Journal of Movement Disorders最新文献

{"title":"Phenotypic Variability in ATP13A2 Mutations: The First Report of SPG78 From India.","authors":"Lakshmi Priya Lalitha, Asish Vijayaraghavan, Syam Krishnan","doi":"10.14802/jmd.25100","DOIUrl":"10.14802/jmd.25100","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"369-371"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528332","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}

{"title":"A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope.","authors":"Rania Zouari, Loua Hlioui, Mohamed Zakaria Saied, Dina Ben Mohamed, Samia Ben Sassi, Rim Amouri","doi":"10.14802/jmd.25106","DOIUrl":"10.14802/jmd.25106","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"375-378"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144674982","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}

{"title":"Subtyping of Parkinson's Disease by Longitudinal Trajectories of Levodopa Equivalent Daily Dose.","authors":"Young-Gun Lee, Kyoungwon Baik, Mincheol Park, Sung Woo Kang, So Hoon Yoon","doi":"10.14802/jmd.25099","DOIUrl":"10.14802/jmd.25099","url":null,"abstract":"<p><strong>Objective: </strong>Clinical heterogeneity exists in the optimal timing and dosage of symptomatic treatments for Parkinson's disease (PD). This study aimed to cluster PD patients on the basis of longitudinal trajectories of levodopa equivalent daily dose (LEDD) and evaluate the clinical features and progression associated with these clusters.</p><p><strong>Methods: </strong>From the Parkinson's Progression Markers Initiative database, we enrolled 301 PD patients who were followed up for at least 3 years after the initiation of antiparkinsonian medications. On the basis of the longitudinal trajectories of the LEDD increment, the participants were classified into three clusters: slow-increment, initial-increment, and rapid-increment. The outcomes were initial and longitudinal changes in motor phenotype, on-time motor symptoms, and the efficacy of antiparkinsonian medications.</p><p><strong>Results: </strong>The initial-increment cluster exhibited the greatest symptomatic improvements following the administration of higher doses of LEDD, although the motor improvement per unit of LEDD was comparable across clusters. Longitudinally, motor phenotypes changed rapidly in the initial-increment cluster. The initial-increment cluster showed continuous worsening of on-time motor symptoms, with limited LEDD efficacy. In contrast, the rapid-increment cluster exhibited stable on-time motor symptoms, whereas the efficacy of antiparkinsonian medications declined over time. The risk of disability related to walking and balance milestones and motor complications was twice as high in the initial-increment and rapid-increment clusters than in the slow-increment cluster.</p><p><strong>Conclusion: </strong>Heterogeneity is noted in the increase in the use of antiparkinsonian medications, which is driven by changes in motor phenotype, medication efficacy, and the occurrence of PD-relevant milestones. Subtyping patients on the basis of LEDD trajectories may provide insight into clinical heterogeneity for future research on individualized treatment strategies for patients with PD.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"317-326"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144674983","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}

{"title":"Cerebellar Ataxia Due to FGF14 GAA Repeat Expansion: First Southeast Asian Case and Novel Neuroimaging Features.","authors":"Akmal Mukhlis Abdul Sahak, Ai Huey Tan, Norlisah Ramli, Yi Wen Tay, Lei Cheng Lit, Jun Ping Chua, Roberta La Piana, David Pellerin, Shen-Yang Lim","doi":"10.14802/jmd.25163","DOIUrl":"10.14802/jmd.25163","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"382-384"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760356","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}

{"title":"Successful Treatment of a Patient With Tremors and Extensive Brain Lesions Using Posterior Subthalamic Area-Deep Brain Stimulation.","authors":"Taku Nonaka, Takashi Asahi, Shiro Horisawa, Kiyonobu Ikeda, Nobutaka Yamamoto, Takaomi Taira","doi":"10.14802/jmd.25096","DOIUrl":"10.14802/jmd.25096","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"372-374"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144642823","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}

{"title":"Retro-Walking and Cholinergic Network Correlates in Parkinson's Disease.","authors":"Alexis Griggs, Giulia Carli, Taylor Brown, Prabesh Kanel, Stiven Roytman, Chatkaew Pongmala, Miriam van Emde Boas, Nicolaas Ida Bohnen","doi":"10.14802/jmd.25109","DOIUrl":"10.14802/jmd.25109","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the cholinergic underpinnings of forward and retro-walking in patients with Parkinson's disease (PwP) using [18F]fluoroethoxybenzovesamicol ([18F]FEOBV) positron emission tomography (PET), which binds to the vesicular acetylcholine transporter.</p><p><strong>Methods: </strong>We retrospectively included 44 PwP who underwent [18F]FEOBV PET imaging and forward- and retro-walking gait assessments. Voxelwise correlation analyses were performed to examine associations between gait velocities and [18F]FEOBV binding, controlling for levodopa equivalent dose and disease duration. Linear regression and mediation analyses were used to investigate the contribution of postural instability and gait disorder symptoms-measured using MDS-UPDRS items and the Mini-Balance Evaluation Systems Test (MiniBESTest)-as well as cognitive performance (attention, memory, executive, language, and visuospatial domains) to the observed associations.</p><p><strong>Results: </strong>Slower retro-walking velocity was associated with lower [18F]FEOBV uptake in a subcortical-frontal-temporal cluster, including the bilateral middle frontal cortex, anterior cingulate, insula, basal forebrain, and striatal regions. No significant associations were found for forward walking time. Linear regression analyses revealed that MiniBESTest total score, reactive postural control subscore, and attention domain score were associated with both cholinergic uptake in the identified cluster and retro-walking velocities. Mediation analyses revealed that attention and reactive postural control mediated the relationship between [18F]FEOBV binding and retro-walking performance.</p><p><strong>Conclusion: </strong>Our findings indicate that retro-walking places greater demands on brain cholinergic synaptic integrity involving subcortical-frontal and temporal cortical regions, subserving balance-particularly reactive postural control-and attentional resources compared to forward walking. Our results suggest that retro-walking might serve as part of an intervention strategy to improve balance and cognition in PwP.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"337-346"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753599","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}

{"title":"The Role of Handedness and Extrainstrumental Burdens on the Course of Musicians' Dystonia.","authors":"Johanna Doll-Lee, Edoardo Passarotto, Eckart Altenmüller, André Lee","doi":"10.14802/jmd.25064","DOIUrl":"10.14802/jmd.25064","url":null,"abstract":"<p><strong>Objective: </strong>This study investigated the impact of extrainstrumental workload on musician's dystonia (MD) and its relationship with playing ability by testing whether dystonia onset is more severe in the dominant hand and whether improvement during treatment depends on which hand is affected, the dominant or nondominant.</p><p><strong>Methods: </strong>A total of 151 patients with dominant-hand MD and 92 with nondominant hand MD were assessed for their ability to play at dystonia onset (T0) and after treatment (T1).</p><p><strong>Results: </strong>There was no significant difference in playing ability at onset between the groups. Significant improvement and a greater change in playing ability were observed in the dominant-hand group. We found no difference in the proportional frequency of right-handed and left-handed individuals in the group of patients affected on the right or left side, respectively.</p><p><strong>Conclusion: </strong>These findings suggest that handedness does not influence MD localization, but the prognosis is more favorable for those with dominant hand dystonia, potentially due to metaplasticity effects.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"355-359"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302307","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}

{"title":"Atypical Imaging Findings in Corticobasal Syndrome: A Case Report.","authors":"Hyunji Kim, Seo Young Kang, Ji Young Yun, Jee Hyang Jeong","doi":"10.14802/jmd.25034","DOIUrl":"10.14802/jmd.25034","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"365-368"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144120024","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}

{"title":"Early-Onset Spastic Ataxia in a Patient With the Prion (PRNP) p.Val180Ile Variant.","authors":"Seungmin Lee, Dallah Yoo, Kyung-Sun Park, Tae-Beom Ahn","doi":"10.14802/jmd.25108","DOIUrl":"10.14802/jmd.25108","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"379-381"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144682682","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}

{"title":"Efficacy of Safinamide in Early-Stage Parkinson's Disease: A Pilot Evaluation of Motor Symptom Improvement.","authors":"Yun Su Hwang, Han Uk Ryu, Sang Yeon Kim, Hyun Goo Kang","doi":"10.14802/jmd.25176","DOIUrl":"10.14802/jmd.25176","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"393-395"},"PeriodicalIF":2.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144883016","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}