Journal of Movement Disorders最新文献_第7页

The First Indian Patient With Benign Hereditary Chorea due to a De Novo Mutation in the NKX2-1 Gene. 首例因 NKX2-1 基因新突变而导致良性遗传性舞蹈症的印度患者。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-04-01 Epub Date: 2024-02-29 DOI: 10.14802/jmd.23273

Divyani Garg, Ayush Agarwal, Mohammed Faruq, Achal Kumar Srivastava

引用次数: 0

Accessibility of Device-Aided Therapies for Persons With Parkinson's Disease in Poland. 波兰帕金森病患者装置辅助疗法的可及性。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-04-01 Epub Date: 2023-11-20 DOI: 10.14802/jmd.23172

Katarzyna Smilowska, Tomasz Pietrzykowski, K Ray Chaudhuri, Bastiaan R Bloem, Daniel J van Wamelen

{"title":"Accessibility of Device-Aided Therapies for Persons With Parkinson's Disease in Poland.","authors":"Katarzyna Smilowska, Tomasz Pietrzykowski, K Ray Chaudhuri, Bastiaan R Bloem, Daniel J van Wamelen","doi":"10.14802/jmd.23172","DOIUrl":"10.14802/jmd.23172","url":null,"abstract":"Objective: Access to care for people with Parkinson's disease (PD), particularly to device-aided therapies (DAT), is not equally distributed. The objective was to analyze accessibility to DAT (deep brain stimulation, intraduodenal levodopa pump therapy, and apomorphine pump therapy) in Poland.Methods: We analyzed the distribution of DAT use in Poland by determining the number of persons with PD receiving one of the three DATs during 2015-2021.Results: In 2021, the number of persons receiving DAT in Poland was 0.56% of the total PD population, increasing from 0.21% in 2015. Overall, deep brain stimulation was the preferred DAT in Poland, but strong regional differences in the use of the other DATs were observed. Accessibility to DAT was negatively associated with average annual income (p < 0.001).Conclusion: Access to DAT for persons with PD in Poland is still limited, and strong regional differences in accessibility were observed, although its general increase over the last decade is encouraging.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"208-212"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138047088","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

Impact of Deep Brain Stimulation on Non-Motor Symptoms in Parkinson's Disease. 深部脑刺激对帕金森病非运动症状的影响。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-04-01 Epub Date: 2024-03-13 DOI: 10.14802/jmd.23247

Tanaya Mishra, Nitish Kamble, Amitabh Bhattacharya, Ravi Yadav, Dwarakanath Srinivas, Pramod Kumar Pal

引用次数: 0

Oculogyric Crisis as the First Presentation of Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Report. 生物素硫胺素反应性基底神经节疾病首次出现的眼科危象一例报告。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-01-01 Epub Date: 2023-11-16 DOI: 10.14802/jmd.23181

Abdullah Nasser Aldosari

引用次数: 0

A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review. 一个成年发作的进行性痉挛性截瘫和孤立性髓鞘形成不足白质营养不良家族中TUBB4A突变的新表型：一例病例报告和文献综述。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-01-01 Epub Date: 2023-10-23 DOI: 10.14802/jmd.23142

Pei-Chen Hsieh, Pei Shan Yu, Wen-Lang Fan, Chun-Chieh Wang, Chih-Ying Chao, Yih-Ru Wu

{"title":"A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review.","authors":"Pei-Chen Hsieh, Pei Shan Yu, Wen-Lang Fan, Chun-Chieh Wang, Chih-Ying Chao, Yih-Ru Wu","doi":"10.14802/jmd.23142","DOIUrl":"10.14802/jmd.23142","url":null,"abstract":"Tubulin beta 4A class IVa (TUBB4A) spectrum disorders include autosomal dominant dystonia type 4 or hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). However, in rare cases, only mild hypomyelination in the cortex with no basal ganglia atrophy may be observed. We report a case of a family with TUBB4A mutation and complicated hereditary spasticity paraplegia (HSP). We performed quadro whole-exome sequencing (WES) on the family to identify the causative gene of progressive spastic paraparesis with isolated hypomyelination leukodystrophy. We identified a novel TUBB4A p.F341L mutation, which was present in all three affected patients but absent in the unaffected father. The affected patients presented with adult-onset TUBB4A disorder, predominant spastic paraparesis with/without ataxia, and brain hypomyelination with no cognitive impairment or extrapyramidal symptoms. In the literature, HSP is considered a TUBB4A spectrum disorder.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"94-98"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690959","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

A Case of Task-Specific Tremor of the Hand While Driving. 驾驶时手因特定任务而颤抖的情况。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-01-01 Epub Date: 2023-10-12 DOI: 10.14802/jmd.23175

Minkyeong Kim, Eunji Kim, Seok Min Moon, Juhyeon Kim, Heeyoung Kang

引用次数: 0

Factors associated with anticholinergic-induced oral-buccal-lingual dyskinesia in Parkinson's disease. 帕金森病中与抗胆碱能诱导的口腔颊舌运动障碍相关的因素。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-01-01 Epub Date: 2023-09-22 DOI: 10.14802/jmd.23069

Joonyoung Ha, Suk Yun Kang, Kyoungwon Baik, Young H Sohn, Phil Hyu Lee, Min Seok Baek, Jin Yong Hong

引用次数: 0

Parkinson's Disease, Impulsive-Compulsive Behaviors, and Health-Related Quality of Life. 帕金森病、冲动性强迫行为与健康相关的生活质量。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-01-01 Epub Date: 2023-11-06 DOI: 10.14802/jmd.23042

Marie Grall-Bronnec, Audrey Verholleman, Caroline Victorri-Vigneau, Juliette Leboucher, Elsa Thiabaud, Jean-Benoit Hardouin, Benoit Schreck, Tiphaine Rouaud, Monica Roy, Pascal Derkinderen, Gaëlle Challet-Bouju

{"title":"Parkinson's Disease, Impulsive-Compulsive Behaviors, and Health-Related Quality of Life.","authors":"Marie Grall-Bronnec, Audrey Verholleman, Caroline Victorri-Vigneau, Juliette Leboucher, Elsa Thiabaud, Jean-Benoit Hardouin, Benoit Schreck, Tiphaine Rouaud, Monica Roy, Pascal Derkinderen, Gaëlle Challet-Bouju","doi":"10.14802/jmd.23042","DOIUrl":"10.14802/jmd.23042","url":null,"abstract":"Objective: A large body of literature has examined the links between the use of dopamine replacement therapy (DRT) in Parkinson's disease (PD) and the development of \"impulsive-compulsive behaviors (ICBs).\" Little is known regarding the link between the development of ICBs and health-related quality of life (HRQOL). We aimed to explore the factors that are associated with poorer HRQOL, especially in relation to DRT-induced ICBs, in a sample of PD patients.Methods: This PARKADD (PARK: PARKinson's disease; ADD: behavioral ADDictions) study was a prospective case‒control study initially designed to assess the factors associated with ICBs in PD patients. A prospective clinical follow-up was added, aiming to capture the long-term evolution of HRQOL in relation to ICBs occurring or worsening after the beginning of PD. We focused on sociodemographic and PD characteristics and the history or presence of ICBs. HRQOL was measured using the Parkinson's Disease Questionnaire-8. A multivariate linear regression was performed to identify factors related to poorer HRQOL.Results: A total of 169 patients were eligible for the follow-up study. The presence of an ICB, a higher levodopa equivalent daily dose (LEDD) and a longer PD duration were significantly associated with poorer HRQOL, with an interaction between LEDD and PD duration.Conclusion: The presence of an ICB was related to poorer HRQOL and should be considered a crucial factor for the management of PD patients. Several studies were recently published that provide guidelines for the management of these patients, with recommendations based on two key principles: prevention and specific treatment.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"82-88"},"PeriodicalIF":3.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71482494","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

Fighting Against the Clock: Circadian Disruption and Parkinson's Disease. 与时间抗争:昼夜节律紊乱和帕金森病。

IF 3.9 4区医学

Journal of Movement Disorders Pub Date : 2024-01-01 Epub Date: 2023-11-21 DOI: 10.14802/jmd.23216

Yen-Chung Chen, Wei-Sheng Wang, Simon J G Lewis, Shey-Lin Wu

引用次数: 0

Ultrastructures of α-Synuclein Filaments in Synucleinopathy Brains and Experimental Models. 突触核蛋白病脑组织α-突触核蛋白细丝超微结构及实验模型。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-01-01 Epub Date: 2023-11-22 DOI: 10.14802/jmd.23213

Airi Tarutani, Masato Hasegawa

{"title":"Ultrastructures of α-Synuclein Filaments in Synucleinopathy Brains and Experimental Models.","authors":"Airi Tarutani, Masato Hasegawa","doi":"10.14802/jmd.23213","DOIUrl":"10.14802/jmd.23213","url":null,"abstract":"Intracellular α-synuclein (α-syn) inclusions are a neuropathological hallmark of Lewy body disease (LBD) and multiple system atrophy (MSA), both of which are termed synucleinopathies. LBD is defined by Lewy bodies and Lewy neurites in neurons, while MSA displays glial cytoplasmic inclusions in oligodendrocytes. Pathological α-syn adopts an ordered filamentous structure with a 5-10 nm filament diameter, and this conformational change has been suggested to be involved in the disease onset and progression. Synucleinopathies also exhibit characteristic ultrastructural and biochemical properties of α-syn filaments, and α-syn strains with distinct conformations have been identified. Numerous experimental studies have supported the idea that pathological α-syn self-amplifies and spreads throughout the brain, during which processes the conformation of α-syn filaments may drive the disease specificity. In this review, we summarize the ultrastructural features and heterogeneity of α-syn filaments in the brains of patients with synucleinopathy and in experimental models of seeded α-syn aggregation.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"15-29"},"PeriodicalIF":2.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138291184","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