Movement Disorders Clinical Practice最新文献

{"title":"Prominent Head and Arm Tremor in Late-Onset Pelizaeus-Merzbacher-Like Disease 1.","authors":"Khadija Saghir, Tina Mainka, Lukas L Goede, Johannes Achtzehn, Carolina Gorodetsky, Christos Ganos","doi":"10.1002/mdc3.14320","DOIUrl":"10.1002/mdc3.14320","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"380-382"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932389","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":"Ears of the Lynx on Neuroimaging in a Patient with COQ4-Associated Hereditary Spastic Paraplegia.","authors":"Zhe Yu, Rongfei Wang, Shengyuan Yu, Xiangqing Wang","doi":"10.1002/mdc3.14282","DOIUrl":"10.1002/mdc3.14282","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"386-388"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751349","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":"Randomized Controlled Trial of Transcranial Direct Current Stimulation over the Supplementary Motor Area in Tourette Syndrome.","authors":"Yasamin Mahjoub, Natalia Szejko, Liu Shi Gan, Janet Adesewa Adeoti, Michael A Nitsche, Carmelo M Vicario, Tamara M Pringsheim, Davide Martino","doi":"10.1002/mdc3.14285","DOIUrl":"10.1002/mdc3.14285","url":null,"abstract":"<p><strong>Background: </strong>Transcranial direct current stimulation (tDCS) over the supplementary motor area (SMA) has shown promise in Tourette syndrome (TS), but previous studies were limited in size and stimulation duration.</p><p><strong>Objective: </strong>The aim was to explore the efficacy and safety of multiple sessions of cathodal tDCS over the bilateral SMA on tic severity in TS.</p><p><strong>Methods: </strong>A double-blind, randomized, sham-controlled trial 1 mA cathodal tDCS over bilateral SMA was performed in participants with TS older than 16 years. The intervention involved two 20-min periods of stimulation with either sham or active tDCS per day, over 5 consecutive days, during which participants actively suppressed tics. Tic severity was measured using the Yale Global Tic Severity Scale Total Tic Severity (YGTSS-TTS, primary outcome) score at baseline, day 5 (visit 5), and 1 week later (visit 6). Questionnaires focusing on comorbidities were performed at baseline and visit 6.</p><p><strong>Results: </strong>Twenty-four participants were randomly assigned (12 active, 12 sham; 8 women; median age: 26). We observed a significant effect of visit on YGTSS-TSS, but no significant effect of treatment or treatment × visit interaction emerged. In contrast, a statistically significant effect of the treatment × visit interaction was observed for the motor tic subscore, with significantly larger improvement in the active arm. Furthermore, we detected a significantly larger decrease in premonitory urge intensity at visit 6 after active stimulation. No effect was detected on severity of comorbidities.</p><p><strong>Conclusions: </strong>This preliminary study suggests that bilateral tDCS over the SMA provides small, but significant benefits in reducing motor tic severity in TS.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"313-324"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755492","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":"Subthalamic Local Field Potential Monitoring in Parkinson's Disease during Epidural Electric Spinal Cord Stimulation.","authors":"Rafael Bernhart Carra, Anna Letícia Moraes de Alves, Ricardo Ferrareto Iglesio, Luiz Ricardo Trajano da Silva, Diogo Coutinho Soriano, Fábio Godinho, Kleber Paiva Duarte, Manoel Jacobsen Teixeira, Egberto Reis Barbosa, Rubens Gisbert Cury","doi":"10.1002/mdc3.14288","DOIUrl":"10.1002/mdc3.14288","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"389-391"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770689","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":"Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the MDS Clinical Neurophysiology Study Group.","authors":"Anna Latorre, Christos Ganos, Masashi Hamada, Nicolas Phielipp, Lorenzo Rocchi, Shabbir Merchant, Marina A Tijssen, Sterre van der Veen, Robert Chen","doi":"10.1002/mdc3.14306","DOIUrl":"10.1002/mdc3.14306","url":null,"abstract":"<p><strong>Background: </strong>Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and reliability of these tests have been questioned.</p><p><strong>Objective: </strong>The aim of this review was to assess the utilization of clinical neurophysiology testing to identify possible gaps and boundaries that might guide the development of new methods for a more precise diagnosis and in-depth understanding of myoclonus.</p><p><strong>Methods: </strong>We reviewed electrophysiological features of cortical myoclonus, subcortical myoclonus (ie, myoclonus associated with dystonia, brainstem myoclonus), excessive startle reflex, spinal myoclonus (ie, spinal segmental and propriospinal myoclonus), peripheral myoclonus and mimics of myoclonus of peripheral origin (hemifacial spasm, minipolymyoclonus, myokymia), functional jerky movements, chorea, and tics.</p><p><strong>Results: </strong>Electrophysiological features that support the recognition of myoclonus subtypes, such as muscle burst duration, muscle pattern of activation, measures of cortical excitability, or movement-related cortical potentials, have been identified. These significantly contribute to the diagnosis of jerky movement disorders, but their reliability is uncertain. Despite the significant advancements, several unresolved questions persist. Factors contributing to this include the absence of systematic neurophysiological assessment and standardized methods, alongside the limited number of patients investigated using these techniques.</p><p><strong>Conclusion: </strong>Although clinical neurophysiology remains the \"gold standard\" for defining and diagnosing myoclonus, our review highlighted the need to enhance the quality and reliability of neurophysiological testing in jerky movement disorders. Further studies including larger cohorts of patients recruited from different centers, employing standardized and optimized electrophysiological techniques, are warranted.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"272-284"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847123","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":"Olfactory Dysfunction-A Potential Biomarker of Neurological Involvement in Wilson's Disease.","authors":"Jan Bembenek, Agnieszka Antos, Anna Członkowska, Tomasz Litwin","doi":"10.1002/mdc3.14303","DOIUrl":"10.1002/mdc3.14303","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"398-399"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847126","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":"Toxin for Tics: Practical Guidance for Clinicians from a Registry-Based Naturalistic Study.","authors":"Tamara Pringsheim, Davide Martino","doi":"10.1002/mdc3.14296","DOIUrl":"10.1002/mdc3.14296","url":null,"abstract":"<p><strong>Background: </strong>Botulinum toxin is a recommended treatment for tics. There is little practical guidance on the use of this treatment.</p><p><strong>Objectives: </strong>Our aim is to describe our experience using botulinum toxin injections for tics in adults. We provide information on tics treated, muscles injected, and dosages used to give practical guidance.</p><p><strong>Methods: </strong>We analyzed data from the Calgary Adult Tic Registry on tic severity, the tics and muscles injected, and dosages. We assessed treatment length, reasons for discontinuation, and concurrent medications.</p><p><strong>Results: </strong>Botulinum toxin was the most used medication for tics, received by 32 of 95 (33.7%) registry participants. Participants receiving botulinum toxin were significantly older and had significantly lower vocal tic severity and total tic severity. The most common motor tics treated were blinking, head turns, and shoulder raising. The mean length of treatment was 40.4 months.</p><p><strong>Conclusions: </strong>Botulinum toxin is an effective and well-tolerated treatment for adults with tics.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"353-357"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792000","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":"Quantifying Social Connectedness in Parkinson's Disease: Reliability and Validity of a Clinical Assessment Toolkit.","authors":"David Andrés González, Michelle Hyczy de Siqueira Tosin, Tila Warner-Rosen, Christopher G Goetz","doi":"10.1002/mdc3.14298","DOIUrl":"10.1002/mdc3.14298","url":null,"abstract":"<p><strong>Background: </strong>Loneliness and isolation impact health detrimentally but are understudied in Parkinson's disease (PD). Outcome measurement properties for social connection remain unexplored in PD.</p><p><strong>Objective: </strong>To evaluate the measurement properties of six social connection outcomes in PD.</p><p><strong>Methods: </strong>We evaluated internal consistency, structural validity, and construct validity for measures of loneliness (brief UCLA Loneliness Scale [ULS3], short and long de Jong Gierveld Loneliness Scale [dJGLS], social isolation [Cohen Social Network Index-SNI total people, SNI high contact networks], and social support brief Perceived Social Support Scale [PSS]).</p><p><strong>Results: </strong>We administered measures to 178 PD participants (M_age = 67.9; 81.5% at Hoehn & Yahr stage 2). There was strong internal consistency, content validity across outcomes, and a 1-factor structure (PSS, ULS3) and a 2-factor structure (dJGLS) for two measures each.</p><p><strong>Conclusions: </strong>We provide a toolbox for clinicians and researchers studying social connection in PD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"358-363"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818774","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 69-Year-Old Male with Subacute Gait Disturbance-Blastocystis hominis Causing Extensive Colitis with Thiamine Deficiency.","authors":"Yi-Cheng Tai, Malan Edward, Chin-Hsien Lin","doi":"10.1002/mdc3.70023","DOIUrl":"https://doi.org/10.1002/mdc3.70023","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polygenic Risk Score Combined with Transcranial Sonography Refines Parkinson's Disease Risk Prediction.","authors":"Mart Kals, Anu Reigo, Maris Teder-Laving, Mariliis Vaht, Tiit Nikopensius, Andres Metspalu, Toomas Toomsoo","doi":"10.1002/mdc3.70011","DOIUrl":"https://doi.org/10.1002/mdc3.70011","url":null,"abstract":"<p><strong>Background: </strong>Dopaminergic neuron depletion in the substantia nigra (SN) and the pathological aggregation of α-synuclein are the neuropathological hallmarks of Parkinson's disease (PD).</p><p><strong>Objectives: </strong>This study aimed to investigate the association between the polygenic risk score for PD (PD-PRS) and transcranial sonography (TCS)-measured SN hyperechogenicity to enhance the accuracy of PD susceptibility prediction.</p><p><strong>Methods: </strong>PD-PRSs were calculated for over 41,000 Estonian Biobank participants age 55+ years without a PD diagnosis. Participants in the highest and lowest PD-PRS percentiles (n = 222) underwent TCS measurements and Sniffin' sticks olfactory testing. A multivariable logistic regression model was used to examine the associations between PD-PRS, risk and prodromal markers, and SN hyperechogenicity.</p><p><strong>Results: </strong>Data from 204 participants with TCS measurements were analyzed, including 107 individuals in the high-risk PD-PRS group and 97 in the low-risk PD-PRS group. Incorporating PD-PRS group assignment improved the explained variance in SN hyperechogenicity from 17.2% to 31.9%. Participants in the low-risk PD-PRS group had 0.16 times lower odds (95% confidence interval (CI) = 0.07-0.35, P < 0.001) of developing SN hyperechogenicity compared to high-risk PD-PRS individuals. Each unit increase in the Sniffin' sticks olfactory test score was significantly associated with reduced odds of SN hyperechogenicity (adjusted odds ratio = 0.60, 95% CI = 0.47-0.78, P = 0.002).</p><p><strong>Conclusions: </strong>Our findings indicate that TCS-measured SN hyperechogenicity is associated with PD-PRS and olfactory impairment. This combined assessment may improve early diagnosis of prodromal PD by pinpointing individuals at increased risk.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}