Movement Disorders最新文献

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Essential Tremor Suppression with a Novel Anti-Tremor Orthosis: A Randomized Crossover Trial 一种新型抗震颤矫形器抑制特发性震颤:一项随机交叉试验。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-21 DOI: 10.1002/mds.30082
Winfred Mugge PhD, Liset E.M. Elstgeest PhD, Milan van Ginkel MSc, Lucas Pol BSc, IJsbrand de Lange MSc, Nicola Pambakian MSc, Alvaro Assis de Souza MSc, Rick C. Helmich MD, PhD, Daan J. Kamphuis MD
{"title":"Essential Tremor Suppression with a Novel Anti-Tremor Orthosis: A Randomized Crossover Trial","authors":"Winfred Mugge PhD,&nbsp;Liset E.M. Elstgeest PhD,&nbsp;Milan van Ginkel MSc,&nbsp;Lucas Pol BSc,&nbsp;IJsbrand de Lange MSc,&nbsp;Nicola Pambakian MSc,&nbsp;Alvaro Assis de Souza MSc,&nbsp;Rick C. Helmich MD, PhD,&nbsp;Daan J. Kamphuis MD","doi":"10.1002/mds.30082","DOIUrl":"10.1002/mds.30082","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Essential tremor (ET) is characterized by action tremor of the arms, which can interfere substantially with daily activities. Pharmacotherapy may be ineffective or associated with side effects, and stereotactic surgery is invasive. Hence, new accessible treatment options are urgently needed. An easy-to-use and lightweight orthotic device that exerts joint damping may provide an alternative solution for reducing tremor in daily activities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Our goal was to assess the efficacy of a novel anti-tremor orthosis (STIL) in reducing clinical and accelerometry measures of distal arm tremor in ET.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In a randomized crossover single-blinded trial in 24 ET patients in a hospital setting, we compared three conditions: no orthosis (baseline), a sham device, and the anti-tremor orthosis (order randomized). The orthosis, but not the sham device, passively damped joints in the forearm. Participants performed seven tasks from the Tremor Research Group Essential Tremor Rating Scale (TETRAS). The two co-primary outcome measures were: clinical tremor severity (video-scored TETRAS) and tremor power (accelerometry). Patient satisfaction was self-assessed using the Dutch Quebec User Evaluation of Satisfaction with assistive Technology. Conditions were compared using Wilcoxon signed-rank tests.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The anti-tremor orthosis significantly reduced TETRAS scores compared to sham and baseline (baseline: 19.0 ± 3.2, sham: 13.7 ± 3.9, orthosis: 9.9 ± 3.6; mean ± standard deviation). Similar effects were observed for tremor power, which was reduced by 87.4% (orthosis vs. baseline) and 59.5% (orthosis vs. sham) across all tasks. A total of 71% of participants were (very) satisfied and 12.5% reported minor adverse events (discomfort/redness of skin).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The anti-tremor orthosis had a clinically relevant tremor-reducing effect in ET in a controlled setting, offering potential for a new treatment to manage ET in daily activities. © 2025 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"445-455"},"PeriodicalIF":7.4,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142997026","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
An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene 听力损失家族与BCAP31基因新变异相关的X连锁共济失调综合征
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-01-20 DOI: 10.1002/mds.30116
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson
{"title":"An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene","authors":"Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson","doi":"10.1002/mds.30116","DOIUrl":"https://doi.org/10.1002/mds.30116","url":null,"abstract":"ObjectivePathogenic variants in B‐cell receptor‐associated protein (<jats:italic>BCAP31)</jats:italic> are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. <jats:italic>BCAP31</jats:italic> encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca<jats:sup>2+</jats:sup>) concentration. Here, we characterize an X‐linked syndrome, its underlying genotype, and a functional evaluation of the identified candidate genetic variant.MethodsEvaluation of motor features, neuroimaging studies, neurophysiological, and cognitive tests. Whole exome sequencing (WES) was applied, a plasmid encoding <jats:italic>BCAP31</jats:italic> with and without a candidate variant was transfected into SH‐SY5Y cells to assess subcellular location and to measure Ca<jats:sup>2+</jats:sup> levels in the cytoplasm.ResultsAdult‐onset ataxia, cognitive impairment, and hearing loss leading to deafness are the predominant features. Reduced penetrance, slow progression with preserved ability to walk in advance age, and universal cerebellar atrophy are other features for this syndrome. This condition is associated with the new variant c.22G&gt;A (V8I) in <jats:italic>BCAP31</jats:italic> at Xq28. The subcellular location of the V8I BCAP31 protein was not altered but caused significant elevation of cytosolic Ca<jats:sup>2+</jats:sup>.ConclusionsOur findings expand the spectrum of variants in <jats:italic>BCAP31</jats:italic> from neurodevelopmental syndromes to include a progressive neurodegenerative disease with variable expressivity. This is the first time ataxia is described in association with a <jats:italic>BCAP31</jats:italic> variant and functional evidence of pathogenicity is provided. Additional <jats:italic>BCAP31</jats:italic> cases featuring ataxia are needed to establish an association. © 2025 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":"6 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142991469","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
It Takes Guts: A Novel Model for Gut-to-Brain Propagation of Alpha-Synuclein and Tau 需要勇气:一种新的α -突触核蛋白和Tau蛋白从肠道到大脑的传播模型
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-18 DOI: 10.1002/mds.30124
Kasandra Scholz BS, Talene A. Yacoubian MD, PhD
{"title":"It Takes Guts: A Novel Model for Gut-to-Brain Propagation of Alpha-Synuclein and Tau","authors":"Kasandra Scholz BS,&nbsp;Talene A. Yacoubian MD, PhD","doi":"10.1002/mds.30124","DOIUrl":"10.1002/mds.30124","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"241-242"},"PeriodicalIF":7.4,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142988846","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
Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients. 静态姿势不稳定作为3型脊髓小脑性共济失调前运动异常的敏感生物标志物。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-01-18 DOI: 10.1002/mds.30118
Mao-Lin Cui,Xia-Hua Liu,Ying Li,Wei Lin,Hao-Ling Xu,Nan-Nan Zhang,Min-Ting Lin,Ning Wang,Jun Ni,Shi-Rui Gan,
{"title":"Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients.","authors":"Mao-Lin Cui,Xia-Hua Liu,Ying Li,Wei Lin,Hao-Ling Xu,Nan-Nan Zhang,Min-Ting Lin,Ning Wang,Jun Ni,Shi-Rui Gan,","doi":"10.1002/mds.30118","DOIUrl":"https://doi.org/10.1002/mds.30118","url":null,"abstract":"BACKGROUNDSpinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients.OBJECTIVESOur research aims to identify appropriate postural characteristics for tracking motor changes in pre-ataxic patients with SCA3 over time.METHODSThe posturographic platform assessed 102 participants (34 pre-ataxic SCA3 patients, 34 ataxic patients with SCA3, and 34 healthy controls) to measure their postural balance. Multivariate comparative analyses assessed the differential postural characteristics across the three groups. The Taiwanese formula was employed to estimate the age of onset for pre-ataxic patients. A Spearman's rho test was employed to assess correlations between postural characteristics and the time manifestation for pre-ataxic patients.RESULTSCompared to the healthy control group, we observed significant abnormalities in the static posture of pre-ataxic patients (P < 0.01). Compared to the pre-ataxic group, ataxic patients have significant abnormalities in all variables (P < 0.05). The sway range standard deviation (SD), total sway area, and limits of stability were positively correlated with the estimated time to onset. The total sway area is more closely associated with time to manifestation, whereas the sway range SD in the medial-lateral direction of the center of foot pressure is the most sensitive indicator of postural instability in pre-ataxic patients.CONCLUSIONStatic posture instability is a sensitive diagnostic parameter that may assist in capturing disease progression in the pre-ataxic stage of SCA3. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"516 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142989782","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
Central Involvement in Pure Autonomic Failure: Insights from Neuromelanin‐Sensitive Magnetic Resonance Imaging and 18F‐Fluorodopa‐Positron Emission Tomography 中枢参与纯粹自主神经衰竭:来自神经黑色素敏感磁共振成像和18F -氟多巴-正电子发射断层扫描的见解
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-01-18 DOI: 10.1002/mds.30119
Paula Trujillo, Kaitlyn R. O'Rourke, Olivia C. Roman, Alexander K. Song, Kilian Hett, Amy Cooper, Bonnie K. Black, Manus J. Donahue, Cyndya A. Shibao, Italo Biaggioni, Daniel O. Claassen
{"title":"Central Involvement in Pure Autonomic Failure: Insights from Neuromelanin‐Sensitive Magnetic Resonance Imaging and 18F‐Fluorodopa‐Positron Emission Tomography","authors":"Paula Trujillo, Kaitlyn R. O'Rourke, Olivia C. Roman, Alexander K. Song, Kilian Hett, Amy Cooper, Bonnie K. Black, Manus J. Donahue, Cyndya A. Shibao, Italo Biaggioni, Daniel O. Claassen","doi":"10.1002/mds.30119","DOIUrl":"https://doi.org/10.1002/mds.30119","url":null,"abstract":"BackgroundCentral synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), involve alpha‐synuclein accumulation and dopaminergic cell loss in the substantia nigra (SN) and locus coeruleus (LC). Pure autonomic failure (PAF), a peripheral synucleinopathy, often precedes central synucleinopathies.ObjectivesTo assess early brain involvement in PAF using neuromelanin‐sensitive magnetic resonance imaging (NM‐MRI) and fluorodopa‐positron emission tomography (FDOPA‐PET), and to determine whether PAF patients with a high likelihood ratio (LR) for conversion to a central synucleinopathy exhibit reduced NM‐MRI contrast in the LC and SN compared with controls and low‐LR patients.MethodsParticipants with PAF (<jats:italic>n</jats:italic> = 23) were categorized as high‐LR (<jats:italic>n</jats:italic> = 13) or low‐LR (<jats:italic>n</jats:italic> = 10) for conversion to central synucleinopathy. Additional participants included PD (<jats:italic>n</jats:italic> = 22), DLB (<jats:italic>n</jats:italic> = 8), and age‐ and sex‐matched healthy controls (<jats:italic>n</jats:italic> = 23). NM‐MRI at 3 T was used to quantify contrast ratios in the LC and SN, while FDOPA‐PET measured presynaptic dopamine synthesis. Linear regression analyses, adjusted for age and sex, were used to compare NM‐MRI contrast across groups.ResultsHigh‐LR PAF patients showed reduced contrast in the LC and SN compared with controls and low‐LR PAF patients, with values similar to PD and DLB. The NM‐MRI contrast in the SN correlated with dopamine uptake in the striatum. Longitudinal imaging in PAF patients (<jats:italic>n</jats:italic> = 6) demonstrated reduced NM‐MRI and PET values in individuals who developed central synucleinopathies.ConclusionsNM‐MRI and FDOPA‐PET may serve as potential biomarkers for early brain involvement and predicting progression to central synucleinopathies in PAF and could help identify patients for early intervention. © 2025 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":"30 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142988845","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
Magnetic Resonance–Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse 磁共振引导的聚焦超声丘脑切开术对52名帕金森病患者的前瞻性队列:年龄和病变体积可能在预测震颤复发方面发挥关键作用
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-18 DOI: 10.1002/mds.30093
Arianna Braccia MD, Nico Golfrè Andreasi MD, Francesco Ghielmetti MSc, Domenico Aquino MSc, Anna Paola Savoldi MD, Roberto Cilia MD, Roberta Telese MD, Fabiana Colucci MD, Gianfranco Gaudiano MD, Luigi Michele Romito PhD, Antonio Emanuele Elia PhD, Valentina Leta PhD, Vincenzo Levi MD, Nicolò Castelli MD, Grazia Devigili PhD, Sara Rinaldo MSc, Mario Stanziano MD, Valentina Caldiera MD, Marina Grisoli MD, Elisa Francesca Maria Ciceri MD, Roberto Eleopra MD
{"title":"Magnetic Resonance–Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse","authors":"Arianna Braccia MD,&nbsp;Nico Golfrè Andreasi MD,&nbsp;Francesco Ghielmetti MSc,&nbsp;Domenico Aquino MSc,&nbsp;Anna Paola Savoldi MD,&nbsp;Roberto Cilia MD,&nbsp;Roberta Telese MD,&nbsp;Fabiana Colucci MD,&nbsp;Gianfranco Gaudiano MD,&nbsp;Luigi Michele Romito PhD,&nbsp;Antonio Emanuele Elia PhD,&nbsp;Valentina Leta PhD,&nbsp;Vincenzo Levi MD,&nbsp;Nicolò Castelli MD,&nbsp;Grazia Devigili PhD,&nbsp;Sara Rinaldo MSc,&nbsp;Mario Stanziano MD,&nbsp;Valentina Caldiera MD,&nbsp;Marina Grisoli MD,&nbsp;Elisa Francesca Maria Ciceri MD,&nbsp;Roberto Eleopra MD","doi":"10.1002/mds.30093","DOIUrl":"10.1002/mds.30093","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Magnetic resonance–guided focused ultrasound (MRgFUS) thalamotomy of ventral intermediate (Vim) nucleus is useful to treat drug-resistant tremor-dominant Parkinson's disease (TdPD), but tremor relapse may occur. Predictors of relapse have been poorly investigated so far.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of this study is to evaluate the role of clinico-demographic, procedural, and neuroradiological variables in determining clinical response, relapse, and adverse events (AEs) in TdPD after MRgFUS Vim-thalamotomy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fifty-two TdPD patients who consecutively underwent unilateral MRgFUS Vim-thalamotomy were prospectively evaluated at baseline and after 24 hours, 1 month, 6 months, and 12 months using MDS-UPDRS-III in <i>off</i> and <i>on</i> medication conditions. AEs were collected at each evaluation. Lesion volume was calculated at 24-hour magnetic resonance imaging (MRI). Patients with tremor improvement &lt;30% in <i>off</i> medication were considered nonresponders (when detected after 24 hours) or relapsers (if detected from 1-month visit onward).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All patients showed tremor improvement &gt;30% at 24 hours. Tremor relapse occurred in 12 patients (23%), exclusively during the first month after thalamotomy. Relapse was associated with younger age (<i>P</i> = 0.030) and smaller lesion volume (<i>P</i> = 0.030). At 1 month, 22 patients (42%) had AEs; at 6 and 12 months, AEs persisted in 19% and 6% of cases. AEs at 6 months were associated with larger lesions (<i>P</i> = 0.018). All AEs were mild.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>MRgFUS Vim-thalamotomy is effective in treating tremor in TdPD. Relapse is associated with younger age and smaller lesion volume, but larger lesions make AEs more likely to persist. We suggest that a lesion volume between 145 and 220 mm<sup>3</sup> on T1-weighted MRI may be the therapeutic window that ensures tremor control without long-lasting AEs. © 2025 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"478-489"},"PeriodicalIF":7.4,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142988842","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
New Multiomic Studies Shed Light on Cellular Diversity and Neuronal Susceptibility in Parkinson's Disease 新的多组学研究揭示了帕金森病的细胞多样性和神经元易感性。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-15 DOI: 10.1002/mds.30097
Marianna Liang BS, Linh Chu BA, Zhenyu Yue PhD
{"title":"New Multiomic Studies Shed Light on Cellular Diversity and Neuronal Susceptibility in Parkinson's Disease","authors":"Marianna Liang BS,&nbsp;Linh Chu BA,&nbsp;Zhenyu Yue PhD","doi":"10.1002/mds.30097","DOIUrl":"10.1002/mds.30097","url":null,"abstract":"<p>Parkinson's disease is a complex neurodegenerative disorder characterized by degeneration of dopaminergic neurons, with patients manifesting varying motor and nonmotor symptoms. Previous studies using single-cell RNA sequencing in rodent models and humans have identified distinct heterogeneity of neurons and glial cells with differential vulnerability. Recent studies have increasingly leveraged multiomics approaches, including spatial transcriptomics, epigenomics, and proteomics, in the study of Parkinson's disease, providing new insights into pathogenic mechanisms. Continued advancements in experimental technologies and sophisticated computational tools will be essential in uncovering a network of neuronal vulnerability and prioritizing disease modifiers for novel therapeutics development. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"431-437"},"PeriodicalIF":7.4,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982087","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
Step Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results. 步宽触觉反馈对脊髓小脑性共济失调患者步态稳定性的影响:初步结果。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-13 DOI: 10.1002/mds.30117
Hong Wang, Zakir Ullah, Eran Gazit, Marina Brozgol, Jeffrey M Hausdorff, Peter B Shull, Penina Ponger
{"title":"Step Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results.","authors":"Hong Wang, Zakir Ullah, Eran Gazit, Marina Brozgol, Jeffrey M Hausdorff, Peter B Shull, Penina Ponger","doi":"10.1002/mds.30117","DOIUrl":"https://doi.org/10.1002/mds.30117","url":null,"abstract":"<p><strong>Background: </strong>Wider step width and lower step-to-step variability are linked to improved gait stability and reduced fall risk. It is unclear if patients with spinocerebellar ataxia (SCA) can learn to adjust these aspects of gait to reduce fall risk.</p><p><strong>Objectives: </strong>The aims were to examine the possibility of using wearable step width haptic biofeedback to enhance gait stability and reduce fall risk in individuals with SCA.</p><p><strong>Methods: </strong>Thirteen people with SCA type 3 performed step width training (single session) using real-time feedback.</p><p><strong>Results: </strong>Step width increased post-training (19.3 cm, interquartile range [IQR] 16.3-20.2 cm) and at retention (16.6 cm, IQR 16.2-21.1 cm), compared to baseline (11.0 cm, IQR 5.2-15.2 cm; P < 0.001). Step width variability decreased during post-training (19.7%, IQR 17.4%-26.2%) and at retention (22.3%, IQR 18.6%-30.2%), compared to baseline (44.5%, IQR 28.5%-71.2%; P < 0.001). Crossover steps, another mark of instability, decreased after training (P < 0.031).</p><p><strong>Conclusions: </strong>These pilot results suggest that patients with SCA can use a novel, wearable biofeedback system to improve their gait stability. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142968816","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
Reply to: “Neutrophil-Rich Infusion Site Reactions after Continuous Subcutaneous Application of Foslevodopa/Foscarbidopa” 回复:“连续皮下应用Foslevodopa/Foscarbidopa后的富中性粒细胞输注部位反应”
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-11 DOI: 10.1002/mds.30120
Nagisa Yoshihara MD, PhD, Rei Watanabe MD, PhD, Noriko Nishikawa MD, PhD, Nobutaka Hattori MD, PhD
{"title":"Reply to: “Neutrophil-Rich Infusion Site Reactions after Continuous Subcutaneous Application of Foslevodopa/Foscarbidopa”","authors":"Nagisa Yoshihara MD, PhD,&nbsp;Rei Watanabe MD, PhD,&nbsp;Noriko Nishikawa MD, PhD,&nbsp;Nobutaka Hattori MD, PhD","doi":"10.1002/mds.30120","DOIUrl":"10.1002/mds.30120","url":null,"abstract":"&lt;p&gt;We extend our gratitude to Dr. Weise and colleagues for their insightful comments regarding our manuscript published in &lt;i&gt;Movement Disorders&lt;/i&gt;. We greatly appreciate their consideration of additional adverse skin reactions caused by foslevodopa-foscarbidopa (LDP/CDP). In response, we would like to clarify the following points.&lt;/p&gt;&lt;p&gt;The case reported by Dr. Weise (similar to the case we reported in our study) involved a clinical finding of a dome-shaped nodule accompanied by tenderness, and pathological findings revealed inflammation observed from the deep dermis to the subcutaneous panniculitis. The difference between our cases is that the inflammatory cell infiltration observed in Dr. Weise's case mainly involved neutrophils and that observed in our case mainly involved lymphocytes. This difference is thought to be due to the differences in findings depending on the stage of panniculitis. In erythema nodosum and erythema induratum of Bazin, which are representative conditions of panniculitis, infiltrative inflammatory cells include lymphocytes, histiocytes, and neutrophils; in particular, in early lesions, the infiltration of inflammatory cells, which are mainly composed of neutrophils, is observed.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; According to a review of factitial panniculitis, which is a subcutaneous tissue injury caused by various injections, neutrophilic panniculitis is observed in the acute phase. Lymphocytic infiltration is observed in the later phase.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; Because the cause of skin disorders induced by LDP/CDP is unknown, this difference in inflammatory cell infiltration is fascinating, and we would like to reexamine the pathological findings in more cases to understand the pathology of this disorder.&lt;/p&gt;&lt;p&gt;Based on the results of clinical trials of LDP/CDP, the most frequent adverse events on the skin have been reported to be “injection site erythema,” “injection site pain,” and “cellulitis.”&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; In our experience with actual cases, skin disorders can be generally divided into three manifestations: injection site erythema, injection site nodules, and injection site cellulitis. Injection site erythema is a skin reaction that occurs when LDP/CDP cannot be injected perpendicular to the skin surface, and we hypothesize that this skin reaction can be avoided by providing injection instructions. Additionally, injection site nodules are thought to be manifestations of panniculitis caused by irritation from the drug. Injection site cellulitis is associated with secondary infection due to the injection procedure, and the clinical findings are similar to those of the aforementioned findings of panniculitis; therefore, evaluating the presence or absence of the inflammatory findings in blood tests is necessary. However, we believe this outcome can be avoided by performing clean procedures. We believe that the accumulation and examination of cases are necessary to develop treatment strategies based to a greate","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"391-392"},"PeriodicalIF":7.4,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30120","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142961449","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
Neutrophil-Rich Infusion Site Reactions After Continuous Subcutaneous Application of Foslevodopa/Foscarbidopa 连续皮下应用Foslevodopa/Foscarbidopa后的富中性粒细胞输注部位反应
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-01-11 DOI: 10.1002/mds.30121
David Weise MD, Sebastian Haferkamp MD, PhD
{"title":"Neutrophil-Rich Infusion Site Reactions After Continuous Subcutaneous Application of Foslevodopa/Foscarbidopa","authors":"David Weise MD,&nbsp;Sebastian Haferkamp MD, PhD","doi":"10.1002/mds.30121","DOIUrl":"10.1002/mds.30121","url":null,"abstract":"&lt;p&gt;We read with great interest the article by Yoshihara et al.,&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; which provides insight into histopathologic features of cutaneous side effects caused by continuous subcutaneous injection of foslevodopa/foscarbidopa. Using a similar approach, we analyzed skin biopsies from two female patients with Parkinson's disease (PD) who developed an inflammatory injection site reaction 11 and 13 weeks, respectively, after initiating subcutaneous treatment with foslevodopa/foscarbidopa. Notably, our histopathologic findings differ from those reported by Yoshihara et al., revealing a neutrophil-rich inflammatory infiltrate.&lt;/p&gt;&lt;p&gt;Akinetic-rigid type, disease duration 24 years, Hoen and Yahr scale (H&amp;Y) 4 ON, 5 OFF with severe motor fluctuations and dyskinesia, optic hallucinations and PD dementia, previously treated with continuous subcutaneous apomorphine for 3 years, immediate change to foslevodopa/foscarbidopa due to not well-controlled motor fluctuations and increasing optic hallucinations and delusion. Good improvement of motor fluctuations and dyskinesia. After 13 weeks of treatment (foslevodopa total dose 2592 mg, day rate 0.50 mL/hr, night rate 0.35 mL/hr, cannula change frequency [initially] 3 days) an oval, tender, poorly demarked, dome-shaped, erythematous swelling was noted around the infusion site (Fig. 1A,B). Patient denied itching or pain.&lt;/p&gt;&lt;p&gt;Akinetic-rigid type, disease duration 15 years, H&amp;Y 3 ON, 5 OFF with severe motor fluctuations and severe dyskinesia, previously treated with continuous subcutaneous apomorphine for 6 months (cessation due to insufficient improvement of fluctuations and persistent nausea), start of foslevodopa/foscarbidopa 8 months later with very good improvement of motor fluctuations and dyskinesia. She developed a painless, oval, poorly demarked, erythematous plaque measuring 5 cm in diameter after 11 weeks of treatment (foslevodopa total dose 2861 mg, day rate 0.52 mL/hr, night rate 0.45 mL/hr, cannula change frequency 2 days, relevant concomitant medication with opicapone 50 mg 1×/day).&lt;/p&gt;&lt;p&gt;Histopathologic examination of both cases revealed a patchy inflammatory infiltrate in the deep dermis extending into the subcutaneous tissue, composed primarily of neutrophils mixed with lymphocytes and a few eosinophils (Fig. 1C,D). In contrast to our findings, Yoshihara et al. described the adverse skin reactions as lymphocyte-dominant inflammatory infiltrates in the adipose tissue. Interestingly, an eosinophil-rich panniculitis has been observed in response to subcutaneously administered apomorphine,&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; suggesting that the cellular components of immune responses to subcutaneous drug application may vary significantly. This notion is supported by the fact that a broad clinical spectrum of cutaneous side effects, including erythema, edema, cellulitis, panniculitis, subcutaneous nodule formation, and abscess formation, has been reported for both subcutaneous treatment regi","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"389-390"},"PeriodicalIF":7.4,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30121","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142961438","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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