Journal of Movement Disorders最新文献_第6页

Rasmussen's Encephalitis Presenting as Parkinsonism Without Epilepsy. 拉斯穆森脑炎表现为无癫痫的帕金森病。

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2026-03-27 DOI: 10.14802/jmd.26007

Sung Min Lim, Sang Hyun Jang, Sangmin Park

引用次数: 0

Congenital Ataxic Phenotype of ITPR1-Related Disorders Due to Novel Missense Variants: A Video Case Series. 由新的错义变异引起的itpr1相关疾病的先天性共济失调表型-一个视频病例系列。

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2025-11-14 DOI: 10.14802/jmd.25216

Vikram V Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal

引用次数: 0

Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort. 印度一家三级医疗中心DYT-TOR1A患者的临床、放射学和治疗概况，并对MDSGene亚洲队列进行文献综述。

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2025-12-17 DOI: 10.14802/jmd.25256

Madathum Kuzhiyil Farsana, Vikram V Holla, Debjyoti Dhar, Nishanth Gowda, Hansashree Padmanabha, Babylakshmi Muthusamy, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal

{"title":"Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort.","authors":"Madathum Kuzhiyil Farsana, Vikram V Holla, Debjyoti Dhar, Nishanth Gowda, Hansashree Padmanabha, Babylakshmi Muthusamy, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.25256","DOIUrl":"10.14802/jmd.25256","url":null,"abstract":"Objective: This study aimed to characterize the phenotypic spectrum and therapeutic outcomes of patients of Indian and Asian origin with DYT-TOR1A.Methods: A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG; p.Glu303del variant) from a tertiary care center in India.Results: Twelve patients (11 males, 91.7%) with a median age at disease onset of 10.5 years (range, 8-17 years) and a disease duration of 5 years (range, 2 months-31 years) were included. All patients had an isolated and progressive dystonia phenotype. Eight patients (66.7%) had a disease onset in childhood, and limb involvement at disease onset was noted in 10 (83.3%) patients. Five patients (41.7%) underwent bilateral globus pallidus internus deep brain stimulation within a median duration of 4 years (range, 2.5-6.5 years) from onset, with significant improvement.Conclusion: This Indian patient cohort showed a strong male predominance and consistent early involvement of the upper limbs. A shorter disease course accompanied by greater severity highlights the need for early recognition and potential surgical intervention.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"192-198"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768276","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}

引用次数: 0

Efficacy and Safety of Taltirelin Hydrate in Patients With Ataxia Due to Spinocerebellar Degeneration. 水合他替雷林治疗脊髓小脑变性所致共济失调的疗效和安全性。

IF 2.8 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2026-02-20 DOI: 10.14802/jmd.24127e

Jin Whan Cho, Jee-Young Lee, Han-Joon Kim, Joong-Seok Kim, Kun-Woo Park, Seong-Min Choi, Chul Hyoung Lyoo, Seong-Beom Koh

引用次数: 0

Adult-Onset Familial TUBB4A-Related Leukodystrophy Caused by c.286G>A (p.Gly96Arg) in a Korean Family: A Case Report. 韩国家庭c.286G>A （p.Gly96Arg）致成年性家族性tubb4a相关脑白质营养不良1例报告

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2025-12-10 DOI: 10.14802/jmd.25285

Jun Seok Lee, Sooyeoun You

引用次数: 0

Quantification of Loudness Instability in Tone Production in Embouchure Dystonia. 气口肌张力障碍中音调产生响度不稳定性的量化。

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2025-12-24 DOI: 10.14802/jmd.25235

André Lee, Tobias Mantel, Shinichi Furuya, Masanori Morise, Eckart Altenmüller, Bernhard Haslinger

{"title":"Quantification of Loudness Instability in Tone Production in Embouchure Dystonia.","authors":"André Lee, Tobias Mantel, Shinichi Furuya, Masanori Morise, Eckart Altenmüller, Bernhard Haslinger","doi":"10.14802/jmd.25235","DOIUrl":"10.14802/jmd.25235","url":null,"abstract":"Embouchure dystonia (ED) is a task-specific disorder of voluntary fine motor control that severely affects musicians' ability to perform tasks. One critical skill for professional musicians is the ability to produce sustained notes with consistent loudness; however, this ability has not been well defined in musicians with ED. The present study, therefore, compared the time-varying dynamics of loudness in musicians with ED with those in healthy musicians, as well as their relationship with the variability of the fundamental frequency (F0), by performing a sound analysis of sustained notes. The findings revealed significantly greater variability with respect to both loudness and F0 among ED patients. Furthermore, loudness and F0 variability were strongly correlated, suggesting a shared pathological basis. We conclude that F0 variability and loudness instability are reliable measures for objectively characterizing ED and assisting accurate diagnosis. The incorporation of quantitative acoustic tools into future diagnostic and therapeutic frameworks has the potential to increase the objectivity and reproducibility of ED assessment.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"199-202"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175724/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145819767","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}

引用次数: 0

Delayed Presentation of Diencephalic-Mesencephalic Junction Dysplasia With Compulsive Truncal Movements and Blepharospasm: A Case Report From India. 间脑-中脑交界处发育不良伴强迫性躯干运动和眼睑痉挛的延迟表现：印度一例报告。

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2025-08-05 DOI: 10.14802/jmd.25167

Pavankumar Katragadda, Gorantla Padmasri, Karthik Kulanthaivelu, Ravi Yadav

引用次数: 0

Longitudinal Implications of the BDNF rs6265 Polymorphism for Motor and Nonmotor Features of Parkinson's Disease in the Korean Population. BDNF rs6265多态性对韩国人群帕金森病运动和非运动特征的纵向影响

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2026-01-20 DOI: 10.14802/jmd.25300

Sang-Won Yoo, Yun Joong Kim, Dong-Woo Ryu, Yoonsang Oh, Seunggyun Ha, Joong-Seok Kim

{"title":"Longitudinal Implications of the BDNF rs6265 Polymorphism for Motor and Nonmotor Features of Parkinson's Disease in the Korean Population.","authors":"Sang-Won Yoo, Yun Joong Kim, Dong-Woo Ryu, Yoonsang Oh, Seunggyun Ha, Joong-Seok Kim","doi":"10.14802/jmd.25300","DOIUrl":"10.14802/jmd.25300","url":null,"abstract":"Objective: Brain-derived neurotrophic factor (BDNF) has been suggested to support the endurance and dopamine release of dopaminergic neurons. Its Val66Met polymorphism might modify Parkinson's disease (PD) evolution, although evidence in Asian populations remains limited. This study aimed to explore how the BDNF rs6265 genotype is associated with the clinical characteristics and longitudinal progression patterns of PD patients in a Korean population.Methods: A total of 247 patients were enrolled and followed for a mean duration of 50.9±23.9 months. Baseline and/or periodic assessments captured motor severity, nonmotor burden, cognition, orthostatic stress, cardiac denervation, and presynaptic dopamine transporter availability. The repeated measures were manipulated to infer any genotypic differences in the trajectories of each clinical domain.Results: The genotype frequencies were 31.2% (77/247) for Val/Val carriers and 68.8% (170/247) for Met-allele carriers. Baseline clinical characteristics and presynaptic dopamine transporter availability were comparable between genotypes. Initially, Val homozygotes showed more preserved myocardial innervation and poorer nonfrontal cognitive performance. Longitudinal analyses demonstrated genotype-specific increases in motor and cognitive severity. Compared with Met-allele carriers, the homozygous Val group exhibited accelerated motor progression and a more rapid decline in the frontal domain after 3 years of follow-up.Conclusion: The differences in myocardial denervation at diagnosis, cognitive profiles, and motor progression might suggest a potential modulatory role of BDNF polymorphisms in PD progression in the Korean population.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"167-177"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003805","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}

引用次数: 0

Levodopa-Induced Oculogyric Crisis in Multiple System Atrophy. 左旋多巴引起的多系统萎缩的眼部危象。

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2026-03-27 DOI: 10.14802/jmd.26021

Oybek Turgunkhujaev, Elina Bagdasarova, Shen-Yang Lim

引用次数: 0

Association Between Statin Use and Mortality in Adults With Parkinson's Disease: A Nationwide Cohort Study. 成人帕金森病患者他汀类药物使用与死亡率的关系：一项全国性队列研究

IF 4 4区医学

Journal of Movement Disorders Pub Date : 2026-04-01 Epub Date: 2026-01-20 DOI: 10.14802/jmd.25240

Mincheol Park, Hokyung Lee, Yeonju Jin, Sanghee Yoo, Sung-Woo Kim, Sojeong Park, Jiwon Hong, Jin Yong Hong, Ickpyo Hong, Min Seok Baek

{"title":"Association Between Statin Use and Mortality in Adults With Parkinson's Disease: A Nationwide Cohort Study.","authors":"Mincheol Park, Hokyung Lee, Yeonju Jin, Sanghee Yoo, Sung-Woo Kim, Sojeong Park, Jiwon Hong, Jin Yong Hong, Ickpyo Hong, Min Seok Baek","doi":"10.14802/jmd.25240","DOIUrl":"10.14802/jmd.25240","url":null,"abstract":"Objective: The impact of statin use on the progression and survival of patients with Parkinson's disease (PD) remains unclear. Moreover, evidence in Asian populations is limited. This study aimed to assess the associations between statin prescription, cumulative dosage, and all-cause mortality in PD patients.Methods: This retrospective cohort study was conducted using sample data obtained from the Korean National Health Insurance Service (KNHIS) claims database. The study included 3,152 adults who were diagnosed with PD and whose history of statin use and cumulative dose information were obtained from claims records. Data were collected from the KNHIS database, and all eligible participants were followed longitudinally to determine all-cause mortality. The primary outcome was all-cause mortality, and the exposures were statin use (yes or no) and cumulative dose. The analysis was conducted using Cox proportional hazards regression adjusted for relevant covariates.Results: Statin use was associated with a lower risk of all-cause mortality (hazard ratio [HR], 0.600; 95% confidence interval [CI], 0.521-0.691). Among statin users, a higher cumulative statin dose was linked to a further reduction in mortality (HR, 0.800; 95% CI, 0.761-0.842).Conclusion: Statin use and increased cumulative exposure were associated with reduced all-cause mortality in patients with PD, and these findings suggest a potential survival benefit and warrant further investigation in diverse populations.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"157-166"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13175743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003734","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}

引用次数: 0