{"title":"Expanding the Clinical Spectrum of ARSACS: An Atypical Adolescent-Onset Presentation with Compound Heterozygous SACS Variants.","authors":"Jun Ho Heo, Min Jeong Han, Yun Su Hwang","doi":"10.14802/jmd.26207","DOIUrl":"https://doi.org/10.14802/jmd.26207","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149165499","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":"Candidate neurobiological pathways linking physical exercise to cognition in Parkinson's disease: a hypothesis-generating translational framework.","authors":"Kyeongho Byun, Jee-Young Lee, Ryul Kim","doi":"10.14802/jmd.26260","DOIUrl":"https://doi.org/10.14802/jmd.26260","url":null,"abstract":"<p><p>Cognitive impairment is a major nonmotor symptom of Parkinson's disease (PD), yet effective strategies for preserving cognitive function remain limited. Although physical exercise may confer cognitive benefits, the biological pathways linking exercise to cognition in PD remain incompletely established. This narrative review presents a hypothesis-generating translational framework for 4 candidate mechanistic domains that may contribute to exercise-related cognitive effects in PD. First, exercise-responsive neurotrophic signaling, particularly through brain-derived neurotrophic factor-tropomyosin receptor kinase B, insulin-like growth factor 1, and vascular endothelial growth factor pathways, may support synaptic plasticity, neuronal survival, and neurovascular function. Second, exercise may modulate dopaminergic, cholinergic, and noradrenergic systems and influence corticostriatal plasticity relevant to cognitive function. Third, muscle-derived factors and exercise-induced metabolites may affect neurotrophic signaling, neuronal metabolism, and autophagy-lysosomal clearance of α-synuclein. Fourth, exercise may regulate systemic and central inflammatory responses through cytokine signaling, glial activation, inflammasome pathways, and complement-mediated synaptic remodeling. The evidence supporting these pathways is derived from basic, preclinical, observational, and exercise-intervention studies, but the strength of evidence varies considerably across stages of translation. Direct evidence that exercise-induced biological changes mediate cognitive improvement in patients with PD is lacking. These pathways should therefore be regarded as candidate mechanisms for hypothesis-driven investigation of the cognitive effects of exercise in PD.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149168181","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":"Targeting the Gut to Modify Parkinson's Disease: From Mechanisms to Potential Therapeutics.","authors":"Yi-Cheng Tai, Chin-Hsien Lin","doi":"10.14802/jmd.26285","DOIUrl":"https://doi.org/10.14802/jmd.26285","url":null,"abstract":"<p><p>Parkinson's disease (PD) is the second most common neurodegenerative disorder and its prevalence continues to rise with population aging. Its cardinal motor features arise from the loss of dopaminergic neurons in the substantia nigra, accompanied by intraneuronal α-synuclein aggregates known as Lewy bodies. Neuropathological evidence suggests that, in a subset of patients, α-synuclein pathology first appears in the enteric nervous system and ascends to the brain via the gut-brain axis. Consistent with this \"body-first\" trajectory, a growing body of work has documented distinct alterations in gut microbial composition and microbiota-derived metabolites in people with PD relative to healthy individuals, with some changes detectable in the prodromal phase. Current management, whether dopaminergic pharmacotherapy or deep brain stimulation, alleviates motor symptoms but does not slow neurodegeneration, and long-term treatment is complicated by motor fluctuations and other adverse effects. Therapies directed at the underlying disease process are therefore urgently needed. Because early perturbations of the gut microenvironment appear to contribute to PD pathogenesis, interventions that restore gut homeostasis represent a rational disease-modifying strategy, particularly for patients whose pathology originates in the gut. This review synthesizes current understanding of how the gut microbiota shapes the gut-brain axis in PD, spanning immune, metabolic, neuroendocrine, and neural pathways, and critically appraises the emerging evidence for microbiota-directed interventions, including fecal microbiota transplantation, probiotics, and prebiotics, as candidate disease-modifying therapies.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170043","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}
Herrero-Gracia Alba, Hernández-Andrés Rosa, Martín-González Santiago, Díez-Ajenjo M Amparo
{"title":"Home-based visual perceptual learning improves contrast sensitivity in Parkinson's disease: a proof-of-concept study.","authors":"Herrero-Gracia Alba, Hernández-Andrés Rosa, Martín-González Santiago, Díez-Ajenjo M Amparo","doi":"10.14802/jmd.26140","DOIUrl":"https://doi.org/10.14802/jmd.26140","url":null,"abstract":"<p><strong>Purpose: </strong>To assess whether visual perceptual learning (VPL) enhances contrast sensitivity function (CSF) in Parkinson's disease (PD); as a secondary exploratory aim, to describe whether the two protocols targeting different spatial frequency ranges produced differential effects.</p><p><strong>Methods: </strong>Seventeen patients with PD were randomized to two VPL protocols using dichoptic Gabor patch video-games for 30 minutes/day, six days/week, over 8 weeks. The M-H group trained at 8-16 cpd and the L-M group at 0.5-2 cpd. CSF was measured at baseline, 2, 4, and 8 weeks. BCVA and VIPD-Q were assessed at baseline and 8 weeks.</p><p><strong>Results: </strong>Significant progressive improvements in CSF were observed across all spatial frequencies and in the area under the log CSF curve from 1 month of training (p<0.001). VIPD-Q scores improved significantly in both groups (p=0.02 and p=0.008, respectively).</p><p><strong>Conclusions: </strong>Home based VPL was associated with significant improvements in CSF in PD; however, the absence of a control group means that these findings remain preliminary.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149109880","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}
Atefeh Irani, Kye Won Park, Farnaz Sedaghati, Michael Grundy, Maryam S Mirian, Reshad Hosseini, Hadi Moradi, Martin J McKeown
{"title":"Quantitative Assessment of Facial Expression Asymmetry in Parkinson's Disease.","authors":"Atefeh Irani, Kye Won Park, Farnaz Sedaghati, Michael Grundy, Maryam S Mirian, Reshad Hosseini, Hadi Moradi, Martin J McKeown","doi":"10.14802/jmd.26080","DOIUrl":"https://doi.org/10.14802/jmd.26080","url":null,"abstract":"<p><strong>Objective: </strong>Hypomimia, or reduced facial expressiveness, is a cardinal motor feature of Parkinson's disease (PD). Although limb motor symptoms in PD are characteristically asymmetric, whether facial hypomimia exhibits comparable asymmetry remains poorly understood. We investigated facial expression asymmetry in PD using AI-based computer vision and machine learning.</p><p><strong>Methods: </strong>Videos of instructed emotional facial expressions were collected from 101 individuals with PD and 94 healthy controls (HCs) across two independent cohorts. Facial landmarks were extracted to compute region-specific facial asymmetry indices. Static and dynamic features derived from these indices were compared between groups and used to train machine learning models for PD-HC discrimination, with each model trained and evaluated separately within each cohort. Facial mobility was additionally quantified for each hemiface as the summed velocity of landmark displacement to assess concordance with limb motor laterality.</p><p><strong>Results: </strong>Individuals with PD exhibited greater facial asymmetry than HCs, most prominently in the eyebrow and periocular regions during happy expressions (P = 0.01). Among participants with asymmetric limb parkinsonism, facial mobility was significantly reduced on the hemiface corresponding to the more affected limb (P = 0.002), indicating concordant facial-limb lateralization. Machine learning models trained on dynamic facial asymmetry features achieved up to 90.1% cross-validated accuracy in distinguishing PD from HCs. The models had comparable within-cohort performance on held-out test sets.</p><p><strong>Conclusions: </strong>Facial expression asymmetry is a measurable and lateralized feature of PD. Dynamic video-based analysis of facial asymmetry may offer an objective, scalable tool for assessing and monitoring facial motor function in PD.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149016578","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}
Dallah Yoo, Seong-Ik Kim, Sung-Hye Park, Jae-Kyung Won, Tae-Beom Ahn
{"title":"Progressive Supranuclear Palsy with Coexisting Chronic Traumatic Encephalopathy and Multiple Tauopathies in a Non-athlete with Recurrent Falls.","authors":"Dallah Yoo, Seong-Ik Kim, Sung-Hye Park, Jae-Kyung Won, Tae-Beom Ahn","doi":"10.14802/jmd.25252","DOIUrl":"https://doi.org/10.14802/jmd.25252","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012602","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":"Problematic Smartphone Use in Parkinson's Disease: Associations with Mood, Non-Motor Burden, and Impulsivity.","authors":"Müge Kuşoğlu, Mücahid Erdoğan, Banu Özen Barut","doi":"10.14802/jmd.26203","DOIUrl":"https://doi.org/10.14802/jmd.26203","url":null,"abstract":"<p><strong>Objective: </strong>To investigate problematic smartphone use and its associations with mood symptoms, impulsivity, and non-motor symptom burden in Parkinson's disease (PD).</p><p><strong>Methods: </strong>Forty-five patients with PD younger than 60 years and 43 matched healthy controls completed the Smartphone Addiction Scale, Beck Depression Inventory, and Beck Anxiety Inventory. Patients with PD additionally completed the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale. Clinical characteristics and MDS-UPDRS scores were assessed.</p><p><strong>Results: </strong>SAS scores were lower in PD than in controls. In PD, smartphone use was associated with depressive symptoms, anxiety, non-motor symptom burden, and impulsivity, although none remained independently associated in multivariable analysis. Positive Anticipation showed the strongest association with impulsivity. In controls, depressive symptoms were associated only with the Overuse and Cyberspace-Oriented Relationships subscales.</p><p><strong>Conclusion: </strong>Problematic smartphone use in PD appears to involve multiple behavioral dimensions, with overall use related to mood symptoms and reward-related use more closely linked to impulsivity.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840443","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}
Chae Jung Park, Yoonho Nam, Hyun-Jae Jeong, Han Kyu Na, Kyunghwa Han, Hye Sun Lee, Jun Hwee Kim, Seung-Koo Lee, Phil Hyu Lee, Yun Joong Kim, Young H Sohn, Seok Jong Chung
{"title":"Quantitative Analysis of Automatically Segmented Perivascular Space in Subcortical White Matter of Parkinson's Disease: Its Clinical Relevance.","authors":"Chae Jung Park, Yoonho Nam, Hyun-Jae Jeong, Han Kyu Na, Kyunghwa Han, Hye Sun Lee, Jun Hwee Kim, Seung-Koo Lee, Phil Hyu Lee, Yun Joong Kim, Young H Sohn, Seok Jong Chung","doi":"10.14802/jmd.26157","DOIUrl":"https://doi.org/10.14802/jmd.26157","url":null,"abstract":"<p><strong>Objective: </strong>To examine the relationship between automatically quantified perivascular space (PVS) extent located in the subcortical white matter (WM), baseline motor deficits and cognitive function, as well as longitudinal motor and cognitive outcomes in patients with Parkinson's disease (PD).</p><p><strong>Methods: </strong>This retrospective cohort study included 270 consecutive patients with newly diagnosed PD. Subcortical WM PVS was automatically segmented using high-resolution T2-weighted images, and automated PVS (aPVS) volume and count were calculated. Multivariate linear regression analyses evaluated the association between subcortical WM aPVS and baseline Unified PD Rating Scale Part III, Mini-Mental State Examination, and Montreal Cognitive Assessment scores. Cox regression models assessed the prognostic value of baseline subcortical WM aPVS for the risk of developing freezing of gait (FOG) and dementia.</p><p><strong>Results: </strong>Greater subcortical WM aPVS volume, particularly in the frontal and parietal regions, correlated with milder parkinsonian motor deficits and better global cognitive function at baseline. Higher subcortical WM aPVS volume, especially in the frontal region, was linked to a lower risk of FOG (hazard ratio (HR), 0.5; 95% confidence interval (CI), 0.2-0.9; p=0.028). Additionally, greater subcortical WM aPVS volume, especially in the occipital region, was associated with a reduced risk of dementia conversion (HR, 0.4; 95% CI, 0.1-1.0; p=0.041) in Cox regression models. Higher subcortical WM aPVS count was linked to better baseline motor symptoms, cognitive function, and lower risk of FOG.</p><p><strong>Conclusions: </strong>These findings indicate that larger subcortical WM aPVS volume or higher aPVS count can be an indicator of favorable clinical outcomes in PD.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":4.0,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840468","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":"Preliminary Reference Values for Dual-Task Gait Performance and Data-Driven Gait Profiles Across the Lifespan in Healthy Korean Adults.","authors":"Bora Jin, Seungho Lee, Sang-Myung Cheon","doi":"10.14802/jmd.26105","DOIUrl":"https://doi.org/10.14802/jmd.26105","url":null,"abstract":"<p><strong>Objectives: </strong>Understanding normal gait characteristics is fundamental for characterizing disease-specific gait alterations. This study aimed to evaluate age-related differences in gait across various task conditions and identify data-driven gait profiles based on dual-task vulnerability in healthy Korean adults.</p><p><strong>Methods: </strong>A cross-sectional gait assessment was conducted using GAITRite® under four conditions: preferred speed, serial sevens subtraction, cell phone use, and backward walking. Gait parameters were categorized into five domains: pace, variability, rhythm, asymmetry, and postural control. Participants were stratified into younger (<60 years) and older adults (≥60 years). Latent profile analysis (LPA) was performed using the dual-task cost variables to identify data-driven gait profiles.</p><p><strong>Results: </strong>Ninety-eight healthy adults (aged 23-87 years) were analyzed. Age-related differences were most pronounced during cell phone use, which was supported by significant age × task interaction effects across the pace, variability, rhythm, and postural control domains (pfdr < 0.05). LPA identified three profiles: Pace-Preserved (Pa-P), Asymmetry-Dominant (Asym-D), and Postural control-Dominant (Pc-D). Younger adults were evenly distributed across the profiles, whereas older adults were predominantly classified into the Asym-D and Pc-D profiles. The Asym-D profile, characterized by the highest mean age, exhibited numerically lower cognitive scores, particularly in the visuospatial domain.</p><p><strong>Conclusions: </strong>Regardless of chronological age groups and data-driven profiles, dual-task gait interference was most pronounced in the cognitive-motor dual-task condition. Data-driven profiling also identified a subgroup characterized by gait asymmetry, older age, and lower cognitive scores, suggesting a potentially distinct cognitive-motor pattern that warrants longitudinal investigation. These preliminary reference values provide a valuable foundation for the identification of pathological gait patterns in clinical populations.</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":"148794323","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}