Movement Disorders Clinical Practice最新文献

{"title":"Early-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.","authors":"Jiuqi Yan, Xinyi He, Chang Qiu, Yue Lu, Liang Zhao, Bei Luo, Wenwen Dong, Jian Sun, Lei Chang, Xiang Wei, Jun Yan, Wenbin Zhang","doi":"10.1002/mdc3.14221","DOIUrl":"https://doi.org/10.1002/mdc3.14221","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365877","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":"In Memoriam Kapil Sethi, M.D. (1953-2024).","authors":"Matthew B Stern, Anthony Lang","doi":"10.1002/mdc3.14204","DOIUrl":"https://doi.org/10.1002/mdc3.14204","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365878","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":"A Novel ANO3 Gene Mutation Associated with a Dystonia-Ataxia Syndrome.","authors":"Feng Fu, Yixin Kang, Jiaxiang Li, Nan Jin, Xiaosheng Zheng, Zhidong Cen, Wei Luo","doi":"10.1002/mdc3.14212","DOIUrl":"https://doi.org/10.1002/mdc3.14212","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350562","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":"Validation of a 5-Year Prognostic Model for Parkinson's Disease.","authors":"Joana Ribeiro, Marta Camacho, Kirsten M Scott, Julia C Greenland, Jonathan R Evans, David P Breen, Ruwani S Wijeyekoon, Roger A Barker, Caroline H Williams-Gray","doi":"10.1002/mdc3.14215","DOIUrl":"https://doi.org/10.1002/mdc3.14215","url":null,"abstract":"<p><strong>Background: </strong>A simple prognostic model was previously developed to predict the probability of recently-diagnosed patients reaching negative outcomes (postural instability, dementia or death) in a 5-year period.</p><p><strong>Objectives: </strong>To validate this model in an independent cohort and establish utility at later time points.</p><p><strong>Methods: </strong>Validation was performed using data collected in an incident cohort at baseline, 2 and 4 years. Predicted negative outcome probabilities were compared to actual 5-year outcomes.</p><p><strong>Results: </strong>The model, based on age, MDS-UPDRS axial score and 60-second animal fluency, predicted poor 5-year outcome when applied at baseline, (area under the curve (AUC) 0.80), 2 years (AUC 0.82) and 4 years (AUC 0.71). Power calculations showed that selecting a subgroup with prognostic score >0.5 reduced the sample size required for a disease-modifying trial.</p><p><strong>Conclusions: </strong>This 5-year prognostic model has good accuracy when employed up to 4 years from diagnosis and may help stratification for disease-modifying trials.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350566","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":"Dystonic Tremor as Main Clinical Manifestation of SCA21.","authors":"Vidal Yahya, Claudio Baiata, Edoardo Monfrini, Sandrine Correia, Gloria Brescia, Alessio Di Fonzo, Elena Moro","doi":"10.1002/mdc3.14220","DOIUrl":"https://doi.org/10.1002/mdc3.14220","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 21 (SCA21) is a rare inherited neurological disorder characterized by motor, cognitive, and behavioral disturbances, caused by autosomal dominant TMEM240 variants.</p><p><strong>Objectives: </strong>To identify the genetic cause of a dystonic tremor with autosomal dominant inheritance.</p><p><strong>Methods: </strong>Six subjects of a multi-generational French family affected by tremor and dystonia were studied. Each patient underwent a comprehensive clinical assessment and a whole-exome sequencing analysis.</p><p><strong>Results: </strong>All six subjects presented with early-onset prominent hand dystonic tremor and multifocal/generalized dystonia, secondarily developing mild cerebellar ataxia. The younger generation showed more pronounced cognitive and behavioral impairment. The known pathogenic TMEM240 c.509C>T (p.P170L) variant was found in heterozygosis in all subjects.</p><p><strong>Conclusions: </strong>Dystonic tremor can represent the core clinical feature of SCA21, even in absence of overt cerebellar ataxia. Therefore, TMEM240 pathogenic variants should be considered disease-causing in subjects displaying dystonic tremor, variably associated with ataxia, parkinsonism, neurodevelopmental disorders, and cognitive impairment.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350564","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":"Apomorphine Subcutaneous Infusion Likely Induced Acute Thrombocytopenia in a Patient with Parkinson's Disease and Motor Fluctuations.","authors":"Maria Magdalena Pocora, Micol Avenali, Michele Giovanni Croce, Federica Ferrari, Francesca Valentino, Claudio Pacchetti, Cristina Tassorelli, Roberta Zangaglia","doi":"10.1002/mdc3.14216","DOIUrl":"https://doi.org/10.1002/mdc3.14216","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350563","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":"Underutilization of Injectable Parkinson's Disease Medication: An Analysis of Neurologist and Patient Perspectives.","authors":"Gianni Solis, Jordan Patierno, Josh Rossol, Rajeev Kumar","doi":"10.1002/mdc3.14213","DOIUrl":"https://doi.org/10.1002/mdc3.14213","url":null,"abstract":"<p><strong>Background: </strong>We hypothesized that many neurologists underestimate patients' willingness to self-administer injectable Parkinson's disease (PD) medication.</p><p><strong>Objective: </strong>To evaluate patient and physician perceptions contributing to underutilization of PD medications for acute OFF episodes.</p><p><strong>Analytic method: </strong>Data were collected using an online survey including n = 4063 PD patients experiencing OFF episodes and n = 200 neurologists.</p><p><strong>Results: </strong>89% of patients were willing to self-inject rescue therapies to treat acute OFF episodes. After reviewing patient survey data, 54% of general neurologists and 37% of movement disorder specialist (MDS) demonstrated a change in perceptions about patients' willingness to use self-injected therapies (P < 0.05). 37% of general neurologists and 21% of MDS indicated a greater likelihood of prescribing these treatments (P < 0.05).</p><p><strong>Conclusions: </strong>Most patients suffering from OFF episodes would be willing to self-inject to abort their symptoms. Neurologists underestimate this patient acceptance. Understanding patient attitudes and further education about rescue therapies is likely to increase use of these therapies.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350565","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":"In-Home Remote Assessment of the MDS-UPDRS Part III: Multi-Cultural Development and Validation of a Guide for Patients.","authors":"Michelle H S Tosin, Alvaro Sanchez-Ferro, Ruey-Meei Wu, Beatriz G R B de Oliveira, Marco Antonio A Leite, Pablo Rábano Suárez, Christopher G Goetz, Pablo Martinez-Martin, Glenn T Stebbins, Tiago A Mestre","doi":"10.1002/mdc3.14203","DOIUrl":"https://doi.org/10.1002/mdc3.14203","url":null,"abstract":"<p><strong>Background: </strong>The shift toward virtualized care introduces challenges in assessing the motor severity of Parkinson's disease (PD). The Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) part III, the most used rating scale in PD, lacks validation for synchronous remote administration.</p><p><strong>Objective: </strong>Our goal was to validate the usability of a patient guide to allow an accurate video-based MDS-UDPRS part III remote examination.</p><p><strong>Methods: </strong>We conducted a multi-stage mixed methods study that included a team consensus for the concept of the guide, cognitive pretesting, and usability (system usability scale, [SUS]) testing in five sites (total n = 25 participants) with distinct linguistic and cultural contexts.</p><p><strong>Results: </strong>A multi-language (English, Portuguese, Spanish, and traditional Chinese) largely pictograph guide of the MDS-UPDRS part III remote examination reached benchmark for usability (SUS score ≥68) in 25 participants who completed the synchronous remote assessment.</p><p><strong>Conclusions: </strong>The MDS-UDPRS part III remote examination guide can be used remotely accurately, and facilitate clinical practice and research in a paradigm of telemedicine.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142291758","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":"Correction to \"Sex Differences in Dystonia\".","authors":"","doi":"10.1002/mdc3.14217","DOIUrl":"10.1002/mdc3.14217","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308173","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":"Cross-Sectional and Prospective Associations between Parkinsonism and Parkinson's Disease with Frailty in Latin America.","authors":"Dani J Kim, Nusrat Khan, Juan J Llibre-Rodriguez, Miao Jiang, Ana M Rodriguez-Salgado, Isaac Acosta, Ana Luisa Sosa, Daisy Acosta, Ivonne Z Jimenez-Velasquez, Mariella Guerra, Aquiles Salas, Nedelys Díaz Sánchez, Ricardo López-Contreras, Heike Hesse, Caroline Tanner, Jorge J Llibre-Guerra, Matthew Prina","doi":"10.1002/mdc3.14214","DOIUrl":"https://doi.org/10.1002/mdc3.14214","url":null,"abstract":"<p><strong>Background: </strong>Little is known about the relationship between parkinsonism or Parkinson's disease (PD) and frailty in Latin America.</p><p><strong>Objective: </strong>The study aimed to determine the cross-sectional and prospective associations between parkinsonism and PD with frailty in a large multi-country cohort in Latin America. Frailty was assessed using three different models to explore which definitions are more appropriate to screen for frailty in a PD population.</p><p><strong>Methods: </strong>12,865 older adults (aged ≥65 years) from the 10/66 population-based cohort study in six Latin American countries were analyzed. Logistic regression models assessed the cross-sectional association between parkinsonism/PD with baseline frailty. Individual country analyses were combined via fixed-effect meta-analysis. In non-frail participants who were followed up for 4 years, Cox proportional hazards regression models assessed the prospective association between parkinsonism/PD with incident frailty accounting for competing risk of mortality.</p><p><strong>Results: </strong>At baseline, the prevalence of parkinsonism and PD was 7% and 2%, respectively, and the prevalence of frailty varied across the three models with rates of 18% for frailty phenotype, 20% for frailty index and 30% for multidimensional frailty model. PD was associated with baseline and incident frailty after accounting for age, sex, and education: odds ratios and 95% confidence intervals (95% CI) for frailty were 2.49 (95% CIs 1.87-3.31), 2.42 (95% CIs 1.80-3.25), and 1.57 (95% CIs 1.16-2.21), and cause-specific hazard ratios were 1.66 (95% CIs 1.07-2.56), 1.78 (95% CIs 1.05-3.03), and 1.58 (95% CIs 0.91-2.74). Similar results were found for parkinsonism.</p><p><strong>Conclusion: </strong>Parkinsonism and PD were cross-sectionally and prospectively associated with frailty in Latin America. Routine screening for frailty in PD patients may aid earlier detection of those at greater risk of adverse outcomes.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142291754","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}