </strong>To assess the impact of COMT and UGT1A genetic variants on opicapone efficacy in PD patients.</p><p><strong>Methods: </strong>We conducted a retrospective study of 237 PD patients treated with opicapone between May 2017 and June 2025. The COMT rs4818, rs4680, rs4633 and rs6269, and UGT1A rs1105880 SNPs were genotyped. Three established COMT activity haplotypes (low, medium, and high) were evaluated alongside clinical characteristics and treatment response.</p><p><strong>Results: </strong>COMT rs4818 and rs6269 heterozygosity was associated with improvement in motor fluctuations. The low activity COMT haplotype was associated with improved motor fluctuations, whereas the medium activity COMT haplotype showed only a nominal protective association against dyskinesia worsening. The UGT1A rs1105880 dominant model was significantly associated with improvement in motor fluctuations. No variant was associated with treatment discontinuation.</p><p><strong>Conclusions: </strong>These results suggest that COMT and UGT1A genotyping may contribute to personalized therapy in PD, although prospective validation is needed.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2517-2525"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13382976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148520628","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}