Movement Disorders最新文献

{"title":"Long-Term Outcomes on Pallidal Neurostimulation for Dystonia: A Controlled, Prospective 10-Year Follow-Up.","authors":"Patricia Krause, Philipp Mahlknecht, Inger Marie Skogseid, Frank Steigerwald, Günther Deuschl, Richard Erasmi, Alfons Schnitzler, Tobias Warnecke, Jörg Müller, Werner Poewe, Gerd-Helge Schneider, Jan Vesper, Nils Warneke, Wilhelm Eisner, Thomas Prokop, Jan-Uwe Müller, Jens Volkmann, Andrea A Kühn","doi":"10.1002/mds.30130","DOIUrl":"https://doi.org/10.1002/mds.30130","url":null,"abstract":"<p><strong>Background: </strong>Pallidal neurostimulation is an effective treatment for severe isolated dystonia, but long-term data from clinical trials are lacking.</p><p><strong>Objectives: </strong>To evaluate long-term efficacy and safety of pallidal neurostimulation in patients with isolated generalized or segmental dystonia.</p><p><strong>Methods: </strong>Extension study of the prospective multicenter trial (n = 40; July 2002 to May 2004), all patients received effective stimulation and underwent regular follow-up. The 10-year follow-up (n = 31) included Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor and disability score, Beck Depression Inventory, Beck Anxiety Inventory, and Mattis Dementia Rating Scale. Primary and secondary endpoints compared motor symptoms, disability scores, mood, and cognition changes.</p><p><strong>Results: </strong>Thirty-one patients (12 female), aged 23-72 years, completed the 10-year study extension. Per protocol analysis showed sustained significant improvement in BFMDRS motor scores at 10 years compared with baseline, without significant change from the 6-month or 5-year follow-up. On average, motor scores decreased by 25.3 ± 5.2 points at 10 years (P < 0.0001; 56% improvement). Individual outcomes varied, with 27 responders (≥25% improvement; mean improvement 65.2 ± 21.4%) and 13 non-responders compared with baseline. Sustained improvements were seen in disability, mood, and anxiety scores. Cognition remained stable.</p><p><strong>Conclusions: </strong>This study presents the longest prospective, multicenter follow-up of pallidal neurostimulation in generalized and segmental dystonia. Two-thirds of patients showed strong and stable long-term improvements of dystonia, confirming sustained efficacy and safety over 10 years in treatment-refractory dystonic patients. However, one-third experienced primary (3/40) or secondary (10/40) treatment failure. Diagnostic advances, including genetic testing, and technological progress in pallidal neurostimulation may help to reduce the non-responder rates in the future. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143187529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Addressing Methodological Variability and Enhancing Efficacy Assessment in Focused Ultrasound Thalamotomy for Parkinson's Tremor","authors":"Yinfang Wu MM,&nbsp;Weixing Xu MM","doi":"10.1002/mds.30136","DOIUrl":"10.1002/mds.30136","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"581-582"},"PeriodicalIF":7.4,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143121878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evidence of Involvement of the Calcitonin Gene‐Related Peptide in Restless Legs Syndrome","authors":"Maria P. Mogavero, Mojibola Fowowe, Akeem Sanni, Mona Goli, Giuseppe Lanza, Francesca L'Episcopo, Luigi Ferini‐Strambi, Yehia Mechref, Raffaele Ferri","doi":"10.1002/mds.30125","DOIUrl":"https://doi.org/10.1002/mds.30125","url":null,"abstract":"BackgroundRestless legs syndrome (RLS) is a common sensory‐motor disorder characterized by an urge to move the legs, often with unpleasant sensations, particularly during rest. Current treatments include iron supplementation, dopamine agonists, and opioids, but new therapeutic approaches are needed. The dysfunction of the A11 nucleus, which modulates dopaminergic transmission to the spinal cord, is thought to play a role in RLS pathophysiology. Calcitonin gene‐related peptide (CGRP), which is involved in pain modulation, may interact with A11 pathways, suggesting a role in RLS.ObjectivesThis study aimed to assess the involvement of CGRP in RLS by determining if CGRP‐related proteins are overexpressed in RLS patients.MethodsA cross‐sectional study was conducted with 17 drug‐free RLS patients (mean age 55.8 years) and 17 age‐ and gender‐matched controls. Serum samples were analyzed using liquid chromatography‐parallel reaction monitoring‐tandem mass spectrometry (LC‐PRM‐MS/MS) to identify and quantify CGRP‐related proteins. Principal component analysis (PCA) was used to differentiate between groups.ResultsPCA showed clear differentiation between RLS and control groups. Among 13 identified CGRP‐related proteins, 10 were dysregulated in RLS patients: 8 were upregulated, and 2 were downregulated, among them notable proteins such as S100A12, ADM, SRSF6, and ADM2.ConclusionsThis study indicates the significant involvement of CGRP and related proteins in RLS. This suggests these proteins may play roles in various aspects of the disorder. Further research is required to validate these findings and explore their clinical implications, including development of new treatment options that specifically address CGRP pathways. © 2025 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"45 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143056236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optic Disc Pallor in Parkinson's Disease: A UK Biobank Study.","authors":"Samuel Gibbon, David P Breen, Thomas J MacGillivray","doi":"10.1002/mds.30127","DOIUrl":"https://doi.org/10.1002/mds.30127","url":null,"abstract":"<p><strong>Background: </strong>Recent studies have suggested that retinal changes measured with optical coherence tomography are detectable in early Parkinson's disease (PD), highlighting the potential of ophthalmic biomarkers for diagnosis and monitoring.</p><p><strong>Objective: </strong>We set out to investigate the relationship between optic disc pallor measured in fundoscopy images and both prevalent and incident PD.</p><p><strong>Methods: </strong>We analyzed color fundus photographs from 787 UK Biobank participants: 89 with prevalent PD, 317 with incident PD, and 381 age- and sex-matched controls. Optic disc pallor in several zones was quantified using semi-automated software. We used logistic and linear regression, adjusted for relevant covariates, to test for associations between disc pallor and PD status and duration.</p><p><strong>Results: </strong>Participants with prevalent PD had significantly paler optic discs globally (OR per standard deviation [SD] increase = 1.39 [CI: 1.08-1.81], P = 0.012) and across several zones compared to controls. Each year since PD diagnosis was associated with a 1.37 SD increase in global pallor (standardized β = 1.37 [SE = 0.61], P = 0.029), and a similar increase across several zones, however, this finding was sensitive to outliers with long disease duration. No significant associations were observed for the incident PD group.</p><p><strong>Conclusions: </strong>Optic disc pallor is significantly associated with PD and may become more pronounced with disease duration. This suggests that optic disc pallor, measured in routinely taken color fundus photographs, may serve as a biomarker for PD-related neurodegeneration. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143062786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered Intra‐ and Inter‐Network Resting‐State Functional Connectivity is Associated with Neuropsychological Functioning and Clinical Symptoms in Patients with Isolated Rapid Eye Movement Sleep Behavior Disorder","authors":"Ignacio Roura, Jèssica Pardo, Cristina Martín‐Barceló, Javier Oltra, Anna Campabadal, Roser Sala‐Llonch, Núria Bargalló, Mònica Serradell, Claustre Pont‐Sunyer, Carles Gaig, Gerard Mayà, Angelica Montini, Carme Junqué, Alex Iranzo, Bàrbara Segura","doi":"10.1002/mds.30126","DOIUrl":"https://doi.org/10.1002/mds.30126","url":null,"abstract":"BackgroundIsolated rapid‐eye movement (REM) sleep behavior disorder (iRBD) is characterized by abnormal behaviors in REM sleep and is considered as a prodromal symptom of alpha‐synucleinopathies. Resting‐state functional magnetic resonance imaging (rsfMRI) studies have unveiled altered functional connectivity (rsFC) in patients with iRBD. However, the associations between intra‐ and inter‐network rsFC with clinical symptoms and neuropsychological functioning in iRBD remain unclear.ObjectiveTo characterize intra‐ and inter‐network rsFC in iRBD patients using a data‐driven approach and to assess its associations with clinical features and cognitive functioning.MethodsForty‐two patients with iRBD and 45 healthy controls (HC) underwent rsfMRI and comprehensive neuropsychological testing. Resting‐state networks were characterized using independent component analyses. Group differences in intra‐ and inter‐network rsFC and their associations with clinical and neuropsychological data were studied. A threshold of corrected <jats:italic>P</jats:italic> &lt; 0.05 was used in all the analyses.ResultsiRBD patients displayed lower intra‐network rsFC within basal ganglia, visual, sensorimotor, and cerebellar networks, relative to HC. Mean rsFC strength within the basal ganglia network positively correlated with processing speed and negatively with the non‐motor symptoms in iRBD patients. Reduced inter‐network rsFC between sensorimotor and visual medial networks was observed in iRBD patients, which was associated with global cognitive status.ConclusionsiRBD is characterized by both reductions in intra‐network rsFC in cortical and subcortical networks and inter‐network dysconnectivity between sensorimotor and visual networks. Abnormalities in intra‐ and inter‐network rsFC are associated with cognitive performance and non‐motor symptoms, suggesting the utility of both rsFC measures as imaging markers in prodromal alpha‐synucleinopathies. © 2025 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"22 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143056242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Age as a New Measure of Disease Stratification in Huntington's Disease","authors":"Pubu M. Abeyasinghe, James H. Cole, Adeel Razi, Govinda R. Poudel, Jane S. Paulsen, Sarah J. Tabrizi, Jeffrey D. Long, Nellie Georgiou‐Karistianis","doi":"10.1002/mds.30109","DOIUrl":"https://doi.org/10.1002/mds.30109","url":null,"abstract":"BackgroundDespite advancements in understanding Huntington's disease (HD) over the past two decades, absence of disease‐modifying treatments remains a challenge. Accurately characterizing progression states is crucial for developing effective therapeutic interventions. Various factors contribute to this challenge, including the need for precise methods that can account for the complex nature of HD progression.ObjectiveThis study aims to address this gap by leveraging the concept of the brain's biological age as a foundation for a data‐driven clustering method to delineate various states of progression. Brain‐predicted age, influenced by somatic expansion and its impact on brain volumes, offers a promising avenue for stratification by stratifying subgroups and determining the optimal timing for interventions.MethodsTo achieve this, data from 953 participants across diverse cohorts, including PREDICT‐HD, TRACK‐HD, and IMAGE‐HD, were meticulously analyzed. Brain‐predicted age was computed using sophisticated algorithms, and participants were categorized into four groups based on CAG and age product score. Unsupervised k‐means clustering with brain‐predicted age difference (brain‐PAD) was then employed to identify distinct progression states.ResultsThe analysis revealed significant disparities in brain‐predicted age between HD participants and controls, with these differences becoming more pronounced as the disease progressed. Brain‐PAD demonstrated a correlation with disease severity, effectively identifying five distinct progression states characterized by significant longitudinal disparities.ConclusionsThese findings highlight the potential of brain‐PAD in capturing HD progression states, thereby enhancing prognostic methodologies and providing valuable insights for future clinical trial designs and interventions. © 2025 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"7 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143056244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases","authors":"Umar Zubair, Habibah A.P. Agianda, Kathryn Yang, Amy Tam, Joshua Rong, Carolina Gorodetsky, Shekeeb S. Mohammad, Juan Darío Ortigoza‐Escobar, Darius Ebrahimi‐Fakhari","doi":"10.1002/mds.30131","DOIUrl":"https://doi.org/10.1002/mds.30131","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"35 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prasinezumab: A Bayesian Perspective on Its Efficacy.","authors":"Mirella Russo, Tommaso Costa, Dario Calisi, Stefano L Sensi","doi":"10.1002/mds.30129","DOIUrl":"https://doi.org/10.1002/mds.30129","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two London Memorials to “James Parkinson [1755–1824], Esq. Surgeon, Late of Hoxton-Square”","authors":"Nadeem Toodayan MBBS,&nbsp;Andrew J. Lees MD, FMedSci","doi":"10.1002/mds.30115","DOIUrl":"10.1002/mds.30115","url":null,"abstract":"<p>Of all London memorials commemorating historical medical personalities, none perhaps have been so frequented by neurologists as those honoring James Parkinson (1755–1824) of Hoxton square. Situated in the historical London borough of Hackney, there are two well-known memorials to James Parkinson that can still be easily visited: The first, a large, inscribed marble memorial tablet at St Leonard's Church that Parkinson was closely affiliated with throughout life; the second, a historical blue plaque marking the site of Parkinson's birthplace and former home practice at 1 Hoxton Square. Although many contemporary neurologists would freely recall the historical significance of these locations, very few now living can detail the circumstances leading up to these memorials being erected. A new look at rediscovered primary resources provides considerable insight into the history of these monuments dedicated to James Parkinson. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"438-442"},"PeriodicalIF":7.4,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143031131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder","authors":"Emilie T. Théberge MSc,&nbsp;Kate Durbano MD,&nbsp;Diane Demailly MD,&nbsp;Sophie Huby MD,&nbsp;Aleksandra Mitina PhD,&nbsp;Yue Yin MSc,&nbsp;Arezoo Mohajeri MSc,&nbsp;Care4Rare Canada Consortium,&nbsp;Clara van Karnebeek MD, PhD,&nbsp;Gabriella A. Horvath MD, PhD,&nbsp;Ryan K.C. Yuen PhD,&nbsp;Karen Usdin PhD,&nbsp;Anna Lehman MD,&nbsp;Laura Cif MD, PhD,&nbsp;Phillip A. Richmond PhD","doi":"10.1002/mds.30101","DOIUrl":"10.1002/mds.30101","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype–phenotype associations and provide a diagnosis for patients and families.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A family of 2 affected brothers and unaffected parents had extensive phenotyping since birth. Whole-genome and long-read sequencing methods characterized genetic variants and methylation status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two male siblings with a CGG repeat expansion in the 5′-untranslated region (UTR) of disco-interacting protein 2 homolog B (<i>DIP2B</i>) presented with a novel <i>DIP2B</i> phenotype, including neurodevelopmental disability, dysmorphic traits, and a severe progressive movement disorder (chorea, dystonia, and ataxia).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first report of a severe progressive movement disorder phenotype associated with a CGG repeat expansion in the <i>DIP2B</i> 5′-UTR. © 2025 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"567-578"},"PeriodicalIF":7.4,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143031819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}