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Movement Disorders Clinical Practice最新文献

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Use of and Barriers to Subcutaneous Apomorphine Pen Injections in Parkinson's Disease: A Survey by the French NS-PARK Network. 阿波啡笔皮下注射在帕金森病中的使用和障碍：法国NS-PARK网络的调查。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-09 DOI: 10.1002/mdc3.70074
Mickael Aubignat, Fatma Khelifi, Olivier Rascol
{"title":"Use of and Barriers to Subcutaneous Apomorphine Pen Injections in Parkinson's Disease: A Survey by the French NS-PARK Network.","authors":"Mickael Aubignat, Fatma Khelifi, Olivier Rascol","doi":"10.1002/mdc3.70074","DOIUrl":"https://doi.org/10.1002/mdc3.70074","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia. STARDEV研究：惊吓病/高丛症患者的神经发育轨迹和长期预后
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-07 DOI: 10.1002/mdc3.70071
Diane Pina, Agathe Roubertie, Marie-Aude Spitz, Claudia Ravelli, Nadia Bahi-Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly-Perin, Marie-Christine Nougues, Benedicte Heron, Regis Lopez, Mathieu Anheim, Mélanie Fradin, Claude Cances, Justine Avez-Couturier, Fabienne Dalmon, Gaëtan Lesca, Vincent Des Portes, Laurence Lion-François
{"title":"STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.","authors":"Diane Pina, Agathe Roubertie, Marie-Aude Spitz, Claudia Ravelli, Nadia Bahi-Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly-Perin, Marie-Christine Nougues, Benedicte Heron, Regis Lopez, Mathieu Anheim, Mélanie Fradin, Claude Cances, Justine Avez-Couturier, Fabienne Dalmon, Gaëtan Lesca, Vincent Des Portes, Laurence Lion-François","doi":"10.1002/mdc3.70071","DOIUrl":"https://doi.org/10.1002/mdc3.70071","url":null,"abstract":"<p><strong>Background: </strong>Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long-term clinical outcomes is lacking.</p><p><strong>Objectives: </strong>We provide a long-term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory.</p><p><strong>Methods: </strong>Twenty-eight patients from nine French hospitals were included based on clinical diagnosis criteria. Adaptive abilities were assessed using VABS-II.</p><p><strong>Results: </strong>VABS-II showed preserved adaptive abilities, except in motor skills. Early development was marked by neurodevelopmental delay in 53% of patients, with 57% developing neurodevelopmental disorders, primarily specific learning disorders. Intellectual disability and/or autism spectrum disorder were present in five patients. Symptoms were most frequent during the first 3 years of life, with persistence of exaggerated startle reflex and falls. One-quarter of the patients discontinued clonazepam. A genetic variant was found in 85% of patients, involving one of the three main genes GLRA1, SLC6A5, or GLRB.</p><p><strong>Conclusions: </strong>Our findings highlight preserved adaptive abilities, frequent neurodevelopmental disorders and long-term pharmacodependence.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Overcoming Absorption Issues: Success with Inhaled Levodopa in a Gastrectomized PD Patient. 克服吸收问题：成功吸入左旋多巴在胃切除PD患者。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-05 DOI: 10.1002/mdc3.70050
Manuel Delgado-Alvarado, Jon Infante, Sebastián Serafini-Vicencio, Carlos Miliani-Molina, Fernando Pereira-Pérez, Javier Riancho
{"title":"Overcoming Absorption Issues: Success with Inhaled Levodopa in a Gastrectomized PD Patient.","authors":"Manuel Delgado-Alvarado, Jon Infante, Sebastián Serafini-Vicencio, Carlos Miliani-Molina, Fernando Pereira-Pérez, Javier Riancho","doi":"10.1002/mdc3.70050","DOIUrl":"https://doi.org/10.1002/mdc3.70050","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Alien Limb Phenomenon and Ideomotor Apraxia as Early Indicators of Sporadic Creutzfeldt-Jakob Disease. 异肢现象和意念运动障碍是散发性克雅氏病的早期指标。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-04 DOI: 10.1002/mdc3.70070
Gero Lueg, Ilka Kleffner, Markus A Hobert
{"title":"Alien Limb Phenomenon and Ideomotor Apraxia as Early Indicators of Sporadic Creutzfeldt-Jakob Disease.","authors":"Gero Lueg, Ilka Kleffner, Markus A Hobert","doi":"10.1002/mdc3.70070","DOIUrl":"https://doi.org/10.1002/mdc3.70070","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort. 表现为帕金森病的 Progranulin 基因突变：来自 PADUA-CESNE 队列的病例系列。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-04 DOI: 10.1002/mdc3.70064
Giulia Bonato, Marta Campagnolo, Aron Emmi, Valentina Misenti, Tommaso Carrer, Carmelo Fogliano, Leonardo Salviati, Miryam Carecchio, Angelo Antonini
{"title":"Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort.","authors":"Giulia Bonato, Marta Campagnolo, Aron Emmi, Valentina Misenti, Tommaso Carrer, Carmelo Fogliano, Leonardo Salviati, Miryam Carecchio, Angelo Antonini","doi":"10.1002/mdc3.70064","DOIUrl":"https://doi.org/10.1002/mdc3.70064","url":null,"abstract":"<p><strong>Background: </strong>Mutations in progranulin (GRN) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients.</p><p><strong>Cases: </strong>We report three subjects from the PADUA-CESNE cohort, meeting diagnostic criteria for PD, with onset under age 55. All had good response to dopaminergic therapy, abnormal dopamine transporter single-photon emission computed tomography striatal uptake and a disease course consistent with PD, without clear atypical features, behavioral, or cognitive deficits. Genetic testing (next-generation sequencing [NGS] panel) revealed three different variants in GRN gene. Skin biopsy immunohistochemistry analysis showed phosphorylated α-synuclein deposition in two and was negative in one subject.</p><p><strong>Conclusions: </strong>Our findings expand the phenotypic spectrum of GRN mutations, showing that patients can present with clinical manifestations of PD, including phosphorylated synuclein pathology in the skin, with a relatively young age of onset. Our observations support the use of broad-spectrum NGS panels to properly guide patients in counseling and accurately allocate them to disease-modifying therapies.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Simultaneous Nonmotor Symptoms Do Not Affect General Validity but Interpretation of the Parkinson's Disease Motor Diary. 同时出现的非运动症状不会影响帕金森病运动日记的一般有效性，但会影响其解释。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-03 DOI: 10.1002/mdc3.70061
Hampus Andersson, Alexander Bremer, Florin Gandor, Georg Ebersbach, Matthias Löhle, Per Odin, Alexander Storch
{"title":"Simultaneous Nonmotor Symptoms Do Not Affect General Validity but Interpretation of the Parkinson's Disease Motor Diary.","authors":"Hampus Andersson, Alexander Bremer, Florin Gandor, Georg Ebersbach, Matthias Löhle, Per Odin, Alexander Storch","doi":"10.1002/mdc3.70061","DOIUrl":"https://doi.org/10.1002/mdc3.70061","url":null,"abstract":"<p><strong>Background: </strong>Motor fluctuations are routinely documented using the Parkinson's disease (PD) home diary. However, the validity of this diary when compared to clinical observers is limited.</p><p><strong>Objective: </strong>This study disassembled the effects of nonmotor symptoms (NMS) on inter-method agreement between the PD home motor diary and clinical observers (outside validity criterion).</p><p><strong>Methods: </strong>A prospective observational VALIDATE-PD cohort study in advanced PD assessing symptom severity by simultaneous hourly ratings using the home diary (Off, On, dyskinetic state) and a nonmotor diary (11 key NMSs) was performed. Test validity measures (accuracy and Cohen's κ) were compared between hours with and without co-occurring NMS.</p><p><strong>Results: </strong>Four hundred eighty-seven hourly time periods from 47 participants were analyzed. Inter-method agreement (accuracy, Cohen's κ) of the motor diary was independent of co-occurring NMSs, but simultaneous NMSs inversely influence false ratings of motor Off and On states.</p><p><strong>Conclusions: </strong>Simultaneously occurring NMSs do not affect general validity but the interpretation of the PD home motor diary.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Akinetic Rigid-Mute State Associated with Hand and Tongue Tremor: An Atypical Presentation of Enterovirus Encephalitis. 与手和舌头震颤相关的动力学僵硬-沉默状态：肠病毒脑炎的非典型表现。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-03 DOI: 10.1002/mdc3.70069
Abhay Ranjan, Abhay, Neetu Sinha, Ashok Kumar
{"title":"Akinetic Rigid-Mute State Associated with Hand and Tongue Tremor: An Atypical Presentation of Enterovirus Encephalitis.","authors":"Abhay Ranjan, Abhay, Neetu Sinha, Ashok Kumar","doi":"10.1002/mdc3.70069","DOIUrl":"https://doi.org/10.1002/mdc3.70069","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Running into Trouble: The Problem of Overexercise in Parkinson's Disease (in some). 遇到麻烦：帕金森病的过度运动问题（在某些情况下）。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-03 DOI: 10.1002/mdc3.70066
Lennard I Boon, Amit Batla, Kailash P Bhatia
{"title":"Running into Trouble: The Problem of Overexercise in Parkinson's Disease (in some).","authors":"Lennard I Boon, Amit Batla, Kailash P Bhatia","doi":"10.1002/mdc3.70066","DOIUrl":"https://doi.org/10.1002/mdc3.70066","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Reply: "Enhancing Parkinson's Disease Research: Recommendations for Addressing Genetic and Environmental Influences in Family History Studies". 答复：“加强帕金森氏病研究：解决家族史研究中遗传和环境影响的建议”。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-02 DOI: 10.1002/mdc3.70034
Federica Arienti, Edoardo Monfrini, Alessio Di Fonzo
{"title":"Reply: \"Enhancing Parkinson's Disease Research: Recommendations for Addressing Genetic and Environmental Influences in Family History Studies\".","authors":"Federica Arienti, Edoardo Monfrini, Alessio Di Fonzo","doi":"10.1002/mdc3.70034","DOIUrl":"https://doi.org/10.1002/mdc3.70034","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia. 扩展SPG26的临床谱：b4galnt1相关的遗传性痉挛性截瘫1例报告和回顾。
IF 2.6 4区 医学
Movement Disorders Clinical Practice Pub Date : 2025-04-02 DOI: 10.1002/mdc3.70062
Sebastiano Giacomozzi, Luigi Bonan, Chiara La Morgia, Michele Carbonelli, Margherita Santucci, Federica Isidori, Tommaso Pippucci, Rocco Liguori, Giovanni Rizzo
{"title":"Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia.","authors":"Sebastiano Giacomozzi, Luigi Bonan, Chiara La Morgia, Michele Carbonelli, Margherita Santucci, Federica Isidori, Tommaso Pippucci, Rocco Liguori, Giovanni Rizzo","doi":"10.1002/mdc3.70062","DOIUrl":"https://doi.org/10.1002/mdc3.70062","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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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