Laura Santos Sánchez de Las Matas, Carlos Ordás, Berta Almoguera, Fermina López Grondona, Agustín Querejeta Coma
{"title":"Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A Variant.","authors":"Laura Santos Sánchez de Las Matas, Carlos Ordás, Berta Almoguera, Fermina López Grondona, Agustín Querejeta Coma","doi":"10.1002/mdc3.70013","DOIUrl":"https://doi.org/10.1002/mdc3.70013","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449592","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}
Victor S Hvingelby, Pernille Kjeldsen, Bo Bergholt, Gaston Andres Schechtmann, Erik Hvid Danielsen, Mette Møller, Erik Lisbjerg Johnsen, Skirmante Mardosiene, Torben Ellegaard Lund, Dora Grauballe, Michael Geneser, Tina Vincens Sørensen, Lisa Østergaard Bak, Martin Andreasen, Anne Sofie Møller Andersen, Lone Andersen, Kaare Meier, Niels Juhl, Alp Tankisi, Bo Jespersen, Christian Fenger Eriksen, Mads Rasmussen, Winnie Bechmann Eriksen, Birgitte Barrutia, Mette Kromann, Ida Baandrup, Jette Bjørn, Rie Stjernholm, Charlotte Bræmer-Madsen, Signe Mygdal Jørgensen, Jens Christian Hedemann Sørensen, Andreas Nørgaard Glud
{"title":"Magnetic Resonance-Guided Focused Ultrasound Treatment for Essential Tremor: A Single-Center Experience.","authors":"Victor S Hvingelby, Pernille Kjeldsen, Bo Bergholt, Gaston Andres Schechtmann, Erik Hvid Danielsen, Mette Møller, Erik Lisbjerg Johnsen, Skirmante Mardosiene, Torben Ellegaard Lund, Dora Grauballe, Michael Geneser, Tina Vincens Sørensen, Lisa Østergaard Bak, Martin Andreasen, Anne Sofie Møller Andersen, Lone Andersen, Kaare Meier, Niels Juhl, Alp Tankisi, Bo Jespersen, Christian Fenger Eriksen, Mads Rasmussen, Winnie Bechmann Eriksen, Birgitte Barrutia, Mette Kromann, Ida Baandrup, Jette Bjørn, Rie Stjernholm, Charlotte Bræmer-Madsen, Signe Mygdal Jørgensen, Jens Christian Hedemann Sørensen, Andreas Nørgaard Glud","doi":"10.1002/mdc3.70012","DOIUrl":"https://doi.org/10.1002/mdc3.70012","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor is the most common hyperkinetic movement disorder. Magnetic resonance imaging-guided focused ultrasound (MRgFUS) has emerged as second-line therapy.</p><p><strong>Objective: </strong>The aim was to obtain the results of the first 108 patients treated with MRgFUS in Denmark.</p><p><strong>Methods: </strong>Data were entered in a quality assurance database at baseline and 3, 6, and 12 months. Clinician- and patient-rated treatment efficacy was evaluated using the Fahn-Marin-Tolosa (FMT) scale and the Patient Global Impression of Change.</p><p><strong>Results: </strong>A total of 108 persons have currently been treated. Tremor improved by a total mean 6.39 points (95% confidence interval [CI]: 5.01;7.76, P < 0.00001) and 9.63 points (95% CI: 7.60;11.66, P < 0.00001), 10.42 (95% CI: 9.06;11.79, P < 0.00001), and 26.45 (95% CI: 22.46;30.43, P < 0.00001) for FMT parts A, B, and C, respectively, at 3 months. Side effects occurred in 65.7% of patients at 3 months and 33.7% at 12 months.</p><p><strong>Conclusion: </strong>Our findings are in line with existing evidence. Questions regarding persistence of gait- and balance-related side effects remain.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449603","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}
Joaquim J Ferreira, Werner Poewe, José-Francisco Rocha, Olivier Rascol
{"title":"Opicapone to Treat Early Wearing-off in Parkinson's Disease Patients: The European Experience.","authors":"Joaquim J Ferreira, Werner Poewe, José-Francisco Rocha, Olivier Rascol","doi":"10.1002/mdc3.70016","DOIUrl":"https://doi.org/10.1002/mdc3.70016","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449612","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}
Arjun Balachandar, Talyta Cortez Grippe, Wei Kang Lim, Irene A Malaty, Anthony E Lang, Christos Ganos
{"title":"Misophonia in Tic Disorders and Their Neuropsychiatric Associations.","authors":"Arjun Balachandar, Talyta Cortez Grippe, Wei Kang Lim, Irene A Malaty, Anthony E Lang, Christos Ganos","doi":"10.1002/mdc3.70017","DOIUrl":"https://doi.org/10.1002/mdc3.70017","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449608","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":"Decision-making trends in therapeutic interventions for multiple system atrophy: a 24-year retrospective study.","authors":"Katsuya Nishida, Kento Sakashita, Naonobu Futamura","doi":"10.1002/mdc3.70000","DOIUrl":"https://doi.org/10.1002/mdc3.70000","url":null,"abstract":"<p><strong>Background: </strong>Managing multiple system atrophy (MSA) is challenging. While invasive interventions for amyotrophic lateral sclerosis are well-studied, those for MSA remain less explored.</p><p><strong>Objectives: </strong>To explore factors influencing treatment choices and trends in advanced-stage MSA.</p><p><strong>Methods: </strong>A retrospective cohort study analyzed 128 MSA patients at Hyogo Chuo National Hospital, Japan, from 2000 to 2024, focusing on treatment period and age at onset.</p><p><strong>Results: </strong>Tracheostomy invasive ventilation (TIV) decreased after 2014 (26.9% vs. 9.2%; P = 0.023). TIV-treated patients remained similarly young before and after 2014 (age at onset 52.7 vs. 54.5 years; P = 0.659) and tracheostomy was chosen by younger patients after 2014 (58.3 vs. 51.5 years; P < 0.001). Conversely, enteral nutrition increased in older patients (57.4 vs. 62.9 years; P = 0.011).</p><p><strong>Conclusions: </strong>In Japanese MSA, preferences for invasive treatments shifted, with younger patients favoring TIV and tracheostomy, while older patients preferred less invasive options, emphasizing personalized care.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425836","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}
Victor S C Fung, Kailash P Bhatia, David J Burn, Christopher G Goetz, Mark Hallett, Joseph Jankovic, Karl Kieburtz, Christine Klein, Jeffrey H Kordower, Anthony E Lang, Marcelo Merello, Matthew B Stern, A Jon Stoessl, Philip D Thompson
{"title":"In Memoriam C. Warren Olanow (1941-2024).","authors":"Victor S C Fung, Kailash P Bhatia, David J Burn, Christopher G Goetz, Mark Hallett, Joseph Jankovic, Karl Kieburtz, Christine Klein, Jeffrey H Kordower, Anthony E Lang, Marcelo Merello, Matthew B Stern, A Jon Stoessl, Philip D Thompson","doi":"10.1002/mdc3.14351","DOIUrl":"https://doi.org/10.1002/mdc3.14351","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143409284","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}
Joana Damásio, Sara Costa, João Moura, Mariana Santos, Carolina Lemos, Alexandre Mendes, Jorge Oliveira, José Barros, Jorge Sequeiros
{"title":"Movement Disorders in Hereditary Cerebellar Ataxia.","authors":"Joana Damásio, Sara Costa, João Moura, Mariana Santos, Carolina Lemos, Alexandre Mendes, Jorge Oliveira, José Barros, Jorge Sequeiros","doi":"10.1002/mdc3.14358","DOIUrl":"https://doi.org/10.1002/mdc3.14358","url":null,"abstract":"<p><strong>Background: </strong>Hereditary cerebellar ataxia (HCA) represents a complex group of disorders, with a wide spectrum of neurological symptoms. Among these, non-ataxia movement disorders (MD) have been increasingly acknowledged, with variable frequency across different forms.</p><p><strong>Objectives: </strong>To characterize the type and frequency of MD in patients with HCA. To identify factors associated with MD and analyze their impact on disability.</p><p><strong>Methods: </strong>We conducted a prospective study starting in 2017, with annual visits according to a structured protocol. Patients were selected from the study database and their clinical and genetic features analyzed.</p><p><strong>Results: </strong>The cohort comprised 193 symptomatic patients. Machado-Joseph disease (MJD, also SCA3 or ATX-ATXN3) and cerebellar ataxia, neuropathy and vestibular areflexia syndrome (ATX-RFC1) were the most common autosomal dominant (AD) or recessive forms, with a frequency of 14.0% and 15.0%, respectively. MD were present in 95 (54.4%), with dystonia being the most common (49.2%). Tremor was identified in 10.9%, Parkinsonism in 4.1% and chorea in 3.6% patients. Myoclonus and tics were rare (2.6% and 0.5%). The presence of MD was associated with AD inheritance and ATXN3. MD, regardless of type, correlated with higher SARA score at baseline, increased fall frequency, confinement to wheelchair, and earlier occurrence of falls and of permanent use of walking aid.</p><p><strong>Conclusions: </strong>Movement disorders, particularly dystonia, were common in our cohort. This highlights the possible role of the cerebellum in MD, but also extra-cerebellar involvement in some HCA. Presence of MD significantly worsened motor disability, highlighting the need for strategies of early identification and tailored management.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399707","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}
Simone D'Souza, Esther Tekampe, Marco Skardelly, Stephan Zipfel, Martin Teufel, Björn Falkenburger
{"title":"Equal Distress and Less Hope in Parkinson's Disease Patients Compared to Brain Tumors Patients.","authors":"Simone D'Souza, Esther Tekampe, Marco Skardelly, Stephan Zipfel, Martin Teufel, Björn Falkenburger","doi":"10.1002/mdc3.14355","DOIUrl":"https://doi.org/10.1002/mdc3.14355","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399704","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}