Journal of Movement Disorders最新文献_第8页

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

Knowledge, Attitudes and Perceptions of Genetic Testing Among Patients With Movement Disorders, Their Caregivers and Health Care Professionals. 运动障碍患者、其护理人员和医护人员对基因检测的认识、态度和看法。

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.24034

Sneha D Kamath, Vikram V Holla, Nitish Kamble, Rohan R Mahale, Ravi Yadav, Pramod Kumar Pal

引用次数: 0

The First East Asian Patient With Parkinson's Disease Caused by the A53E SNCA Mutation With Early Progression to Dementia. 首例由 A53E SNCA 基因突变引起的东亚帕金森病，早期发展为痴呆症。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-07-01 Epub Date: 2024-06-13 DOI: 10.14802/jmd.24118

Yeo Jun Yoon, Chan Wook Park, Jin Ju Kim, Seok Jong Chung, Yun Joong Kim

引用次数: 0

Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome. 18p缺失综合征导致的GNAL单倍体缺陷引起的震颤性肌张力障碍。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-07-01 Epub Date: 2024-05-13 DOI: 10.14802/jmd.24080

Arianna Braccia, Miryam Carecchio, Francesca Luisa Sciacca, Anna Castagna, Antonio Emanuele Elia, Luigi Michele Romito

引用次数: 0

COVID-19 Vaccine-Related Movement Disorders: A Systematic Review. 与 COVID-19 疫苗相关的运动障碍：系统综述。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-07-01 Epub Date: 2024-03-19 DOI: 10.14802/jmd.24001

Grace Elysse D Angeles, Lowrence Precious C Dichoso, Roland Dominic G Jamora

{"title":"COVID-19 Vaccine-Related Movement Disorders: A Systematic Review.","authors":"Grace Elysse D Angeles, Lowrence Precious C Dichoso, Roland Dominic G Jamora","doi":"10.14802/jmd.24001","DOIUrl":"10.14802/jmd.24001","url":null,"abstract":"Objective: Since the release of vaccines against coronavirus disease 2019 (COVID-19), there have been reports of vaccine-related neurologic complications. This study aimed to perform a descriptive systematic review of movement disorders associated with COVID-19 vaccines.Methods: We described the demographics, clinical presentation, management, outcomes, and proposed pathomechanism of the patients. A systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A standardized tool was used to assess the quality of the cases.Results: We identified 8 articles that met our inclusion criteria; these articles included 10 patients who developed movement disorders after vaccination. The majority were males (n = 8), with a median age of 64.5 years. The most common movement disorder was hemichorea. The rest presented with generalized chorea with myoclonus, cervical dystonia, and akathisia. Most patients respond to immunotherapy. The standardized tool used showed that most studies had a low risk of bias.Conclusion: The reported incidence of vaccine-related movement disorders was low based on available published cases.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"322-327"},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140158359","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

Dopamine Dysregulation Syndrome Presenting as Overuse of Mucuna pruriens Levodopa Supplement. 多巴胺失调综合征表现为过度使用左旋多巴补充剂。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-07-01 Epub Date: 2024-05-21 DOI: 10.14802/jmd.24067

David O Sohutskay, Rachel M Suen, Farwa Ali, David J Rosenman

引用次数: 0