Movement Disorders Clinical Practice最新文献_第3页

Entrainment Characteristics of Functional Tremor. 功能性震颤的诱导特征

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-11-04 DOI: 10.1002/mdc3.14258

Aditya Murgai, Svetlana Iskhakova

引用次数: 0

Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure. 米格鲁司特作为疾病调节疗法用于一名 SCARB2 相关性肌阵挛肾衰竭患者。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-11-08 DOI: 10.1002/mdc3.14273

Fabiana Colucci, Andrea Dardis, Eleonora Pavan, Maurizio Scarpa, Andrea Gozzi, Pietro Antenucci, Marianna Farnè, Marcella Neri, Alessandra Ferlini, Valeria Tugnoli, Annalisa Sechi, Mariachiara Sensi

引用次数: 0

Imaging Findings of Intracerebral Infection after Deep Brain Stimulation: Pediatric Case Series and Literature Review. 脑深部刺激后脑内感染的影像学发现：儿科病例系列和文献综述

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-11-09 DOI: 10.1002/mdc3.14251

Andrew Z Yang, Alexandre Boutet, Vivek Pai, Michael J Colditz, Artur Vetkas, Brendan Santyr, Nardin Samuel, Jurgen Germann, Sara Breitbart, Lior Elkam, Birgit Ertl-Wagner, Alfonso Fasano, Andres M Lozano, George M Ibrahim, Carolina Gorodetsky

引用次数: 0

Local Field Potential-Based Programming for Deep Brain Stimulation in Pediatric DYT1 Dystonia. 小儿DYT1肌张力障碍深部脑刺激的局部场电位规划。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-12-03 DOI: 10.1002/mdc3.14283

James Kelbert, Ashley Guest, Pritha Bisarad, Travis R Larsh, Poonam Bhatia, Sarah Chinander, Patricia Cornejo, Lauren van der Werf, Francisco A Ponce, John A Thompson, Michael C Kruer

引用次数: 0

Increasing Sensitivity in Patient-Reported MDS-UPDRS Items for Predicting Medication Initiation in Early PD. 提高患者报告的 MDS-UPDRS 项目对预测早期帕金森病用药启动的敏感性。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-10-18 DOI: 10.1002/mdc3.14229

Haotian Zou, Christopher G Goetz, Glenn T Stebbins, Tiago A Mestre, Sheng Luo

{"title":"Increasing Sensitivity in Patient-Reported MDS-UPDRS Items for Predicting Medication Initiation in Early PD.","authors":"Haotian Zou, Christopher G Goetz, Glenn T Stebbins, Tiago A Mestre, Sheng Luo","doi":"10.1002/mdc3.14229","DOIUrl":"10.1002/mdc3.14229","url":null,"abstract":"Background: The MDS-UPDRS Parts IB and II are self-reported items providing a direct patient voice to the experiences of PD.Objective: To determine the most sensitive combination of MDS-UPDRS Parts IB and II items that accurately predicted the clinically relevant target of dopaminergic therapy initiation.Methods: Utilizing a longitudinal cohort of de novo non-treated PD patients, we applied item response theory (IRT) and survival analysis to assess the relationship between baseline patient-reported symptoms and the later initiation of dopaminergic therapy. The 20 MDS-UPDRS Parts IB and II items were analyzed for their relationship to PD severity (discrimination) and the amount of information they provided in this determination (information). These parameters were used to develop models of predictive accuracy for initiation of dopaminergic therapy.Results: A six-item version showed a significantly higher C-index as compared to the full 20 item model (P = 0.001). This shortened version of the MDS-UPDRS contained only Part II items and provided a predictive accuracy for initiation of dopaminergic therapy better than the total combined scale score or any other combination.Conclusions: A six-item \"Baseline Outcome Voice\" version of patient-reported MDS-UPDRS items significantly increases the sensitivity of predicting the key future clinical outcome of starting dopaminergic treatment in early PD. This study also demonstrates how IRT modeling can provide information useful to refining existing measures to identify the most sensitive combination of items honoring the voice of the patient in determining key clinically pertinent decisions. Further research is needed to validate these findings in underrepresented populations.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"148-156"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-12-02 DOI: 10.1002/mdc3.14289

Emmanuel Roze, Laura Silveira-Moriyama, Smaranda Leu-Semenescu, Nathalie Villeneuve, Bérénice Lecardonnel, Marie-Céline François-Heude, Pierre Meyer, Claudio M de Gusmao, Agathe Roubertie

{"title":"KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.","authors":"Emmanuel Roze, Laura Silveira-Moriyama, Smaranda Leu-Semenescu, Nathalie Villeneuve, Bérénice Lecardonnel, Marie-Céline François-Heude, Pierre Meyer, Claudio M de Gusmao, Agathe Roubertie","doi":"10.1002/mdc3.14289","DOIUrl":"10.1002/mdc3.14289","url":null,"abstract":"Background: KCNMA1-linked channelopathy is characterized by neurodevelopmental disorder, epileptic seizures and non-epileptic paroxysmal episodes.Objectives: To describe the phenotype of paroxysmal non-epileptic episodes related to KCNMA1 pathogenic variants.Methods: Videos of paroxysmal episodes were reviewed according to a standardized protocol by a group of movement disorders experts.Results: Fourteen videos were reviewed (6 previously published patients and a new patient). The typical pattern of an episode was (i) facial changes including dyskinetic movements of tongue and jaws (ii) behavioral arrest (iii) loss of postural reflexes that could be associated with focal body stiffness, eventually leading to fall (iv) rapid recovery without post-ictal drowsiness. Attacks were brief, with a high daily frequency, occasionally triggered by emotion, and dramatically improved by psychostimulant therapy in three patients.Conclusions: KCNMA1-related attacks are clearly distinguishable from paroxysmal dyskinesia, cataplexy or episodic ataxia indicating a unique phenomenological entity whose recognition will enhance accurate diagnosis and treatment.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"215-225"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Neurophysiological Features of Tremor during Walking in Parkinson's Disease. 帕金森病行走时震颤的神经生理特征。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-12-03 DOI: 10.1002/mdc3.14293

Matteo Costanzo, Francesco Marchet, Giorgio Leodori, Carolina Cutrona, Maria Ilenia De Bartolo, Giorgio Vivacqua, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli, Daniele Belvisi

{"title":"Neurophysiological Features of Tremor during Walking in Parkinson's Disease.","authors":"Matteo Costanzo, Francesco Marchet, Giorgio Leodori, Carolina Cutrona, Maria Ilenia De Bartolo, Giorgio Vivacqua, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli, Daniele Belvisi","doi":"10.1002/mdc3.14293","DOIUrl":"10.1002/mdc3.14293","url":null,"abstract":"Background: In Parkinson's Disease (PD), upper limb tremor during walking (TW) is observed and clinical observations suggest it may represent a variant of rest tremor. However, its neurophysiological characteristics remain unexplored.Objectives: This study compared the neurophysiological features of TW with other PD tremors and tested whether TW arises from reduced ipsilateral arm swing.Methods: Inertial measurement units were used to measure frequency and amplitude of tremors and arm swing during walking in 25 PD patients.Results: TW shared a similar frequency with rest and re-emergent tremor (RET) but showed significantly greater amplitude. A positive correlation was observed between the amplitude and frequency of TW with those of rest and RET on the same side. TW distribution was unrelated to reduced arm swing during walking, suggesting TW is not due to decreased ipsilateral arm movement.Conclusions: These findings suggest that walking may act as a provocation maneuver, triggering rest tremor.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"226-230"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Patient Perspectives on Upper-Limb Daily Function in Parkinson's Disease. 帕金森病患者对上肢日常功能的看法。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-11-19 DOI: 10.1002/mdc3.14277

Noa Cohen, Rachel Kizony

{"title":"Patient Perspectives on Upper-Limb Daily Function in Parkinson's Disease.","authors":"Noa Cohen, Rachel Kizony","doi":"10.1002/mdc3.14277","DOIUrl":"10.1002/mdc3.14277","url":null,"abstract":"Background: Dexterity impairments are common among people with Parkinson's disease (PWP), yet little is understood about the effect of upper-limb (UL) dysfunction on daily activity performance.Objectives: The aims were to (1) map the dexterity activities most affected and meaningful to PWP; (2) explore the associations between perceived dexterity function and disease severity, cognitive and motor UL impairments, dexterity ability, self-reported activities of daily living (ADL) function, and quality of life (QOL); (3) investigate variables explaining perceived dexterity function; and (4) examine the differences in perceived dexterity function based on dominance affectedness.Methods: A total of 43 PWP (mean age = 70.00 years, standard deviation [SD] = 6.75) were assessed for perceived dexterity function (36-item Dexterity Questionnaire [DextQ-36]), dexterity ability (Coin Rotation Task), disease severity (modified Hoen and Yahr Scale), self-reported ADL function and motor UL impairments (Movement Disorder Society-Unified Parkinson's Disease Rating Scale), cognition (Montreal Cognitive Assessment), and QOL (Parkinson's Disease Questionnaire-39).Results: The leading dexterity activities participants reported as difficult and meaningful included using a touchscreen, pulling on socks, and dialing a phone. Perceived dexterity significantly correlated with self-reported ADL function (r = 0.716), QOL (r = 0.691), disease severity (r = 0.470), and dominant-hand dexterity (r = 0.432). Dexterity ability and disease severity explained 30% of perceived dexterity variance. No differences in perceived dexterity function based on dominance affectedness were found.Conclusions: PWP encounter challenges in complex dexterity tasks that impact their independence. Before interventions focused on UL function are initiated, assessments of PWP should include inquiries about the meaningfulness of challenging dexterity activities.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"196-202"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

MR-Guided Focused Ultrasound for the Treatment of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome. 磁共振引导聚焦超声治疗脆性 X 相关震颤/共济失调综合征的震颤。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-11-21 DOI: 10.1002/mdc3.14270

Jesús García-de Soto, Jessica María Pouso-Diz, Gustavo Fernández-Pajarín, Paula Román-Pena, Amanda Álvarez-Noval, Miguel Blanco-Ulla, Eduardo Arán-Echabe, Begoña Ares, Ángel Sesar

引用次数: 0

Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum. VPS-16 基因突变导致的语音震颤：扩大临床范围。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-01 Epub Date: 2024-11-06 DOI: 10.1002/mdc3.14250

Saranya B Gomathy, Animesh Das, Jasmine Parihar, Rajesh Kumar Singh, Deepti Vibha, Manjari Tripathi

引用次数: 0