Journal of Movement Disorders最新文献

{"title":"Factors associated with response to exercise in patients with Parkinson's disease.","authors":"Myung Jun Lee, Jinse Park, Dong-Woo Ryu, Dallah Yoo, Sang-Myung Cheon","doi":"10.14802/jmd.25068","DOIUrl":"https://doi.org/10.14802/jmd.25068","url":null,"abstract":"<p><strong>Introduction: </strong>Exercises have been proposed as adjuvants for the treatment of Parkinson's disease (PD); however, responses to exercise interventions have shown inconsistent results. We investigated clinical factors associated with improvements in motor deficits after exercise.</p><p><strong>Methods: </strong>85 PD patients were enrolled from five tertiary hospitals and classified into four exercise groups: home exercises, strength training, Tai Chi, and yoga. Clinical measurements of the motor and non-motor features of PD were assessed at baseline and 12 weeks after the exercise intervention. We employed principal component analysis (PCA) to reduce variables into ten factors and then examined associations of baseline characteristics with percentage improvement in the Movement Disorder Society Unified Parkinson's Disease Rating Scale part III (MDS-UPDRS III) using the Bayesian regression model.</p><p><strong>Results: </strong>In the multivariate Bayesian regression model including ten PCA-driven factors, the percentage improvement of the MDS-UPDRS III was associated with factors including prominent motor deficits (posterior interval; mean ± SD, - 3.9 ± 1.7) and non-motor symptoms such as depression, anxiety, and subjective memory impairment (2.5 ± 1.5). Another factor related to functional impairments in gait and postural control was associated with less improvement after the exercise intervention (3.3 ± 1.7). In the subgroup analyses, motor features were associated with improvement in the home exercise and strength training groups, whereas mood disturbance, fatigue, and subjective cognitive impairment were related to changes in the home exercise and Tai Chi groups.</p><p><strong>Conclusion: </strong>Our results suggest that individual phenotypes of PD patients may be associated with clinical improvement following exercise.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078399","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":"A Chinese Child With Dystonia Linked to the EIF2AK2 Missense Variant: A Case Report.","authors":"Lifang Dai, Changhong Ren, Shenghan Guan, Xiaojuan Tian, Hui Xiong, Changhong Ding","doi":"10.14802/jmd.24215","DOIUrl":"10.14802/jmd.24215","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"190-192"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458341","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":"Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia.","authors":"Wei-Sheng Wang, Yu-Ping Chiu, Meng-Han Tsai, Shey-Lin Wu, Yen-Chung Chen","doi":"10.14802/jmd.24202","DOIUrl":"10.14802/jmd.24202","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"182-184"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006941","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":"Drug Repositioning and Repurposing for Disease-Modifying Effects in Parkinson's Disease.","authors":"Seong Ho Jeong, Phil Hyu Lee","doi":"10.14802/jmd.25008","DOIUrl":"10.14802/jmd.25008","url":null,"abstract":"<p><p>Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder and is characterized by progressive dopaminergic and nondopaminergic neuronal loss and the presence of Lewy bodies, which are primarily composed of aggregated α-synuclein. Despite advancements in symptomatic therapies, such as dopamine replacement and deep brain stimulation, no disease-modifying therapies (DMTs) have been identified to slow or arrest neurodegeneration in patients with PD. Challenges in DMT development include disease heterogeneity, the absence of reliable biomarkers, and the multifaceted pathophysiology of PD, encompassing neuroinflammation, mitochondrial dysfunction, lysosomal impairment, and oxidative stress. Drug repositioning and repurposing strategies using existing drugs for new therapeutic applications offer promising approaches to accelerate the development of DMTs for PD. These strategies minimize time, cost, and risk by using compounds with established safety profiles. Prominent candidates include glucagon-like peptide-1 receptor agonists, dipeptidyl peptidase-4 inhibitors, ambroxol, calcium channel blockers, statins, iron-chelating agents, c-Abl inhibitors, and memantine. Although preclinical and early clinical studies have demonstrated encouraging results, numerous phase III trials have yielded unfavorable outcomes, elucidating the complexity of PD pathophysiology and the need for innovative trial designs. This review evaluates the potential of prioritized repurposed drugs for PD, focusing on their mechanisms, preclinical evidence, and clinical trial outcomes, and highlights the ongoing challenges and opportunities in this field.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"113-126"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365024","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":"Gait Instability and Compensatory Mechanisms in Parkinson's Disease Patients With Camptocormia: An Exploratory Study.","authors":"Hideyuki Urakami, Yasutaka Nikaido, Yuta Okuda, Yutaka Kikuchi, Ryuichi Saura, Yohei Okada","doi":"10.14802/jmd.24226","DOIUrl":"10.14802/jmd.24226","url":null,"abstract":"<p><strong>Objective: </strong>Camptocormia contributes to vertical gait instability and, at times, may also lead to forward instability in experimental settings in Parkinson's disease (PD) patients. However, these aspects, along with compensatory mechanisms, remain largely unexplored. This study comprehensively investigated gait instability and compensatory strategies in PD patients with camptocormia (PD+CC).</p><p><strong>Methods: </strong>Ten PD+CC patients, 30 without camptocormia (PD-CC), and 27 healthy controls (HCs) participated. Self-paced gait tasks were analyzed using three-dimensional motion capture systems to assess gait stability as well as spatiotemporal and kinematic parameters. Unique cases with pronounced forward gait stability or instability were first identified, followed by group comparisons. Correlation analysis was performed to examine associations between trunk flexion angles (lower/upper) and gait parameters. The significance level was set at 0.05.</p><p><strong>Results: </strong>Excluding one unique case, the PD+CC group presented a significantly lower vertical center of mass (COM) position (p=0.019) increased mediolateral COM velocity (p=0.004) and step width (p=0.013), compared to the PD-CC group. Both PD groups presented greater anterior‒posterior margins of stability than did the HCs (p<0.001). Significant correlations were found between lower/upper trunk flexion angles and a lower vertical COM position (r=-0.690/-0.332), as well as increased mediolateral COM velocity (r=0.374/0.446) and step width (r=0.580/0.474).</p><p><strong>Conclusion: </strong>Most PD+CC patients presented vertical gait instability, increased fall risk, and adopted compensatory strategies involving greater lateral COM shift and a wider base of support, with these trends intensifying as trunk flexion angles increased. These findings may guide targeted interventions for gait instability in PD+CC patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"127-137"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895369","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":"Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations.","authors":"Anil Dash, Farsana Mustafa, Divyani Garg, Sreeja Samineni, Ayush Agarwal, Ajay Garg, Achal Kumar Srivastava","doi":"10.14802/jmd.24259","DOIUrl":"10.14802/jmd.24259","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"185-189"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066037","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":"Feasibility of a Multidomain Intervention for Safe Mobility in People With Parkinson's Disease and Recurrent Falls.","authors":"Natalie E Allen, Lina Goh, Colleen G Canning, Catherine Sherrington, Lindy Clemson, Jacqueline Ct Close, Stephen R Lord, Simon J G Lewis, Simone Edwards, Susan Harkness, Roslyn Savage, Lyndell Webster, Genevieve Zelma, Serene S Paul","doi":"10.14802/jmd.24237","DOIUrl":"10.14802/jmd.24237","url":null,"abstract":"<p><strong>Objective: </strong>Mobility limitations and falls are common in people with Parkinson's disease (PwP). Compared with exercise alone, a tailored, multidomain intervention has the potential to be more effective in improving mobility safety and preventing falls. This study aimed to explore the feasibility and potential effectiveness of a multidomain fall prevention intervention (Integrate) designed for PwP who experience frequent falls.</p><p><strong>Methods: </strong>The home-based intervention was delivered over a span of 6 months by occupational therapists and physiotherapists. The personalized intervention included home fall hazard reduction, exercise, and safer mobility behavior training. The participants received 8 to 12 home visits and were supported by care-partners (when necessary) to participate in the intervention.</p><p><strong>Results: </strong>Twenty-nine people (recruitment rate: 49%; drop-out rate: 10%) with moderate to advanced Parkinson's disease, a history of recurrent falls, and mild to moderate cognitive impairment participated in the study, with 26 people completing the study. A moderate-to-high adherence to the intervention was observed, and there were no adverse events related to the intervention. Twenty-one (81%) participants met or exceeded their safer mobility goal based on the Goal Attainment Scale. The participants exhibited a median 1.0-point clinically meaningful improvement according to the Short Physical Performance Battery. An exploratory analysis revealed that fall rates were reduced by almost 50% in the 6-month follow-up period (incidence rate ratio: 0.51; 95% confidence interval 0.28-0.92).</p><p><strong>Conclusion: </strong>A multidomain occupational therapy and physiotherapy intervention for PwP experiencing recurrent falls was feasible and appeared to improve mobility safety. A randomized trial powered to detect the effects of the intervention on falls and mobility is warranted.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"149-159"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639507","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":"Modified Ratio of Tremor/Postural Instability Gait Difficulty Score as an Indicator of Short-Term Outcomes of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease.","authors":"Chakradhar Reddy, Kanchana Pillai, Shejoy Joshua, Anup Nair, Harshad Chavotiya, Manas Chacko, Asha Kishore","doi":"10.14802/jmd.24175","DOIUrl":"10.14802/jmd.24175","url":null,"abstract":"<p><strong>Objective: </strong>The outcomes of motor and nonmotor features of Parkinson's disease (PD) following deep brain stimulation (DBS) vary among its subtypes. We tested whether preoperative motor subtyping using the modified tremor/postural instability and gait difficulty ratio (T/P ratio) could indicate the short-term motor, nonmotor and quality of life (QOL) outcomes of subthalamic nucleus (STN) DBS.</p><p><strong>Methods: </strong>In this prospective study, 39 consecutive STN DBS patients were assessed in the drug-OFF state before surgery and subtyped according to the T/P ratio. Patients were reassessed 6 months after surgery in the stimulation ON-drug-OFF state, and the percentage changes in motor, nonmotor and QOL scores (Parkinson's Disease Quality of Life Questionnaire [PDQ-39]) were calculated.</p><p><strong>Results: </strong>The modified T/P ratio was moderately and positively correlated with the percentage change in the Unified Parkinson's Disease Rating Scale III score in the OFF state, the sum of cardinal motor signs, the Non-Motor Symptom Scale score, and QOL (PDQ-39).</p><p><strong>Conclusion: </strong>Preoperative PD motor subtyping can be used as an indicator of the short-term outcomes of STN DBS in PD patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"165-169"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915083","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":"Validation of the Korean Version of the Huntington's Disease Quality of Life Battery for Carers.","authors":"Hee Jin Chang, Eungseok Oh, Won Tae Yoon, Chan Young Lee, Kyum-Yil Kwon, Yun Su Hwang, Chaewon Shin, Jee-Young Lee","doi":"10.14802/jmd.24217","DOIUrl":"10.14802/jmd.24217","url":null,"abstract":"<p><strong>Objective: </strong>The Huntington's Disease Quality of Life Battery for Carers (HDQoL-C) is used to evaluate caregiver quality of life. This study aimed to develop and validate the Korean version of the HDQoL-C (K-HDQoL-C) to assess the burden on Korean caregivers of Huntington's disease (HD) patients.</p><p><strong>Methods: </strong>A total of 19 HD caregivers (7 females, mean age 55.4±14.6 years) participated in this study. The K-HDQoL-C, a translation of the English version, consisted of demographic information, caring aspects, life satisfaction, and feelings about life. It was administered twice, 2 weeks apart. Internal consistency was evaluated using Cronbach's α, and test-retest reliability was assessed with intraclass correlation coefficients. The relationship with the Zarit Burden Interview-12 (ZBI-12) was analyzed.</p><p><strong>Results: </strong>The internal consistencies of the K-HDQoL-C were 0.771 (part 2), 0.938 (part 3), and 0.891 (part 4). The test-retest reliability ranged from 0.908 to 0.936. Part 3 was negatively correlated with the ZBI-12, and part 4 was positively correlated with the ZBI-12 (r=-0.780, 0.923; p<0.001).</p><p><strong>Conclusion: </strong>The K-HDQoL-C effectively evaluates the challenges faced by HD caregivers, particularly in terms of care aspects and life satisfaction.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"160-164"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903234","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":"Two Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India.","authors":"Pavankumar Katragadda, Vikram V Holla, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.24222","DOIUrl":"10.14802/jmd.24222","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"175-178"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895377","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}