Journal of Movement Disorders最新文献

{"title":"Distinct Patterns of Perivascular Diffusivity and Choroid Plexus Volume in De Novo Parkinson's Disease and Type 2 Diabetes.","authors":"Yun Jung Bae, Chaewon Shin, Hyunjae Jeong, Se Jin Cho, Sung Hyun Baik, So Yeong Jeong, Da Hyun Lee, Younbeom Jeong, Jong-Min Kim","doi":"10.14802/jmd.26131","DOIUrl":"https://doi.org/10.14802/jmd.26131","url":null,"abstract":"<p><strong>Background: </strong>Alterations in perivascular fluid dynamics have been implicated in Parkinson's disease (PD) and metabolic disorders such as type 2 diabetes mellitus (T2DM). However, the relative contributions of neurodegenerative and metabolic conditions to functional perivascular water diffusivity versus structural neurofluid markers remain to be elucidated.</p><p><strong>Objectives: </strong>To investigate the differences in perivascular water diffusivity and structural neurofluid markers using diffusion tensor image-analysis along the perivascular space (DTI-ALPS), perivascular space (PVS) burden, and choroid plexus volume (CPV) in PD and T2DM.</p><p><strong>Methods: </strong>Consecutive patients with de novo PD and disease controls were included. Subjects were classified into four groups according to PD and T2DM status and matched for age and sex. The ALPS-index was derived from DTI, whereas PVS burden and CPV were quantified on three-dimensional T1-weighted images and normalized to intracranial volume.</p><p><strong>Results: </strong>A total of 127 subjects were included. The ALPS-index differed significantly among the four groups (P < 0.001), with both PD groups demonstrating significantly lower values than control groups, irrespective of T2DM status. Within the PD cohort, longer disease duration and older age were independently associated with lower ALPS-index values. CPV also differed significantly across groups (P = 0.006) with higher values observed only in controls with T2DM, while PVS burden did not differ significantly.</p><p><strong>Conclusions: </strong>In early-stage PD, impaired perivascular diffusivity was associated primarily with neurodegeneration, and no significant additive effect of T2DM was detected. Conversely, the increase in normalized CPV associated with T2DM was observed only in controls and not in PD, suggesting that metabolic and neurodegenerative conditions may differentially influence neurofluid markers.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148794332","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}

{"title":"Early improvement in depressive symptoms after pallidothalamic tract deep brain stimulation for drug-induced dystonia.","authors":"Esraa Shaban, Joseph Turner, Clemens Neudorfer, Kilsoo Kim, Yoshihiro Noda, Shiro Horisawa","doi":"10.14802/jmd.26125","DOIUrl":"https://doi.org/10.14802/jmd.26125","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148794297","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}

{"title":"Marked Improvement after Globus Pallidus Deep Brain Stimulation in Dystonia-24 with a Novel ANO3 Variant: A Case Report and Literature Review.","authors":"Masataka Yamashiro, Tomoyo Hashimoto, Ryosuke Miyamoto, Yasushi Miyagi, Konoka Tachibana, Yuishin Izumi, Kazumasa Okada","doi":"10.14802/jmd.26139","DOIUrl":"https://doi.org/10.14802/jmd.26139","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148578965","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}

{"title":"Progressive ataxia with palatal tremor in a patient carrying the prion protein gene M232R variation: a case report.","authors":"Hak-Loh Lee, Yeeun Sun, Han Kyu Na, Seok Jong Chung, Phil Hyu Lee","doi":"10.14802/jmd.26153","DOIUrl":"https://doi.org/10.14802/jmd.26153","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148578970","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}

{"title":"Disease course, survival, and genetic heterogeneity in chorea-acanthocytosis: a case series of 34 patients.","authors":"Aida Ghasemi, Elahe Amini, Ahmad Chitsaz, Gholamali Shahidi, Seyed Amir Hassan Habibi, Atieh Jafarabadi Ashtiani, Arezoo Farzi, Vadieh Ghodsinezhad, Afagh Alavi, Mohammad Rohani","doi":"10.14802/jmd.25350","DOIUrl":"https://doi.org/10.14802/jmd.25350","url":null,"abstract":"<p><strong>Objective: </strong>To quantify key disease milestones, particularly loss of ambulation and survival, and to describe the VPS13A variant spectrum and clinical heterogeneity in patients with chorea-acanthocytosis (ChA).</p><p><strong>Methods: </strong>We conducted a cross-sectional study of 34 ChA patients from 24 unrelated families. Whole-exome sequencing identified VPS13A variants in all probands. Clinical and paraclinical data were collected through neurological evaluations and electronic medical records. Patients were classified as either surviving (ambulatory or non-ambulatory) or deceased.</p><p><strong>Results: </strong>Twenty-one VPS13A variants were identified, including 12 novel variants. Median current age and disease duration were 38.5 (IQR, 34-43) and 8 (IQR, 4-12.25) years, respectively. Loss of ambulation occurred in 26.5% of patients after a median of 10 years (range, 5-16) from onset. Kaplan-Meier analysis estimated a median time to loss of ambulation of 16.0 years (95% CI, 8.8-23.2), with estimated ambulation probabilities of 87% at 6 years and 38% at 16 years. Seven patients died after a median disease duration of 10 years (range, 3-17). The median survival time was not reached during follow-up; the estimated restricted mean survival time was 16.7 years (95% CI, 14.1-19.3). Compulsions co-occurred with obsessions in all cases and were associated with higher rates of suicidal ideation, while insomnia was more frequent in patients without compulsions. Suicide and sepsis were the leading causes of death.</p><p><strong>Conclusions: </strong>This study defines the natural history of ChA, providing prognostic data on ambulation and survival. The discovery of novel VPS13A variants highlights genetic heterogeneity and supports further investigation into disease mechanisms and therapeutic targets.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148447558","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}

{"title":"Painful Dystonia After GPi-DBS for Post-Stroke Hemiballism in an Older Patient.","authors":"Daecheol Moon, Dallah Yoo, Chang Kyu Park, Tae-Beom Ahn","doi":"10.14802/jmd.26103","DOIUrl":"https://doi.org/10.14802/jmd.26103","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148447572","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}

{"title":"Successful Immunosuppressive Treatment of Spinal Segmental Myoclonus in GlyR Antibody-Associated Stiff-Person Spectrum Disorder/PERM Spectrum.","authors":"Yi Yang, Yuanhe Zhang, Pei Xiao, Ting Zeng, Xianwen Zhang, Yufeng Tang","doi":"10.14802/jmd.25331","DOIUrl":"10.14802/jmd.25331","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"334-336"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645608","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":"Associations Between the Vestibulo-Ocular Reflex and Cognitive Function in de novo Parkinson's Disease.","authors":"Mincheol Park, Hyun Joo Kim, Chan-Nyoung Lee, Kun-Woo Park, Sun-Uk Lee, Kyoungwon Baik","doi":"10.14802/jmd.25230","DOIUrl":"10.14802/jmd.25230","url":null,"abstract":"<p><strong>Objective: </strong>Vestibulo-ocular reflex (VOR) impairment has been reported in Parkinson's disease (PD). However, its clinical implications, particularly with respect to cognition, remain unclear. We investigated canal-specific VOR changes and their associations with cognitive function, motor symptoms, gaits, and dopamine transporter (DAT) uptake in de novo PD patients.</p><p><strong>Methods: </strong>We prospectively enrolled 127 patients with de novo PD who underwent video head-impulse tests (video-HITs), comprehensive neuropsychological assessments, gait analysis, and 18F-N-(3-fluoropropyl)-2β-carbon ethoxy-3β-(4-iodophenyl) nortropane positron emission tomography. Associations between VOR gains and the clinical characteristics of PD were evaluated using general linear models adjusted for age, sex, and education level. Cognitive analyses were performed after the patients were stratified into PD with normal cognition (PD-NC) and PD with mild cognitive impairment (PD-MCI) groups. Partial correlation analyses were performed to assess the relationships between VOR gains and regional DAT uptake.</p><p><strong>Results: </strong>Decreased VOR gain in at least one canal was observed in 22 patients (17.32%). Horizontal canal (HC) gain was positively associated with the Korean version of Montreal Cognitive Assessment score (p=0.040), and anterior canal (AC) gain was negatively associated with the base of support (p=0.018). The patterns of association between VOR gains and neuropsychological measures differed between the PD-NC and PD-MCI groups. In addition, VOR-cognition relationships were canal-specific: HC gain was positively related to visuospatial function, whereas AC and posterior canal gains were negatively related to language and frontal-executive functions. DAT uptake in the locus coeruleus was positively correlated with HC gain (p=0.020).</p><p><strong>Conclusion: </strong>VOR integrity is associated with cognitive and gait function in patients with PD. Video-HITs may serve as potential biomarkers for disease monitoring in PD patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"275-283"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147271374","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":"Improvement of Refractory Restless Legs Syndrome in a Parkinson's Disease Patient After Semaglutide Treatment: A Novel Clinical Observation.","authors":"Pasquale Maria Pecoraro, Silvia Lodico, Francesco Bugamelli, Martina Di Carluccio, Lazzaro di Biase","doi":"10.14802/jmd.26097","DOIUrl":"10.14802/jmd.26097","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"353-355"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148225968","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":"Hematopoietic Stem Cell Transplantation for CSF1R-Related Disorder: A Longitudinal Study of Efficacy and Safety.","authors":"Tomasz Chmiela, Kamila Żur-Wyrozumska, Patrycja Mensah-Glanowska, Audrey J Strongosky, Erik H Middlebrooks, Ernesto Ayala, Zbigniew K Wszolek","doi":"10.14802/jmd.26005","DOIUrl":"10.14802/jmd.26005","url":null,"abstract":"<p><strong>Objective: </strong>This longitudinal study evaluated the long-term efficacy and safety of hematopoietic stem cell transplantation (HSCT) in slowing the progression of CSF1R-related disorder (CSF1R-RD).</p><p><strong>Methods: </strong>Six symptomatic patients (mean follow-up, 6.6 years) were compared with six matched, untreated controls. The CSF1R Clinical Severity Score (CCSS), Montreal Cognitive Assessment, and Sundal radiological score were used for evaluation.</p><p><strong>Results: </strong>Post-HSCT clinical progression slowed significantly from 14.1 to 3.7 CCSS/year, compared with 15.2 CCSS/year in the control group (p<0.01). Cognitive decline was substantially reduced (-1.5 points/year vs. -7.6 points/year), and radiological deterioration slowed (0.4 per year vs. 3.9 per year). Notably, during the observation period, all HSCT patients survived, whereas 50% of the patients in the control group died. No serious transplant-related complications were observed.</p><p><strong>Conclusion: </strong>HSCT is a potent disease-modifying therapy for CSF1R-RD that drastically improves survival and slows deterioration. These findings underscore the necessity of early intervention during the symptomatic phase to maximize the preservation of quality of life for affected individuals.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"322-326"},"PeriodicalIF":4.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147306995","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}