Journal of Movement Disorders最新文献

{"title":"Functional Movement Disorders: Updates and Clinical Overview.","authors":"Jung E Park","doi":"10.14802/jmd.24126","DOIUrl":"10.14802/jmd.24126","url":null,"abstract":"<p><p>Functional movement disorder (FMD) is a type of functional neurological disorder that is common but often difficult to diagnose or manage. FMD can present as various phenotypes, including tremor, dystonia, myoclonus, gait disorders, and parkinsonism. Conducting a clinical examination appropriate for assessing a patient with suspected FMD is important, and various diagnostic testing maneuvers may also be helpful. Treatment involving a multidisciplinary team, either outpatient or inpatient, has been found to be most effective. Examples of such treatment protocols are also discussed in this review. While recognition and understanding of the disorder has improved over the past few decades, as well as the development of treatments, it is not uncommon for patients and physicians to continue to experience various difficulties when dealing with this disorder. In this review, I provide a practical overview of FMD and discuss how the clinical encounter itself can play a role in patients' acceptance of the diagnosis. Recent neuroimaging studies that aid in understanding the pathophysiology are also discussed.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"251-261"},"PeriodicalIF":2.5,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476808","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":"Fasting Plasma Glucose Levels and Longitudinal Motor and Cognitive Outcomes in Parkinson's Disease Patients.","authors":"Ko-Eun Choi, Dong-Woo Ryu, Yoon-Sang Oh, Joong-Seok Kim","doi":"10.14802/jmd.23264","DOIUrl":"10.14802/jmd.23264","url":null,"abstract":"<p><strong>Objective: </strong>Hyperglycemia and diabetes mellitus have been identified as poor prognostic factors for motor and nonmotor outcomes in patients with Parkinson's disease (PD), although there is some controversy with this finding. In the present study, we investigated the effects of fasting plasma glucose (FPG) levels on longitudinal motor and cognitive outcomes in PD patients.</p><p><strong>Methods: </strong>We included a total of 201 patients who were diagnosed with PD between January 2015 and January 2020. The patients were categorized based on FPG level into euglycemia (70 mg/dL < FPG < 100 mg/dL), intermediate glycemia (100 mg/dL ≤ FPG < 126 mg/dL), and hyperglycemia (FPG ≥ 126 mg/dL), and longitudinal FPG trajectories were analyzed using group-based trajectory modeling. Survival analysis was conducted to determine the time until motor outcome (Hoehn and Yahr stage ≥ 2) and the conversion from normal cognition to mild cognitive impairment.</p><p><strong>Results: </strong>Among the patient cohort, 82 had euglycemia, 93 had intermediate glycemia, and 26 had hyperglycemia. Intermediate glycemia (hazard ratio 1.747, 95% confidence interval [CI] 1.083-2.816, p = 0.0221) and hyperglycemia (hazard ratio 3.864, 95% CI 1.996-7.481, p < 0.0001) were found to be significant predictors of worsening motor symptoms. However, neither intermediate glycemia (hazard ratio 1.183, 95% CI 0.697-2.009, p = 0.5339) nor hyperglycemia (hazard ratio 1.297, 95% CI 0.601-2.800, p = 0.5078) demonstrated associations with the longitudinal progression of cognitive impairment. Diabetes mellitus, defined by self-reported medical history, was not related to poor motor or cognitive impairment outcomes.</p><p><strong>Conclusion: </strong>Our.</p><p><strong>Results: </strong>suggest that both impaired glucose tolerance and hyperglycemia could be associated with motor progression in PD patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"198-207"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082616/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140039632","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":"High Levels of Mutant Huntingtin Protein in Tear Fluid From Huntington's Disease Gene Expansion Carriers.","authors":"Marlies Gijs, Nynke Jorna, Nicole Datson, Chantal Beekman, Cira Dansokho, Alexander Weiss, David E J Linden, Mayke Oosterloo","doi":"10.14802/jmd.24014","DOIUrl":"10.14802/jmd.24014","url":null,"abstract":"<p><strong>Objective: </strong>Huntington's disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects middle-aged adults. HD is caused by a CAG repeat expansion in the HTT gene, resulting in the expression of mutant huntingtin (mHTT). Our aim was to detect and quantify mHTT in tear fluid, which, to our knowledge, has never been measured before.</p><p><strong>Methods: </strong>We recruited 20 manifest and 13 premanifest HD gene expansion carriers, and 20 age-matched controls. All patients underwent detailed assessments, including the Unified Huntington's Disease Rating Scale (UHDRS) total motor score (TMS) and total functional capacity (TFC) score. Tear fluid was collected using paper Schirmer's strips. The level of tear mHTT was determined using single-molecule counting SMCxPRO technology.</p><p><strong>Results: </strong>The average tear mHTT levels in manifest (67,223 ± 80,360 fM) and premanifest patients (55,561 ± 45,931 fM) were significantly higher than those in controls (1,622 ± 2,179 fM). We noted significant correlations between tear mHTT levels and CAG repeat length, \"estimated years to diagnosis,\" disease burden score and UHDRS TMS and TFC. The receiver operating curve demonstrated an almost perfect score (area under the curve [AUC] = 0.9975) when comparing controls to manifest patients. Similarly, the AUC between controls and premanifest patients was 0.9846. The optimal cutoff value for distinguishing between controls and manifest patients was 4,544 fM, whereas it was 6,596 fM for distinguishing between controls and premanifest patients.</p><p><strong>Conclusion: </strong>Tear mHTT has potential for early and noninvasive detection of alterations in HD patients and could be integrated into both clinical trials and clinical diagnostics.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"181-188"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139912783","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":"Hemimasticatory Spasm Treated With Muscle Afferent Block Therapy and Occlusal Splint.","authors":"Kazuya Yoshida","doi":"10.14802/jmd.23249","DOIUrl":"10.14802/jmd.23249","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"230-232"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082605/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139466804","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":"A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism.","authors":"Giulia Di Rauso, Francesco Cavallieri, Edoardo Monfrini, Alessandro Fraternali, Valentina Fioravanti, Sara Grisanti, Annalisa Gessani, Isabella Campanini, Andrea Merlo, Giulia Toschi, Manuela Napoli, Rosario Pascarella, Rosamaria Silipigni, Palma Finelli, Jefri J Paul, Peter Bauer, Annibale Versari, Alessio Di Fonzo, Franco Valzania","doi":"10.14802/jmd.23222","DOIUrl":"10.14802/jmd.23222","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"236-238"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521064","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":"Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India.","authors":"Vikram V Holla, Sandeep Gurram, Sneha D Kamath, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.23227","DOIUrl":"10.14802/jmd.23227","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"220-222"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138799507","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":"Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect.","authors":"Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouider","doi":"10.14802/jmd.23178","DOIUrl":"10.14802/jmd.23178","url":null,"abstract":"<p><strong>Objective: </strong>Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder encompassing several phenotypes with various motor and cognitive deficits. We aimed to study motor and cognitive characteristics across PSP phenotypes and to assess the influence of apolipoprotein E (APOE) gene variants on PSP phenotypic expression.</p><p><strong>Methods: </strong>In this 20-year cross-sectional study, we retrospectively reviewed the charts of all patients classified as PSP patients and recategorized them according to phenotype using the Movement Disorder Society criteria (2017). Phenotypes were divided into three subgroups, Richardson's syndrome (PSP-RS), PSP-cortical (PSP with predominant frontal presentation [PSP-F] + PSP with predominant speech/language disorder [PSP-SL] + PSP with predominant corticobasal syndrome [PSP-CBS]) and PSP-subcortical (PSP with predominant parkinsonism [PSP-P] + PSP with progressive gait freezing [PSP-PGF] + PSP with predominant postural instability [PSP-PI] + PSP with predominant ocular motor dysfunction [PSP-OM] + PSP with cerebellar ataxia [PSP-C] + PSP with primary lateral sclerosis [PSP-PLS]), based on clinical presentation during the first 3 years after symptom onset, which defines the early disease stage. Clinical and neuropsychological assessment data were collected. Genotyping of APOE was performed using restriction fragment length polymorphism polymerase chain reaction and verified by Sanger sequencing.</p><p><strong>Results: </strong>We included 112 PSP patients comprising 10 phenotypes classified into 48 PSP-RS, 34 PSP-cortical (PSP-CBS, 17.6%; PSP-F, 9.4%; PSP-SL, 8.2%) and 30 PSP-subcortical (PSP-P, 11.6%; PSP-PI, 8%; PSP-OM, 2.7%; PSP-PGF, 1.8%; PSP-C, 1.8%; PSP-PLS, 0.9%) subgroups. PSP-RS patients were older at disease onset (p = 0.009) and had more akinetic-rigid and levodopa-resistant parkinsonism (p = 0.006), while PSP-cortical patients had more tremors and asymmetric and/or levodopa-responsive parkinsonism (p = 0.025). Cognitive domains were significantly less altered in the PSP-subcortical subgroup. Overall, PSP-APOEε4 carriers developed parkinsonism earlier (p = 0.038), had earlier oculomotor dysfunction (p = 0.052) and had more altered cognitive profiles. The APOEε4 allele was also associated with a younger age of parkinsonism onset in the PSP-RS phenotype group (p = 0.026).</p><p><strong>Conclusion: </strong>This study demonstrated the wide phenotypic spectrum of PSP among Tunisians. Disease onset and akinetic-rigid and levodopa-resistant parkinsonism were the hallmarks of the PSP-RS phenotype, while milder cognitive impairment was characteristic of the PSP-subcortical subgroup. The APOEε4 allele was associated with earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"158-170"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139642248","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":"Extraction of the pull force from inertial sensors during the pull test for Parkinson's disease: A reliability study.","authors":"Ryoma Taniuchi, Shusaku Kanai, Amane Hara, Kazuya Monden, Hiroaki Nagatani, Tsuyoshi Torii, Toshihide Harada","doi":"10.14802/jmd.23185","DOIUrl":"10.14802/jmd.23185","url":null,"abstract":"<p><strong>Objective: </strong>To examine the inter- and intra-rater reliability of the pull test in patients with Parkinson's disease (PD) using the extracted pull force.</p><p><strong>Methods: </strong>In this inter- and intra-rater reliability study, two raters performed a pull test on 30 patients with PD. The pull force was quantified using inertial sensors attached to the rater's right hand and the patient's lower trunk. In this study, the pull force was calculated as an extracted three-dimensional vector quantity, the resultant acceleration, and was expressed in m/s2. Inter- and intra-rater reliabilities were analyzed using the interclass correlation coefficient (ICC) for the pull force and Cohen's weighted kappa (κw) for the pull test score. Furthermore, Bland-Altman analysis was used to investigate systematic errors.</p><p><strong>Results: </strong>The inter- and intra-rater reliability of the pull force was very poor (ICC = 0.033-0.214). Bland-Altman analysis revealed no systematic errors in the pull forces between the two test points. Conversely, κw for the pull test scores ranged from 0.763 to 0.920, indicating substantial to almost perfect agreement.</p><p><strong>Conclusion: </strong>The pull test score was reliable despite variations in the quantified pull force for inter- and intra-rater reliability. Our findings suggest that the pull test is a robust tool for evaluating postural instability in patients with PD and that the pull force probably does not affect scoring performance.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"150-157"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138799405","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":"A Rare Case of Uner Tan Syndrome With Incidentally Detected Choroid Plexus Papilloma.","authors":"Uddalak Chakraborty, Adreesh Mukherjee, Amlan Kusum Datta, Atanu Biswas, Goutam Gangopadhyay","doi":"10.14802/jmd.23192","DOIUrl":"10.14802/jmd.23192","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"223-225"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830078","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":"Comparing Montreal Cognitive Assessment Performance in Parkinson's Disease Patients: Age- and Education-Adjusted Cutoffs vs. Machine Learning.","authors":"Kyeongmin Baek, Young Min Kim, Han Kyu Na, Junki Lee, Dong Ho Shin, Seok-Jae Heo, Seok Jong Chung, Kiyong Kim, Phil Hyu Lee, Young H Sohn, Jeehee Yoon, Yun Joong Kim","doi":"10.14802/jmd.23271","DOIUrl":"10.14802/jmd.23271","url":null,"abstract":"<p><strong>Objective: </strong>The Montreal Cognitive Assessment (MoCA) is recommended for general cognitive evaluation in Parkinson's disease (PD) patients. However, age- and education-adjusted cutoffs specifically for PD have not been developed or systematically validated across PD cohorts with diverse education levels.</p><p><strong>Methods: </strong>In this retrospective analysis, we utilized data from 1,293 Korean patients with PD whose cognitive diagnoses were determined through comprehensive neuropsychological assessments. Age- and education-adjusted cutoffs were formulated based on 1,202 patients with PD. To identify the optimal machine learning model, clinical parameters and MoCA domain scores from 416 patients with PD were used. Comparative analyses between machine learning.</p><p><strong>Methods: </strong>and different cutoff criteria were conducted on an additional 91 consecutive patients with PD.</p><p><strong>Results: </strong>The cutoffs for cognitive impairment decrease with increasing age within the same education level. Similarly, lower education levels within the same age group correspond to lower cutoffs. For individuals aged 60-80 years, cutoffs were set as follows: 25 or 24 years for those with more than 12 years of education, 23 or 22 years for 10-12 years, and 21 or 20 years for 7-9 years. Comparisons between age- and education-adjusted cutoffs and the machine learning method showed comparable accuracies. The cutoff method resulted in a higher sensitivity (0.8627), whereas machine learning yielded higher specificity (0.8250).</p><p><strong>Conclusion: </strong>Both the age- and education-adjusted cutoff.</p><p><strong>Methods: </strong>and machine learning.</p><p><strong>Methods: </strong>demonstrated high effectiveness in detecting cognitive impairment in PD patients. This study highlights the necessity of tailored cutoffs and suggests the potential of machine learning to improve cognitive assessment in PD patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"171-180"},"PeriodicalIF":3.9,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11082615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139723007","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}