Movement disorders : official journal of the Movement Disorder Society最新文献

{"title":"Single-Interval and Rhythmic Temporal Prediction in Cervical Dystonia.","authors":"Sara Terranova, Alessandro Botta, Martina Putzolu, Gaia Bonassi, Carola Cosentino, Susanna Mezzarobba, Elisa Ravizzotti, Giovanna Lagravinese, Elisa Pelosin, Francesca Di Biasio, Roberta Marchese, Laura Avanzino","doi":"10.1002/mds.30260","DOIUrl":"https://doi.org/10.1002/mds.30260","url":null,"abstract":"<p><strong>Background: </strong>Cerebellar dysfunction disrupts memory-based temporal predictions (TPs), whereas basal ganglia dysfunction affects rhythm-based TPs. Investigating TPs in cervical dystonia (CD) may help to delineate the contributions of subcortical circuits to CD pathophysiology.</p><p><strong>Objective: </strong>The aim of this study was to explore TP ability in patients with CD compared with healthy control subjects (HCs) and to examine the relationship between TPs and clinical features of CD.</p><p><strong>Methods: </strong>Twenty patients with CD and 20 HCs completed a TP task. Reaction times (RTs) were measured during TPs under three conditions: rhythmic and single-interval (predictable target onset) and random (unpredictable target onset). RT benefit scores were calculated by subtracting RTs in the random condition from those in predictive conditions.</p><p><strong>Results: </strong>Our exploratory analysis showed that patients with CD had lower benefit scores than HCs in the single-interval task. In CD, benefit scores in the single-interval task were negatively correlated with Toronto Western Spasmodic Torticollis Rating Scales severity.</p><p><strong>Conclusions: </strong>Patients with CD exhibited selective impairments in interval-based predictions, suggesting cerebellar involvement in dystonia's pathophysiology. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144236750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plastamination: A Rising Concern for Parkinson's Disease.","authors":"Roberto Erro, Cristiano Sorrentino, Paolo Barone","doi":"10.1002/mds.30253","DOIUrl":"https://doi.org/10.1002/mds.30253","url":null,"abstract":"","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decade-Long Prodrome on Neuroimaging: Unique Insight into Probable Corticobasal Degeneration.","authors":"Xin You Tai, Pieter M Pretorius, George K Tofaris","doi":"10.1002/mds.30245","DOIUrl":"https://doi.org/10.1002/mds.30245","url":null,"abstract":"","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease.","authors":"Yu Liao, Hao Wu, Junhao Wang, Jean-Christophe Corvol, Jodi Maple-Grødem, Meghan C Campbell, Alexis Elbaz, Alexis Brice, Michael A Schwarzschild, Pille Taba, Sulev Kõks, Thomas G Beach, Guido Alves, Ole-Bjørn Tysnes, Joel S Perlmutter, Baijayanta Maiti, Jacobus J van Hilten, Roger A Barker, Caroline H Williams-Gray, Clemens R Scherzer, Ganqiang Liu","doi":"10.1002/mds.30252","DOIUrl":"https://doi.org/10.1002/mds.30252","url":null,"abstract":"<p><strong>Background: </strong>Genetic variants on the X chromosome have been linked to susceptibility for Parkinson's disease (PD), but their roles in disease progression remain unclear.</p><p><strong>Objectives: </strong>This study investigated associations between X chromosome variants and longitudinal cognitive decline or motor impairment in patients with PD.</p><p><strong>Methods: </strong>We conducted combined (male + female) and stratified X-chromosome-wide survival studies (XWSS) in 4467 patients with PD with 33,406 longitudinal visits. Cognitive decline was defined as global cognitive impairment (GCI, Mini Mental State Exam score ≤25), whereas motor impairment was evaluated by Hoehn and Yahr stage 3 (HY3). Expression quantitative trait locus (eQTL) and genetic colocalization analyses were systematically performed.</p><p><strong>Results: </strong>We identified 40 common variants in the X-chromosome-wide screen associated with longitudinal progression of PD with P-value <9.27 × 10^-6, including 11 independent loci associated with cognitive decline and two with motor impairment. The rs142724191 and rs144112368 variants were associated with cognitive decline in both combined and male-only analyses. rs111708875 reached genome-wide significance for motor progression in female cases (hazard ratio [HR] = 3.98, 95% confidence interval [CI]:  2.54-6.25) with P-value = 1.84 × 10^-9. All these variants were independent with X chromosome susceptibility loci associated with PD, Alzheimer's disease, or Lewy body dementia.</p><p><strong>Conclusions: </strong>Our XWSS identified novel genetic progression-associated loci on the X chromosome for PD, providing new insights into the X chromosome-linked genetic underpinnings of PD. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.","authors":"Paula Saffie-Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Zachary B Anderson, Mariam Isayan, Kimberly Paquette, Sophia B Gibson, Madison Fulcher, Abigail Miano-Burkhardt, Laksh Malik, Breeana Baker, Paige Jarreau, Henry Houlden, Mina Ryten, Bida Gu, Mark J P Chaisson, Danny E Miller, Pedro Chaná-Cuevas, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley","doi":"10.1002/mds.30242","DOIUrl":"10.1002/mds.30242","url":null,"abstract":"<p><strong>Background: </strong>Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.</p><p><strong>Objective: </strong>Uncover the genetic etiology of suspected hereditary movement disorders.</p><p><strong>Methods: </strong>We performed Oxford Nanopore long-read genome sequencing on 15 individuals with suspected hereditary movement disorders. Using variant calling and ancestry inference tools.</p><p><strong>Results: </strong>We identified ZFHX3 GGC expansions (47-55 repeats) in 4 patients with progressive ataxia, polyneuropathy, and vermis atrophy. One presented with rapidly progressive parkinsonism-ataxia, expanding the known phenotype. Longer expansions correlated with earlier onset and severity. All carriers shared single nucleotide variants (SNVs) associated with the Swedish founder haplotype, and methylation analysis confirmed allele-specific hypermethylation.</p><p><strong>Conclusion: </strong>These represent the first SCA4 cases identified outside Northern Europe. Our findings highlight the value of long-read sequencing in resolving undiagnosed movement disorders. Published 2025. This article is a U.S. Government work and is in the public domain in the USA. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Normal [¹⁸F]FE-PE2I PET in Patients with Persistent Diagnostic Uncertainty after Abnormal [¹²³I]FP-CIT SPECT.","authors":"Michiel Dhadamus, Aline Delva, Wies Deckers, Wim Vandenberghe, Koen Van Laere","doi":"10.1002/mds.30255","DOIUrl":"https://doi.org/10.1002/mds.30255","url":null,"abstract":"<p><strong>Background: </strong>In some patients with parkinsonism and abnormal dopamine transporter (DAT) imaging using [¹²³I]FP-CIT single-photon emission computed tomography (SPECT), subsequent clinical evolution does not fit well with a neurodegenerative diagnosis.</p><p><strong>Objective: </strong>The objective was to analyze the results of positron emission tomography (PET) with the recently developed DAT radioligand [¹⁸F]FE-PE2I in patients with persistent diagnostic uncertainty despite an abnormal previous [¹²³I]FP-CIT SPECT scan.</p><p><strong>Methods: </strong>This retrospective study included 19 patients with suspected parkinsonism and persistent diagnostic uncertainty after visually abnormal [¹²³I]FP-CIT SPECT who subsequently underwent [¹⁸F]FE-PE2I PET (time between the two scans: 3.7 ± 2.2 years). Concordance between [¹²³I]FP-CIT SPECT and [¹⁸F]FE-PE2I PET was determined after either purely visual assessment or semiquantitative analysis.</p><p><strong>Results: </strong>In 74% of cases with visually abnormal [¹²³I]FP-CIT SPECT, [¹⁸F]FE-PE2I PET was visually normal. After semiquantitative analysis, 63% of cases with abnormal [¹²³I]FP-CIT SPECT had normal [¹⁸F]FE-PE2I PET.</p><p><strong>Conclusions: </strong>[¹⁸F]FE-PE2I PET is normal in the majority of cases, with persistent diagnostic uncertainty after abnormal [¹²³I]FP-CIT SPECT. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144188811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Positron Emission Tomography Imaging in Clinical Trials for Parkinson's Disease: Applications of Metabolic Brain Network Approach.","authors":"Vijay Dhawan, Shichun Peng, Phoebe G Spetsieris, David Eidelberg, Yilong Ma","doi":"10.1002/mds.30231","DOIUrl":"https://doi.org/10.1002/mds.30231","url":null,"abstract":"<p><p>Neuroimaging with positron emission tomography (PET) has been instrumental in elucidating neurobiological mechanisms behind therapeutical trials in Parkinson's disease (PD). A variety of medical and neurosurgical interventions have been evaluated using many radioligands that reveal molecular basis for target engagement and brain responses in relation to clinical outcome measures. This review article describes major applications of metabolic brain network analysis in therapeutical studies in non-demented PD to restore functional abnormality by drug therapy, ablative lesioning, deep brain stimulation, gene therapy, and cell transplantation alongside placebo effects. The findings with brain network biomarkers using multivariate analysis are supported by regionally specific metabolic changes and clinical correlations detected by complementary univariate analysis. The review demonstrates a powerful methodology of combining multimodal neuroimaging data and network modeling approaches followed by some perspectives on future directions in this specialty area of translational research. Different neuroimaging biomarkers have been compared in light of recent advances in biofluid biomarkers. These efforts not only bring more precise understanding on mechanisms of action associated with different therapies, but also provide a road map for conducting successful clinical trials of emerging disease-modifying therapies in PD and related disorders. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Convergent Pathway for Stimulation-Induced Dyskinesia Following Deep Brain Stimulation.","authors":"Joshua K Wong, Andreas Horn, Erik H Middlebrooks, Matthew R Burns, Michael S Okun","doi":"10.1002/mds.30251","DOIUrl":"https://doi.org/10.1002/mds.30251","url":null,"abstract":"<p><strong>Background: </strong>Stimulation-induced dyskinesias (SID) from deep brain stimulation (DBS) of the subthalamic nucleus (STN) and globus pallidus internus (GPi) are uncommon; however, they are increasingly recognized. Once considered transient and indicative of effective neuromodulation, SID are now seen as potential therapy-limiting side effects, akin to internal capsule activation. The mechanism and anatomical basis for SID remain poorly understood.</p><p><strong>Methods: </strong>We conducted a retrospective study of individuals with Parkinson's disease with STN or GPi DBS who experienced SID in the dopaminergic medication OFF state during the monopolar review 1-month post-implantation.</p><p><strong>Results: </strong>We analyzed 137 monopolar stimulation observations (105 GPi, 32 STN). In the GPi cohort, discriminative fiber tract analysis showed a strong association between SID and the modulation of subthalamo-pallidal fibers. This correlation was confirmed using leave-one-out and five-fold cross-validation. We further validated this model by predicting SID in independent STN and GPi cohorts, with the GPi-based model accounting for significant variance in SID occurrence in both cohorts.</p><p><strong>Conclusions: </strong>SID from STN or GPi DBS likely shares a common pathway via subthalamo-pallidal connectivity. DBS modulation of these fibers correlates with SID, as confirmed by multiple cross-validation methods. These findings suggest that the fibers are part of a more extensive and yet-to-be-fully-characterized dyskinesia network. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma Phosphorylated Tau181 as a Biomarker for Alzheimer's Disease Co-Pathology in Lewy Body Disease.","authors":"Rong Ye, Pia Kivisäkk, Anna Goodheart, Hadia Fatima, Erin Peterec, Emma Thibault, Michael Properzi, Keith Johnson, Steven Arnold, Stephen N Gomperts","doi":"10.1002/mds.30238","DOIUrl":"https://doi.org/10.1002/mds.30238","url":null,"abstract":"<p><strong>Background: </strong>Plasma phosphorylated tau181 (pTau181) is proving to be a useful predictor of Alzheimer's disease (AD). AD co-pathology is frequently observed across the Lewy body disease (LBD) spectrum.</p><p><strong>Objective: </strong>To determine whether pTau181 in LBD is associated with postmortem Alzheimer's disease neuropathologic changes (ADNC) and with antemortem positron emission spectrometry measurements of β-amyloid and tau deposition.</p><p><strong>Methods: </strong>We studied 53 participants with LBD who underwent plasma pTau181 assessment, contrasting them with 129 healthy control participants and 67 participants with AD. Postmortem assessments were conducted on 24 LBD cases. Spearman correlation analyses were used to assess the association between plasma pTau181 and the severity of amyloid deposits, tau accumulation, and neurodegeneration (A/T/N) measured at autopsy or via neuroimaging.</p><p><strong>Results: </strong>Plasma pTau181 in LBD participants was higher than in healthy participants and lower than in AD participants. Plasma pTau181 in LBD was moderately correlated with Thal stage, Braak neurofibrillary tangle (NFT) stage, and CERAD (Consortium to Establish a Registry for Alzheimer's Disease) scores but not Lewy body Braak stage. Plasma pTau181 was associated with cortical PiB (Pittsburgh Compound-B) retention. Elevated plasma pTau181 levels were associated with greater cortical thinning, particularly in later Braak NFT regions. The addition of plasma pTau181 improved models that included age, sex, and APOE ε4 to detect amyloid and tau positivity.</p><p><strong>Conclusions: </strong>Plasma pTau181 reflects amyloid and tau pathology but not α-synuclein pathology in LBD. Plasma pTau181 is a useful indicator for neurodegeneration in cortical regions vulnerable to NFT pathology and adds value in identifying AD co-pathology. These findings support plasma pTau181 as a cost-effective screening tool for AD co-pathology in LBD. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to: \"Use of Robust Norming to Create a Sensitive Cognitive Summary Score in De Novo Parkinson's Disease: An Illustrative Example\".","authors":"Daniel Weintraub, Michael C Brumm, Ryan Kurth, Michele K York","doi":"10.1002/mds.30247","DOIUrl":"https://doi.org/10.1002/mds.30247","url":null,"abstract":"","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}