Karlo J Lizarraga, Bhairavei Gnanamanogaran, Tameem M Al-Ozzi, Melanie Cohn, George Tomlinson, Alexandre Boutet, Gavin J B Elias, Jürgen Germann, Derrick Soh, Suneil K Kalia, Mojgan Hodaie, Renato P Munhoz, Connie Marras, William D Hutchison, Andres M Lozano, Anthony E Lang, Alfonso Fasano
{"title":"Lateralized Subthalamic Stimulation for Axial Dysfunction in Parkinson's Disease: Exploratory Outcomes and Open-Label Extension.","authors":"Karlo J Lizarraga, Bhairavei Gnanamanogaran, Tameem M Al-Ozzi, Melanie Cohn, George Tomlinson, Alexandre Boutet, Gavin J B Elias, Jürgen Germann, Derrick Soh, Suneil K Kalia, Mojgan Hodaie, Renato P Munhoz, Connie Marras, William D Hutchison, Andres M Lozano, Anthony E Lang, Alfonso Fasano","doi":"10.1002/mdc3.14188","DOIUrl":"10.1002/mdc3.14188","url":null,"abstract":"<p><strong>Background: </strong>A randomized trial suggested that reducing left-sided subthalamic stimulation amplitude could improve axial dysfunction.</p><p><strong>Objectives: </strong>To explore open-label tolerability and associations between trial outcomes and asymmetry data.</p><p><strong>Methods: </strong>We collected adverse events in trial participants treated with open-label lateralized settings for ≥3 months. We explored associations between trial outcomes, location of stimulation and motor asymmetry.</p><p><strong>Results: </strong>14/17 participants tolerated unilateral amplitude reduction (left-sided = 10, right-sided = 4). Two hundred eighty-four left-sided and 1113 right-sided stimulated voxels were associated with faster gait velocity, 81 left-sided and 22 right-sided stimulated voxels were associated with slower gait velocity. Amplitude reduction contralateral to shorter step length was associated with 2.4-point reduction in axial MDS-UPDRS. Reduction contralateral to longer step length was associated with 10-point increase in MDS-UPDRS.</p><p><strong>Conclusions: </strong>Left-sided amplitude reduction is potentially more tolerable than right-sided amplitude reduction. Right-sided more than left-sided stimulation could be associated with faster gait velocity. Shortened step length might reflect contralateral overstimulation.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1421-1426"},"PeriodicalIF":2.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971501","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}
Sanem Yilmaz, Jennifer Vermilion, Shannon Dean, Roxanna Pourdeyhimi, Jonathan W Mink
{"title":"Inter-rater Agreement for Movement Disorder Classification in Children with Hyperkinetic Movement Disorders.","authors":"Sanem Yilmaz, Jennifer Vermilion, Shannon Dean, Roxanna Pourdeyhimi, Jonathan W Mink","doi":"10.1002/mdc3.14252","DOIUrl":"https://doi.org/10.1002/mdc3.14252","url":null,"abstract":"<p><strong>Background: </strong>Accurate classification is essential for addressing childhood movement disorders (MD), but the common coexistence of multiple MDs complicates this process.</p><p><strong>Objective: </strong>The aim was to assess inter-rater agreement on classifying hyperkinetic MDs among pediatric neurologists with expertise in MDs.</p><p><strong>Methods: </strong>Five pediatric neurologists were requested to examine 112 videos of 66 pediatric patients. Based on the Movement Disorder-Childhood Rating Scale, 3 queries were posed: (Q1) Is there more than 1 MD? (Q2) What is the (predominant) MD? (Q3) What is the other MD (if present)?</p><p><strong>Results: </strong>The final agreement rates were 57.5% for Q1, 66.6% for Q2, and 43.9% for absolute agreement. All videos with absolute agreement at the first evaluation featured 1 MD, whereas only 2 videos with multiple MDs could totally agree in the final review.</p><p><strong>Conclusions: </strong>This study reveals significant discordance in classification even among pediatric neurologists with expertise in MDs and highlights the necessity for a standardized approach.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504562","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}
Tiago Soares, Thiago Cardoso Vale, Leonor Correia Guedes, Ricardo Oliveira Maciel, Ana Patrícia Antunes, Sarah Camargos, Anabela Valadas, Miguel Coelho, Catarina Godinho, Débora Maia, Patrícia Lobo, Raphael Maia, Tiago Teodoro, Carlos Rieder, Ana Graça Velon, Maria José Rosas, Ana Calado, Verónica Caniça, José Vale, Alexandre Mendes, Ana Margarida Rodrigues, Maria Manuela Costa, Tânia Lampreia, Henrique B Ferraz, Vitor Tumas, Egberto Barbosa, Glenn T Stebbins, Barbara C Tilley, Sheng Luo, Nancy R LaPelle, Christopher G Goetz, Francisco Cardoso, Joaquim J Ferreira
{"title":"Validation of the Portuguese MDS-UPDRS: Challenges to Obtain a Scale Applicable to Different Linguistic Cultures.","authors":"Tiago Soares, Thiago Cardoso Vale, Leonor Correia Guedes, Ricardo Oliveira Maciel, Ana Patrícia Antunes, Sarah Camargos, Anabela Valadas, Miguel Coelho, Catarina Godinho, Débora Maia, Patrícia Lobo, Raphael Maia, Tiago Teodoro, Carlos Rieder, Ana Graça Velon, Maria José Rosas, Ana Calado, Verónica Caniça, José Vale, Alexandre Mendes, Ana Margarida Rodrigues, Maria Manuela Costa, Tânia Lampreia, Henrique B Ferraz, Vitor Tumas, Egberto Barbosa, Glenn T Stebbins, Barbara C Tilley, Sheng Luo, Nancy R LaPelle, Christopher G Goetz, Francisco Cardoso, Joaquim J Ferreira","doi":"10.1002/mdc3.14236","DOIUrl":"https://doi.org/10.1002/mdc3.14236","url":null,"abstract":"<p><strong>Background: </strong>The MDS-UPDRS has been available in English since 2008, showing satisfactory clinimetric results and being proposed as the new official benchmark scale for Parkinson's disease (PD), being cited as a core instrument for PD in the National Institutes of Neurological Disorders and Stroke Common Data Elements program. For this reason, the MDS created guidelines for development of MDS-UPDRS official, clinimetrically validated translations.</p><p><strong>Objective: </strong>This study presents the formal process used to obtain the officially approved Portuguese version of the MDS-UPDRS.</p><p><strong>Methods: </strong>The study consisted of three phases: (1) Independent translation by Portuguese and Brazilian teams followed by a challenging consensus process that this article particularly emphasizes; (2) Cognitive pretest involving raters and patients from both Portugal and Brazil; (3) Validation test with a sample of 367 native Portuguese-speaking PD patients.</p><p><strong>Results: </strong>The overall factor structure of the Portuguese version was consistent with the English version based on a comparative fit index ≥0.96 for all four parts of the MDS-UPDRS.</p><p><strong>Conclusion: </strong>This version can be designated as the official Portuguese version of the MDS-UPDRS.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504567","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}
Luca Magistrelli, Elena Contaldi, Sandra D'Alfonso, Lucia Corrado
{"title":"Myoclonus-Dystonia plus Syndrome in a Patient Carrying a Novel TCF20 Variant.","authors":"Luca Magistrelli, Elena Contaldi, Sandra D'Alfonso, Lucia Corrado","doi":"10.1002/mdc3.14241","DOIUrl":"https://doi.org/10.1002/mdc3.14241","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504563","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}
Rohan Jha, Aryan Wadhwa, Melissa M J Chua, G Rees Cosgrove, John D Rolston
{"title":"Tremor Severity and Operative Parameters Predict Imbalance in Patients Undergoing Focused Ultrasound Thalamotomy.","authors":"Rohan Jha, Aryan Wadhwa, Melissa M J Chua, G Rees Cosgrove, John D Rolston","doi":"10.1002/mdc3.14237","DOIUrl":"https://doi.org/10.1002/mdc3.14237","url":null,"abstract":"<p><strong>Background: </strong>Imbalance is the most commonly reported side effect following focused ultrasound (FUS) thalamotomy for essential tremor (ET). It remains unknown which patients are more likely to develop imbalance following FUS treatment.</p><p><strong>Objective: </strong>To identify preoperative and treatment-related sonication parameters that are predictive of imbalance following FUS treatment.</p><p><strong>Methods: </strong>We retrospectively collected demographic data, preoperative Fahn-Tolosa-Marin Clinical Rating Scale for Tremor (FTM) scores and FUS treatment parameters in patients undergoing FUS thalamotomy for treatment of ET. The presence of imbalance was evaluated at several discrete time-points with up to 4 years of follow-up. Multiple machine learning classifiers were built and evaluated, aiming to maximize accuracy while minimizing feature set.</p><p><strong>Results: </strong>Of the 297 patients identified, the presence of imbalance peaked at 1 week following operation at 79%. This declined rapidly with 29% reporting imbalance at 3 months, and only 15% at 4 years. At 1 week, total preoperative FTM scores and Maximum Energy delivered in FUS could predict the presence of imbalance at 92.8% accuracy. At 3 months, the total preoperative FTM scores and maximum power delivered could predict the presence of imbalance with 90.6% accuracy. Post-operative lesion size and extent into thalamic nuclei, internal capsule, and subthalamic regions were identified as likely key underlying drivers of these predictors.</p><p><strong>Conclusions: </strong>A machine learning model based on preoperative tremor scores and maximum energy/power delivered predicted the development of short-term imbalance and long-term imbalance following FUS thalamotomy.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504566","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}
Carlo Fazio, Simone Regalbuto, Sebastiano Arceri, Davide Comolli, Alessandra Calculli, Piergiorgio Grillo, Giuseppe Cosentino, Liliana Brambilla, Daniela Rossi, Antonio Pisani
{"title":"Increased Cerebrospinal Fluid Biomarkers of Neurodegeneration in Acquired Progressive Ataxia and Palatal Tremor Following a Static Lesion: A Case Report.","authors":"Carlo Fazio, Simone Regalbuto, Sebastiano Arceri, Davide Comolli, Alessandra Calculli, Piergiorgio Grillo, Giuseppe Cosentino, Liliana Brambilla, Daniela Rossi, Antonio Pisani","doi":"10.1002/mdc3.14247","DOIUrl":"https://doi.org/10.1002/mdc3.14247","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504561","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":"Sink or Swim: Using Remote Programming to Manage a Very Australian Problem.","authors":"Izyan Mohd Helmi, Alexander Lehn","doi":"10.1002/mdc3.14238","DOIUrl":"https://doi.org/10.1002/mdc3.14238","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504565","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}
Luigi M Romito, Fabiana Colucci, Valentina Leta, Celeste Panteghini, Roberta Telese, Gianluca Tolva, Roberta Villa, Antonio E Elia, Roberto Eleopra, Angela Peron, Barbara Garavaglia, Maria Iascone
{"title":"Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.","authors":"Luigi M Romito, Fabiana Colucci, Valentina Leta, Celeste Panteghini, Roberta Telese, Gianluca Tolva, Roberta Villa, Antonio E Elia, Roberto Eleopra, Angela Peron, Barbara Garavaglia, Maria Iascone","doi":"10.1002/mdc3.14246","DOIUrl":"https://doi.org/10.1002/mdc3.14246","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504558","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}