Movement Disorders最新文献

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Further Directions in Mindfulness-Based Interventions for Tic Disorders 以正念为基础干预抽搐症的进一步发展方向
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-10-19 DOI: 10.1002/mds.29986
Ting Yu MD, Dan Shan MSc, Dong Chen MD
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引用次数: 0
Catatonia: What Else Matters? 紧张症还有什么重要的?
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-10-19 DOI: 10.1002/mds.29996
Dusan Hirjak MD, Andreas Meyer-Lindenberg MD, PhD, Georg Northoff MD, PhD
{"title":"Catatonia: What Else Matters?","authors":"Dusan Hirjak MD, Andreas Meyer-Lindenberg MD, PhD, Georg Northoff MD, PhD","doi":"10.1002/mds.29996","DOIUrl":"10.1002/mds.29996","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 10","pages":"1900-1901"},"PeriodicalIF":7.4,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142451372","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
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia. 影响 Kir4.1 通道的 KCNJ10 杂合子变异导致阵发性运动性障碍。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-10-05 DOI: 10.1002/mds.30025
Xiaojun Huang, Xin Fu, Jingying Wu, Xin Cheng, Xiaoqi Hong, Ziyi Li, Lan Zheng, Qing Liu, Shendi Chen, Beisha Tang, Yuwu Zhao, Xiaorong Liu, Xunhua Li, Xiaoli Liu, Zaiwei Zhou, Li Wu, Kan Fang, Ping Zhong, Mei Zhang, Xinghua Luan, Wotu Tian, Xiaoping Tong, Li Cao
{"title":"Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.","authors":"Xiaojun Huang, Xin Fu, Jingying Wu, Xin Cheng, Xiaoqi Hong, Ziyi Li, Lan Zheng, Qing Liu, Shendi Chen, Beisha Tang, Yuwu Zhao, Xiaorong Liu, Xunhua Li, Xiaoli Liu, Zaiwei Zhou, Li Wu, Kan Fang, Ping Zhong, Mei Zhang, Xinghua Luan, Wotu Tian, Xiaoping Tong, Li Cao","doi":"10.1002/mds.30025","DOIUrl":"https://doi.org/10.1002/mds.30025","url":null,"abstract":"<p><strong>Background: </strong>More than 60% of paroxysmal kinesigenic dyskinesia (PKD) cases are of uncertain variants.</p><p><strong>Objective: </strong>The aim was to elucidate novel genetic contribution to PKD.</p><p><strong>Methods: </strong>A total of 476 probands with uncertain genetic causes were enrolled for whole-exome sequencing. A method of case-control analysis was applied to identify the candidate genes. Whole-cell patch-clamp recording was applied to verify the electrophysiological impact of the identified variants. A mouse model with cerebellar heterozygous knockout of the candidate gene was developed via adeno-associated virus injection, and dystonia-like phenotype inducement and rotarod tests were performed. In vivo multiunit electrical recording was applied to investigate the change in neural excitability in knockout mice.</p><p><strong>Results: </strong>Heterozygous variants of potassium inwardly rectifying channel subfamily J member 10 (KCNJ10) clustered in PKD patients were compared with those in the control groups. Fifteen variants were detected in 16 of 522 probands (frequency = 3.07%). Patients with KCNJ10 variants tended to have a milder manifestation compared to those with PRRT2 (proline-rich transmembrane protein 2) variants. KCNJ10 variants partially altered the transmembrane location of inwardly rectifying potassium channel 4.1 (Kir4.1). The Kcnj10 expression is consistent with the natural course of PKD. Variants resulted in different degrees of reduction in cell Kir4.1 currents, and mice with heterozygous conditional knockout of Kcnj10 in the cerebellum presented dystonic posture, together with poor motor coordination and motor learning ability in rotarod tests. The firing rate of deep cerebellar nuclei was significantly elevated in Kcnj10-cKO mice.</p><p><strong>Conclusion: </strong>We identified heterozygous variants of KCNJ10 in PKD. Impaired function of Kir4.1 might lead to abnormal neuronal excitability, which attributed to PKD. © 2024 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142374768","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
Cholinergic Basal Forebrain Integrity and Cognition in Parkinson's Disease: A Reappraisal of Magnetic Resonance Imaging Evidence. 帕金森病的前脑基底胆碱能完整性与认知:磁共振成像证据的再评估》。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-10-03 DOI: 10.1002/mds.30023
Nicola M Slater, Tracy R Melzer, Daniel J Myall, Tim J Anderson, John C Dalrymple-Alford
{"title":"Cholinergic Basal Forebrain Integrity and Cognition in Parkinson's Disease: A Reappraisal of Magnetic Resonance Imaging Evidence.","authors":"Nicola M Slater, Tracy R Melzer, Daniel J Myall, Tim J Anderson, John C Dalrymple-Alford","doi":"10.1002/mds.30023","DOIUrl":"10.1002/mds.30023","url":null,"abstract":"<p><p>Cognitive impairment is a well-recognized and debilitating symptom of Parkinson's disease (PD). Degradation in the cortical cholinergic system is thought to be a key contributor. Both postmortem and in vivo cholinergic positron emission tomography (PET) studies have provided valuable evidence of cholinergic system changes in PD, which are pronounced in PD dementia (PDD). A growing body of literature has employed magnetic resonance imaging (MRI), a noninvasive, more cost-effective alternative to PET, to examine cholinergic system structural changes in PD. This review provides a comprehensive discussion of the methodologies and findings of studies that have focused on the relationship between cholinergic basal forebrain (cBF) integrity, based on T1- and diffusion-weighted MRI, and cognitive function in PD. Nucleus basalis of Meynert (Ch4) volume has been consistently reduced in cognitively impaired PD samples and has shown potential utility as a prognostic indicator for future cognitive decline. However, the extent of structural changes in Ch4, especially in early stages of cognitive decline in PD, remains unclear. In addition, evidence for structural change in anterior cBF regions in PD has not been well established. This review underscores the importance of continued cross-sectional and longitudinal research to elucidate the role of cholinergic dysfunction in the cognitive manifestations of PD. © 2024 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":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142363591","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
Biomarker-Based Approach to α-Synucleinopathies: Lessons from Neuropathology. 基于生物标志物的α-突触核蛋白病治疗方法:神经病理学的启示。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-10-03 DOI: 10.1002/mds.30028
Gabor G Kovacs, Lea T Grinberg, Glenda Halliday, Irina Alafuzoff, Brittany N Dugger, Shigeo Murayama, Shelley L Forrest, Ivan Martinez-Valbuena, Hidetomo Tanaka, Tomoya Kon, Koji Yoshida, Zane Jaunmuktane, Salvatore Spina, Peter T Nelson, Steve Gentleman, Javier Alegre-Abarrategui, Geidy E Serrano, Vitor Ribeiro Paes, Masaki Takao, Koichi Wakabayashi, Toshiki Uchihara, Mari Yoshida, Yuko Saito, Julia Kofler, Roberta Diehl Rodriguez, Ellen Gelpi, Johannes Attems, John F Crary, William W Seeley, John E Duda, C Dirk Keene, John Woulfe, David Munoz, Colin Smith, Edward B Lee, Manuela Neumann, Charles L White, Ann C McKee, Dietmar R Thal, Kurt Jellinger, Bernardino Ghetti, Ian R A Mackenzie, Dennis W Dickson, Thomas G Beach
{"title":"Biomarker-Based Approach to α-Synucleinopathies: Lessons from Neuropathology.","authors":"Gabor G Kovacs, Lea T Grinberg, Glenda Halliday, Irina Alafuzoff, Brittany N Dugger, Shigeo Murayama, Shelley L Forrest, Ivan Martinez-Valbuena, Hidetomo Tanaka, Tomoya Kon, Koji Yoshida, Zane Jaunmuktane, Salvatore Spina, Peter T Nelson, Steve Gentleman, Javier Alegre-Abarrategui, Geidy E Serrano, Vitor Ribeiro Paes, Masaki Takao, Koichi Wakabayashi, Toshiki Uchihara, Mari Yoshida, Yuko Saito, Julia Kofler, Roberta Diehl Rodriguez, Ellen Gelpi, Johannes Attems, John F Crary, William W Seeley, John E Duda, C Dirk Keene, John Woulfe, David Munoz, Colin Smith, Edward B Lee, Manuela Neumann, Charles L White, Ann C McKee, Dietmar R Thal, Kurt Jellinger, Bernardino Ghetti, Ian R A Mackenzie, Dennis W Dickson, Thomas G Beach","doi":"10.1002/mds.30028","DOIUrl":"https://doi.org/10.1002/mds.30028","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142363590","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
In Memoriam Kapil Sethi, MD (1953–2024) 悼念医学博士卡皮尔-塞西(1953-2024)。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-10-03 DOI: 10.1002/mds.30010
Matthew B. Stern MD, Anthony Lang MD
{"title":"In Memoriam Kapil Sethi, MD (1953–2024)","authors":"Matthew B. Stern MD,&nbsp;Anthony Lang MD","doi":"10.1002/mds.30010","DOIUrl":"10.1002/mds.30010","url":null,"abstract":"&lt;p&gt;Our beloved colleague and dear friend to so many, Kapil Sethi, MD, died unexpectedly and tragically on July 29, 2024. As in life, he was surrounded by his immediate family, extended family, close friends, and beautiful music. Those who knew Kapil best describe him as a “larger-than-life” figure whose wit, humor, knowledge, and grace made him a leader in our field, a highly respected teacher, and an entertainer on congress stages who helped create, with Dr. Tony Lang, the signature event of the annual International Congress of Parkinson's Disease and Movement Disorders. He cohosted “Video Olympics/Games/Challenge” and, with Tom Swift, “Neurobowl” at the American Academy of Neurology (AAN). These extremely popular, educational, and entertaining events were the perfect vehicles for Kapil's unparalleled skills. He was elegant in his formal attire and his banter was legendary while simultaneously teaching an audience of 1000 the finer points of neurologic diagnosis.&lt;/p&gt;&lt;p&gt;Dr. Sethi was born and raised in Punjab, India. In primary school he was known for his disdain for formal, didactic teaching and would tell stories of running away from school and riding water buffaloes to stay cool. His father eventually steered him toward medicine, although, not surprisingly, he was more interested in becoming a singer and entertainer. These qualities set the stage for his becoming an “entertainer” as an academic neurologist whose students revered him and his patient-centered approach to learning.&lt;/p&gt;&lt;p&gt;He eventually attended the Christian Medical School in Punjab and trained in Medicine and Neurology. At age 27, he emigrated to the United Kingdom for a fellowship in motor neuron disease, followed by a 2-year stint as a registrar in Wales. In the early 1980s, he moved to Augusta, Georgia, and completed a PGY-4 year in Neurology, enabling him to start his long tenure on the faculty of the Medical College of Georgia (now Georgia Health Sciences University). He first became interested in movement disorders while in India, where he observed the ravages of Parkinson's disease before levodopa, and his classic training in neurologic diagnosis attracted him to a field where phenomenology was so key. He started the first movement disorders program in Georgia in 1985 and directed it until he became Professor Emeritus in 2016. Along the way, his program became a National Parkinson Foundation Center of Excellence. He regularly and proudly pointed out that he had no formal training in movement disorders but learned at the feet of the fathers of our field, Drs. Stanley Fahn and David Marsden, by religiously attending their annual “Unusual Movement Disorders” courses at the AAN meeting.&lt;/p&gt;&lt;p&gt;Dr. Sethi was a longstanding advocate of the International Parkinson and Movement Disorder Society serving in numerous leadership roles. He chaired the development committee, was an associate editor of &lt;i&gt;Movement Disorders&lt;/i&gt;, was on the International Executive Committee, and was our re","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 10","pages":"1661-1662"},"PeriodicalIF":7.4,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142363592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hyperkinetic Movement Disorders 过度运动障碍
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-09-27 DOI: 10.1002/mds.29954
{"title":"Hyperkinetic Movement Disorders","authors":"","doi":"10.1002/mds.29954","DOIUrl":"https://doi.org/10.1002/mds.29954","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 S1","pages":"S593-S739"},"PeriodicalIF":7.4,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.29954","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Trials 临床试验
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-09-27 DOI: 10.1002/mds.29951
{"title":"Clinical Trials","authors":"","doi":"10.1002/mds.29951","DOIUrl":"https://doi.org/10.1002/mds.29951","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 S1","pages":"S290-S353"},"PeriodicalIF":7.4,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.29951","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Allied Healthcare Quality of Life Palliative Care 专职医疗护理 生命质量 姑息关怀
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-09-27 DOI: 10.1002/mds.29950
{"title":"Allied Healthcare Quality of Life Palliative Care","authors":"","doi":"10.1002/mds.29950","DOIUrl":"https://doi.org/10.1002/mds.29950","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 S1","pages":"S241-S289"},"PeriodicalIF":7.4,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.29950","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Education History Other 教育经历 其他
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-09-27 DOI: 10.1002/mds.29957
{"title":"Education History Other","authors":"","doi":"10.1002/mds.29957","DOIUrl":"https://doi.org/10.1002/mds.29957","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 S1","pages":"S859-S896"},"PeriodicalIF":7.4,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.29957","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142324474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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