Journal of Movement Disorders最新文献_第5页

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort. ARSACS 之旅：从七名患者的系列病例中获得的启示--一项单一中心研究和印度队列回顾。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-08-29 DOI: 10.14802/jmd.24154

Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal

{"title":"Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.","authors":"Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.24154","DOIUrl":"10.14802/jmd.24154","url":null,"abstract":"Objective: In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).Methods: We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.Results: All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients had walking difficulty (7/7), spastic ataxia (7/7), classical neuroimaging findings (7/7), sensory‒motor demyelinating polyneuropathy (6/6), abnormal evoked potentials (5/5), and a thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 unique pathogenic/likely pathogenic variants (6 novel) in the SACS gene. An additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.Conclusion: Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"430-435"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142093526","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

Potential Psychosis Induced by a Sustained High Plasma Levodopa Concentration Due to Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion in a Patient With Parkinson's Disease: A Case Report. 帕金森病患者通过持续皮下注射磷左多巴/磷卡比多巴，血浆左旋多巴浓度持续升高可能诱发精神病：病例报告。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-06-28 DOI: 10.14802/jmd.24114

Toshiki Tezuka, Tomonori Nukariya, Yuta Kizuka, Shohei Okusa, Ryotaro Okochi, Yuto Sakai, Yoshihiro Nihei, Jin Nakahara, Morinobu Seki

引用次数: 0

The Goal Attainment Scale Refines Patient-Centered Expectations in Botulinum Toxin Treatment of Cervical Dystonia. 目标达成量表完善了肉毒杆菌毒素治疗颈肌张力障碍时以患者为中心的预期。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-09-23 DOI: 10.14802/jmd.24150

Pattamon Panyakaew, Piyanat Wongwan, Roongroj Bhidayasiri

引用次数: 0

Optimal Measurement Height and Validation of a 2D-Light Detection and Ranging Device-Based Analysis System for Spatiotemporal Gait Parameters. 基于二维激光雷达的时空步态参数分析系统的最佳测量高度和验证。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-08-21 DOI: 10.14802/jmd.24134

Seungki Woo, Chaewon Shin, Min Young Kim

引用次数: 0

Efficacy and Safety of Zolpidem for Musician's Dystonia. 唑吡坦治疗音乐家肌张力障碍的疗效和安全性。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-07-01 DOI: 10.14802/jmd.24121

Shiro Horisawa, Kilsoo Kim, Masato Murakami, Masahiko Nishitani, Takakazu Kawamata, Takaomi Taira

{"title":"Efficacy and Safety of Zolpidem for Musician's Dystonia.","authors":"Shiro Horisawa, Kilsoo Kim, Masato Murakami, Masahiko Nishitani, Takakazu Kawamata, Takaomi Taira","doi":"10.14802/jmd.24121","DOIUrl":"10.14802/jmd.24121","url":null,"abstract":"Objective: The efficacy and safety of zolpidem for treating musician's dystonia are not well understood. We aimed to retrospectively investigate the efficacy and safety of zolpidem for treating musician's dystonia.Methods: We retrospectively reviewed medical records between January 2021 and December 2023 to identify patients with musician's dystonia who had been prescribed zolpidem. Tubiana's Musician's Dystonia Rating Scale (range, 1-5; lower scores indicating greater severity) was used to evaluate musician's dystonia.Results: Fifteen patients were included in this study. The mean effective dose of zolpidem was 5.3 ± 2.0 mg. The mean effective duration of zolpidem was 4.3 ± 1.2 h. With zolpidem administration, Tubiana's musician's dystonia rating scale score significantly improved from 2.2 ± 1.0 to 4.3 ± 0.8 (48.9% improvement, p < 0.001). Two patients (13.3%) discontinued the drug owing to unsatisfactory results or sleepiness.Conclusion: The results of this study suggest that zolpidem may be an alternative treatment option for musician's dystonia.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"425-429"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476807","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

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature. 七名 PARK-PINK1 患者的临床遗传学特征：印度一家三级医疗中心的系列病例及文献综述。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-09-19 DOI: 10.14802/jmd.24157

Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal

{"title":"Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.","authors":"Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal","doi":"10.14802/jmd.24157","DOIUrl":"10.14802/jmd.24157","url":null,"abstract":"Objective: Recessive variants in the PINK1 gene are known causes of early-onset Parkinson's disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson's disease (PARK-PINK1) mutations.Methods: We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.Results: A total of 7 patients whose median age at onset was 33 years (range: 20-49) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic/likely pathogenic variants, five of which were novel.Conclusion: PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"436-441"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289380","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

Thalamic Deep Brain Stimulation for SPG56-Related Focal Hand Dystonia. 丘脑深部脑刺激治疗与 SPG-56 相关的局灶性手部肌张力障碍。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-06-27 DOI: 10.14802/jmd.24022

Momo Uchida, Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Shinichi Tokushige, Takakazu Kawamata, Takaomi Taira

引用次数: 0

Olfactory and Gustatory Function in Early-Stage Parkinson's Disease: Implications for Cognitive Association. 早期帕金森病患者的嗅觉和味觉功能：对认知关联的影响

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-06-27 DOI: 10.14802/jmd.23243

Jeongjae Lee, Young Eun Kim, Joong Seob Lee, Suk Yun Kang, Min Seung Kim, In Hee Kwak, Jaeseol Park, Jung Yeon Nam, Hyeo-Il Ma

引用次数: 0

Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism. 表现为左旋多巴反应性帕金森病的朱伯特综合征

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-07-01 Epub Date: 2024-03-27 DOI: 10.14802/jmd.23275

Jin Hwangbo, Ki-Seok Park, Hyun Sung Kim, Jae-Hwan Choi, Jae-Hyeok Lee

引用次数: 0

Fatigue in Parkinson's Disease Is Due to Decreased Efficiency of the Frontal Network: Quantitative EEG Analysis. 帕金森病患者的疲劳是由于额叶网络效率下降所致：脑电图定量分析。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-07-01 Epub Date: 2024-06-10 DOI: 10.14802/jmd.24038

Min Seung Kim, Sanguk Park, Ukeob Park, Seung Wan Kang, Suk Yun Kang

{"title":"Fatigue in Parkinson's Disease Is Due to Decreased Efficiency of the Frontal Network: Quantitative EEG Analysis.","authors":"Min Seung Kim, Sanguk Park, Ukeob Park, Seung Wan Kang, Suk Yun Kang","doi":"10.14802/jmd.24038","DOIUrl":"10.14802/jmd.24038","url":null,"abstract":"Objective: Fatigue is a common, debilitating nonmotor symptom of Parkinson's disease (PD), but its mechanism is poorly understood. We aimed to determine whether electroencephalography (EEG) could objectively measure fatigue and to explore the pathophysiology of fatigue in PD.Methods: We studied 32 de novo PD patients who underwent EEG. We compared brain activity between 19 PD patients without fatigue and 13 PD patients with fatigue via EEG power spectra and graphs, including the global efficiency, characteristic path length, clustering coefficient, small-worldness, local efficiency, degree centrality, closeness centrality, and betweenness centrality.Results: No significant differences in absolute or relative power were detected between PD patients without or with fatigue (all p > 0.02, Bonferroni-corrected). According to our network analysis, brain network efficiency differed by frequency band. Generally, the brain network in the frontal area for theta and delta bands showed greater efficiency, and in the temporal area, the alpha1 band was less efficient in PD patients without fatigue (p < 0.0001, p = 0.0011, and p = 0.0007, respectively, Bonferroni-corrected).Conclusion: Our study suggests that PD patients with fatigue have less efficient networks in the frontal area than PD patients without fatigue. These findings may explain why fatigue is common in PD, a frontostriatal disorder. Increased efficiency in the temporal area in PD patients with fatigue is assumed to be compensatory. Brain network analysis using graph theory is more valuable than power spectrum analysis in revealing the brain mechanism related to fatigue.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"304-312"},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296266","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