Movement Disorders最新文献

{"title":"A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy.","authors":"Roberta Bovenzi,Mariasavina Severino,Jennifer Nichols,Fred Shen,Ignacio J Keller Sarmiento,Bernabe I Bustos,Lisa Kinsley,Dimitri Krainc,Niccolò E Mencacci","doi":"10.1002/mds.70077","DOIUrl":"https://doi.org/10.1002/mds.70077","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"154 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145140374","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":"Longitudinal Trajectory of Multimodal Markers in a Patient with Isolated REM Sleep Behavior Disorder.","authors":"Seohee Choi,Ryul Kim,Kyung Ah Woo,Jung Hwan Shin,Eun Jin Yoon,Heejung Kim,Yu Kyeong Kim,Jee-Young Lee","doi":"10.1002/mds.70052","DOIUrl":"https://doi.org/10.1002/mds.70052","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"24 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145127183","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":"Neurodevelopmental Disorder and Cortical Myoclonus in ZMYM2 Deficiency.","authors":"Luca Pollini,Maria Novelli,Lorena Travaglini,Fabiola Panvino,Vincenzo Leuzzi,Francesco Pisani,Serena Galosi","doi":"10.1002/mds.70056","DOIUrl":"https://doi.org/10.1002/mds.70056","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145127182","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":"Reconsidering the Clinical Foundations of NSD-ISS in PD Staging.","authors":"Halil Onder,Tugba Uzel,Ozlem Bizpinar","doi":"10.1002/mds.70061","DOIUrl":"https://doi.org/10.1002/mds.70061","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"1 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145127184","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":"Preoperative Functional Connectivity Predicts Antiparkinson Drug Change after Deep Brain Stimulation.","authors":"David Mikhael,Skyler Deutsch,Juhi Mehta,Sarah Wang,John Kornak,Philip A Starr,Jill L Ostrem,Doris D Wang,Ian O Bledsoe,Melanie A Morrison","doi":"10.1002/mds.70063","DOIUrl":"https://doi.org/10.1002/mds.70063","url":null,"abstract":"BACKGROUNDDeep brain stimulation (DBS) can effectively ameliorate motor symptoms in Parkinson's disease (PD), but patient outcomes remain variable. Clinical predictors lack reliability and only explain a small proportion of outcome variance, outlining a need for biomarkers that can enhance prediction accuracy. Functional magnetic resonance imaging (fMRI) could address this, offering insight into the relative impact of functional brain health on DBS outcomes.METHODSPreoperative resting-state fMRI was retrospectively collected for 120 patients with PD and DBS targeting the subthalamic nucleus or pallidum. Motor network connectivity was computed, and clinical predictors extracted including age, sex, target, hemisphere treated, and preoperative medication responsiveness. Pre-to-post changes in antiparkinson medications defined outcomes. Regression analysis selected important connectivity features and evaluated additional outcome variance explained by fMRI when combined with clinical predictors. Last, classification analysis assessed fMRI feature specificity to PD compared to Huntington's disease and healthy controls.RESULTSAlongside clinical predictors, fMRI features explained more outcome variance (R2 adjusted = 0.36) than clinical predictors alone (R2 adjusted = 0.13). Five connectivity pairs bridging the cortico-basal ganglia-cerebellar network were predictive of outcomes and distinguished PD from controls and Huntington's disease with reasonable accuracy (67% and 73%). Exploratory analysis revealed that intracerebellar connectivity, although a less stable predictor of DBS outcomes, dramatically increased PD classification accuracy (≥98%).CONCLUSIONPatient-specific motor connectivity enhances DBS outcome prediction and could aid detection and monitoring of basal ganglia disorders. Future work will validate and extend our models for multi-parameter MR prediction of standardized outcomes, toward the development of decision support tools for DBS. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"18 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145127181","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":"Reply to: “Focused Ultrasound versus Radiofrequency Ablation for Pallidothalamic Tractotomy: Looking beyond the Bilateral Effects”","authors":"Jun Ikezawa, Fusako Yokochi, Toshio Yamaguchi, Keiichi Abe, Tsutomu Kamiyama, Tomoya Kawazoe, Shiro Horisawa, Jinichi Sasanuma, Tomokatsu Hori, Hiroki Hori, Toru Kakegawa, Ryoichi Okiyama, Kazushi Takahashi, Takaomi Taira","doi":"10.1002/mds.70051","DOIUrl":"https://doi.org/10.1002/mds.70051","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"195 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145116417","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":"Focused Ultrasound versus Radiofrequency Ablation for Pallidothalamic Tractotomy: Looking beyond the Bilateral Effects","authors":"Archita Makharia, Divya M. Radhakrishnan, Achal Kumar Srivastava","doi":"10.1002/mds.70057","DOIUrl":"https://doi.org/10.1002/mds.70057","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"35 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145116416","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":"Quieting Cholinergic Neurons in Dystonia","authors":"Antonio Pisani, H.A. Jinnah","doi":"10.1002/mds.70045","DOIUrl":"https://doi.org/10.1002/mds.70045","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"21 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145116419","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":"Interplay Between Sex and Cytosine-Adenine-Guanine-Age Product Score in Huntington's Disease: Clinical and Neuroimaging Perspectives.","authors":"Jingwen Yao,Grayson Feng,Guowen Shao,Zexi Wang,Adys Mendizabal,Donatello Telesca,Kaiying Fang,Lola Ibragimova,Juwairia Shoaib,Melanie A Morrison,Janine M Lupo","doi":"10.1002/mds.70064","DOIUrl":"https://doi.org/10.1002/mds.70064","url":null,"abstract":"BACKGROUNDHuntington's disease (HD) is a progressive neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion in the huntingtin gene. The disease exhibits sex-related differences in symptomatology and disease progression, but the effect on brain structural biomarkers and the interaction between sex and CAG-age product score (CAPS), a widely used index combining the effect of CAG expansion and age, remains underexplored.OBJECTIVEThe aim of this study was to investigate the interplay between sex and CAPS on clinical measures and neuroimaging biomarkers in HD.METHODSWe retrospectively analyzed data from Enroll-HD, TRACK-HD/ON, PREDICT-HD, and IMAGE-HD studies, including a combined dataset of 19,738 participants with CAG ≥ 40. Linear mixed models were employed to evaluate the influence of sex and the sex-CAPS interaction on clinical evaluations, including Unified HD Rating Scale (UHDRS) UHDRS and Problem Behaviors Assessment, and neuroimaging biomarkers (striatal volumes and cortical thickness), while controlling for covariates.RESULTSFemale participants exhibited less pronounced striatal atrophy and cortical thinning with increasing CAPS (caudate: β male / female $$ {beta}_{mathrm{male}/mathrm{female}} $$ = -3.449/-2.931, P = 0.05; putamen: β male / female $$ {beta}_{mathrm{male}/mathrm{female}} $$ = -4.770/-3.902, P < 0.01). Regarding clinical measures, females experience greater motor decline with increasing CAPS (total motor score: β male / female $$ {beta}_{mathrm{male}/mathrm{female}} $$ = 3.008/3.230, P < 0.0001), greater cognitive decline (symbol digit modalities test: β male / female $$ {beta}_{mathrm{male}/mathrm{female}} $$ = -34.52/-38.57, P < 0.0001), and greater functional decline (total functional capacity: β male / female $$ {beta}_{mathrm{male}/mathrm{female}} $$ = -6.413/-6.783, p < 0.05; Independence Scale: β male / female $$ {beta}_{mathrm{male}/mathrm{female}} $$ = -32.26/-34.85, P < 0.001).CONCLUSIONSThe sex-CAPS interaction significantly impacts both clinical and neuroimaging biomarkers of HD, underscoring the importance of incorporating sex-specific considerations into the clinical staging and management of HD. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"99 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145117155","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":"The CM-aGPi Network in the Generation of Tics in Tourette Syndrome.","authors":"Grace Lowor,Julieth Gomez,Matthew Hook,Chris Butson,Kelly Foote,Michael S Okun,Aysegul Gunduz","doi":"10.1002/mds.70043","DOIUrl":"https://doi.org/10.1002/mds.70043","url":null,"abstract":"BACKGROUNDTourette syndrome (TS) is a neurodevelopmental disorder characterized by intermittent involuntary, repetitive movements and vocalizations collectively referred to as tics. For participants with severe tics who are resistant to medication and behavioral therapy, deep brain stimulation (DBS) has emerged as a potential treatment. Suboptimal animal models and shortcomings in anatomical imaging have collectively hindered progress in understanding the neurophysiological basis of human tic generation.OBJECTIVESThis study investigates the mechanisms underlying tic generation across two DBS targets with simultaneous recordings-the centromedian thalamus (CM) and anterior globus pallidus internus (aGPi)-and their interactions.METHODSSix participants with TS underwent bilateral implantation of four total CM and aGPi leads connected to two adaptive neurostimulators. Preoperative magnetic resonance imaging (MRI) and postoperative computed tomography (CT) scans localized lead and contact locations in CM and aGPi. Neural signals were recorded over nine consecutive monthly visits, encompassing both tic and symptom-free states. No stimulation was applied during the recordings.RESULTSRecordings from both human CM and aGPi revealed increased low-frequency (<20 Hz) power during both motor and vocal tics. The pallido-thalamic coherence in the pathological 1-10 Hz band was significantly greater during tics than in symptom-free states. The phase difference between the two nuclei was reduced during tics, with higher internuclear phase differences observed in the left hemisphere.CONCLUSIONThese findings reveal distinct neural dynamics in the basal ganglia-thalamus network during tic generation, providing insight into the pathophysiology underlying human TS. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"16 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145103426","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}