Movement Disorders最新文献

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Amyloid Co-Pathology and Clinical Heterogeneity of Parkinson's Disease 帕金森病的淀粉样蛋白共同病理和临床异质性。
IF 7.7 1区 医学
Movement Disorders Pub Date : 2026-09-24 Epub Date: 2026-07-29 DOI: 10.1002/mds.70459
Ronald B. Postuma MD, MSc
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引用次数: 0
An Emerging Role for Oligodendrocytes and Myelin Dysfunction in Essential Tremor 少突胶质细胞和髓磷脂功能障碍在特发性震颤中的新作用
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-09-21 DOI: 10.1002/mds.70548
Thomas Welton, Eng‐King Tan
{"title":"An Emerging Role for Oligodendrocytes and Myelin Dysfunction in Essential Tremor","authors":"Thomas Welton, Eng‐King Tan","doi":"10.1002/mds.70548","DOIUrl":"https://doi.org/10.1002/mds.70548","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"47 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149009981","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}
引用次数: 0
Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease 血浆溶酶体表达谱与帕金森病严重程度的关系
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-09-21 DOI: 10.1002/mds.70542
Janna van Wetering, Manon M. van Ingen, Evelien Timmermans, Sjors G.J.G. in't Veld, Henk W. Berendse, Charlotte E. Teunissen, Wilma D.J. van de Berg
{"title":"Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease","authors":"Janna van Wetering, Manon M. van Ingen, Evelien Timmermans, Sjors G.J.G. in't Veld, Henk W. Berendse, Charlotte E. Teunissen, Wilma D.J. van de Berg","doi":"10.1002/mds.70542","DOIUrl":"https://doi.org/10.1002/mds.70542","url":null,"abstract":"Background Parkinson's disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder, driven by multiple mechanisms among which are lysosomal and mitochondrial dysfunction. Here, we explored blood‐based lysosomal and mitochondrial profiles in relation to PD diagnosis and severity. Methods Plasma samples (n = 504) were analyzed using SomaScan, targeting 394 lysosomal and 502 mitochondrial proteins in a discovery (ProPARK: 145 PD, 73 controls) and a validation cohort (Alzheimer's Disease Research Center [ADRC]: 104 PD, 182 controls). Linear and LASSO regression were included to compare groups and select PD‐predictive proteins. Associations with Unified Parkinson's Disease Rating Scale (UPDRS), Hoehn and Yahr, Montreal Cognitive Assessment (MoCA), levodopa equivalent daily dose (LEDD) and disease duration were assessed and age‐, sex‐, and false discovery rate (FDR)‐adjusted. Results In ProPARK, 29 dysregulated lysosomal and 46 mitochondrial proteins were identified in PD; upregulated lysosomal sulfatase‐modifying factor 1 (SUMF1) (FC = 1.41) and arrestin domain containing 3 (ARRDC3) (1.36) survived correction. LASSO identified eight lysosomal proteins (area under the curve [AUC] train: 0.83, test: 0.75) and two mitochondrial proteins (AUC train: 0.66, test: 0.65). Lysosomal score associated with disease duration, LEDD, and UPDRS‐IV, whereas mitochondrial score did not. SUMF1 associated with disease duration, LEDD, and UPDRS‐IV; ARRDC3 only with disease duration. In ADRC, upregulation of SUMF1 and ARRDC3 in PD (FC = 1.72 and 1.36), their association with LEDD, discriminatory AUCs of lysosomal and mitochondrial scores (0.80 and 0.58), and the association between lysosomal score and LEDD replicated. Conclusions Lysosomal expression scores discriminated PD from controls and associated with disease severity. SUMF1 and ARRDC3 emerged as blood‐based biomarkers for PD. These findings support the use of pathway‐specific biomarkers for improving PD diagnostics and monitoring disease progression. © 2026 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":"2 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149009980","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}
引用次数: 0
Novel and Emerging Therapies for Childhood‐Onset Movement Disorders 儿童运动障碍的新疗法
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-09-11 DOI: 10.1002/mds.70495
Claudio M. de Gusmao,Vladimir L. Katanaev,Laura Silveira‐Moriyama,Tamara Pringsheim,Emmanuel Roze
{"title":"Novel and Emerging Therapies for Childhood‐Onset Movement Disorders","authors":"Claudio M. de Gusmao,Vladimir L. Katanaev,Laura Silveira‐Moriyama,Tamara Pringsheim,Emmanuel Roze","doi":"10.1002/mds.70495","DOIUrl":"https://doi.org/10.1002/mds.70495","url":null,"abstract":"Abstract Childhood‐onset movement disorders comprise a heterogeneous group of rare conditions with substantial unmet therapeutic needs. Recent advances in disease gene discovery, mechanistic modeling, and translational platforms have accelerated the development of targeted therapies and enabled innovative clinical trial designs for small patient populations. To review novel and emerging therapies for childhood‐onset movement disorders, with a focus on pharmacologic strategies, disease‐modifying approaches, and patient‐centered precision therapies. We surveyed the literature, major conference proceedings, and expert networks to identify therapies approved, in clinical development, or supported by compelling preclinical data between 2022 and 2025. We focused on small molecules and genetic therapies for conditions in which movement disorders represent a prominent clinical feature. Small molecules were categorized as repurposed or novel drugs, whereas genetic therapies included gene replacement, gene editing, and RNA ‐based expression modulation. Drug repurposing approaches have shown promise in disorders related to the GNAO1 , ATP1A3 , ATM , and ADCY5 genes. Novel small molecules have advanced for Friedreich's ataxia and Tourette's syndrome. Gene replacement therapies have demonstrated clinical benefit in select neurotransmitter disorders, whereas gene editing strategies have entered preclinical development for ATP1A3 ‐related disease. Antisense oligonucleotide therapies have yielded encouraging early results across several conditions with prominent movement disorder phenotypes, including KIF1A ‐related neurological disorder, Angelman syndrome, SCN2A ‐related neurodevelopmental disorder, and ataxia‐telangiectasia. Precision‐based therapeutic strategies are rapidly reshaping the treatment landscape for childhood‐onset movement disorders. Continued progress will depend on rigorous phenotyping, careful ethical oversight, and deliberate efforts to promote equitable global access to emerging therapies. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"7 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148923255","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}
引用次数: 0
What P ‐Values Can (and Cannot) Tell Us in Clinical Neurology 在临床神经学中P值可以(和不能)告诉我们什么
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-09-10 DOI: 10.1002/mds.70503
Alessandro Rovetta,Leonardo Biscetti,Mohammad Ali Mansournia
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引用次数: 0
Reply to: “Autosomal‐Dominant Dystonia Associated with CAPN3 Variant” 回复:“常染色体显性肌张力障碍与CAPN3变异相关”
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-09-10 DOI: 10.1002/mds.70528
Yoon Seob Kim, Don Gueu Park, Young Bae Sohn, Jung Han Yoon
{"title":"Reply to: “Autosomal‐Dominant Dystonia Associated with CAPN3 Variant”","authors":"Yoon Seob Kim, Don Gueu Park, Young Bae Sohn, Jung Han Yoon","doi":"10.1002/mds.70528","DOIUrl":"https://doi.org/10.1002/mds.70528","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"6 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148915500","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}
引用次数: 0
What Constitutes Long‐Duration Response?: From Withdrawal Studies to Virtual Trajectories in Parkinson's Disease 什么构成长时间反应?从帕金森病的戒断研究到虚拟轨迹
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-09-08 DOI: 10.1002/mds.70536
Halil Onder
{"title":"What Constitutes Long‐Duration Response?: From Withdrawal Studies to Virtual Trajectories in Parkinson's Disease","authors":"Halil Onder","doi":"10.1002/mds.70536","DOIUrl":"https://doi.org/10.1002/mds.70536","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"35 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148902281","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}
引用次数: 0
Rare‐Variant Burden in Mitochondrial Parkinson's Disease 线粒体帕金森病的罕见变异负担
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-09-08 DOI: 10.1002/mds.70538
Martin Rakusa, Gaber Bergant, Borut Peterlin
{"title":"Rare‐Variant Burden in Mitochondrial Parkinson's Disease","authors":"Martin Rakusa, Gaber Bergant, Borut Peterlin","doi":"10.1002/mds.70538","DOIUrl":"https://doi.org/10.1002/mds.70538","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"1 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148902282","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}
引用次数: 0
PINK1 ‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation PINK1相关的少年型帕金森病:显着的表型变异性和有限的基因型-表型相关性
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-08-31 DOI: 10.1002/mds.70502
Reza Maroofian, Ross Leng, Shilpan G. Patel, Hina Ojha, Heba Hosny, Maha Zaki, Miratul M.K. Muqit, Henry Houlden
{"title":"PINK1 ‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation","authors":"Reza Maroofian, Ross Leng, Shilpan G. Patel, Hina Ojha, Heba Hosny, Maha Zaki, Miratul M.K. Muqit, Henry Houlden","doi":"10.1002/mds.70502","DOIUrl":"https://doi.org/10.1002/mds.70502","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"33 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148860859","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}
引用次数: 0
Parkinson's Disease and Retinal Age Gap: A Cross‐Sectional Analysis 帕金森病与视网膜年龄差距:一项横断面分析
IF 8.6 1区 医学
Movement Disorders Pub Date : 2026-08-31 DOI: 10.1002/mds.70490
Akshay Narayan, Oscar Earle, Yukun Zhou, Axel Petzold, Rimona S. Weil, Alastair K. Denniston, Anthony P. Khawaja, Pearse A. Keane, Zhuoting Zhu, Siegfried K. Wagner
{"title":"Parkinson's Disease and Retinal Age Gap: A Cross‐Sectional Analysis","authors":"Akshay Narayan, Oscar Earle, Yukun Zhou, Axel Petzold, Rimona S. Weil, Alastair K. Denniston, Anthony P. Khawaja, Pearse A. Keane, Zhuoting Zhu, Siegfried K. Wagner","doi":"10.1002/mds.70490","DOIUrl":"https://doi.org/10.1002/mds.70490","url":null,"abstract":"Background Deep‐learning models are capable of predicting age from retinal scans and the difference between this and chronological age, retinal age gap, has been shown to be significantly associated with risk of mortality, cardiovascular diseases, and kidney failure. Objective Our aim was to investigate the association between Parkinson's disease (PD) and retinal age gap in a large, real‐world population. Methods The deep‐learning model was trained and validated using 19,200 fundus images from 11,052 participants in the UK Biobank study. This cross‐sectional analysis used data from the AlzEye study, a retrospective cohort of 154,830 patients aged 40 years and older. Retinal age gap was calculated as the difference between the retina‐predicted age by the model and chronological age. Adjusted linear mixed‐effects models were used to assess the association between PD and retinal age gap. Results A total of 776 individuals with PD (mean [standard deviation] age, 69.6 [8.9] years; 42.9% female) and 93,944 without PD (mean age, 57.6 [13.7] years; 51.6% female) were included. After adjusting for confounders, retinal age gap was significantly greater in those with PD ( <jats:italic>β</jats:italic> , 5.92, 95% confidence interval: 5.33–6.51; <jats:italic>P</jats:italic> &lt; 0.001). Stratified analyses showed a larger retinal age gap across all age deciles ≥50 years. Within the PD group, males and individuals with diabetes had greater retinal age gaps than females and individuals without diabetes. Conclusions Individuals with PD aged ≥50 years demonstrate older retinal age relative to chronological age. Retinal age gap may serve as a biomarker of accelerated aging in PD. © 2026 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":"184 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148860865","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}
引用次数: 0
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