Movement Disorders Clinical Practice最新文献

{"title":"mGlur5 Encephalitis Causing Myoclonus-Ataxia Syndrome and Psychosis: A Case Report.","authors":"Philippe A Salles, Osvaldo Trujillo-Godoy, Prudencio Lozano-Iraguen, Pedro Chaná-Cuevas","doi":"10.1002/mdc3.14136","DOIUrl":"10.1002/mdc3.14136","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11322582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458124","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":"Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.","authors":"Pablo Ros-Arlanzón, Blanca Serrano-Serrano, Carlos Aledo-Sala, Natasha Guevara-Dalrymple, Silvia Martí-Martínez","doi":"10.1002/mdc3.14128","DOIUrl":"10.1002/mdc3.14128","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179884","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 Pragmatic Review on Spinal Cord Stimulation Therapy for Parkinson's Disease Gait Related Disorders: Gaps and Controversies.","authors":"Victor S Hvingelby, Rafael B Carra, Miriam H Terkelsen, Clement Hamani, Tamine Capato, Zuzana Košutzká, Joachim K Krauss, Elena Moro, Nicola Pavese, Rubens G Cury","doi":"10.1002/mdc3.14143","DOIUrl":"10.1002/mdc3.14143","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's Disease (PD) is a progressive neurological disorder that results in potentially debilitating mobility deficits. Recently, spinal cord stimulation (SCS) has been proposed as a novel therapy for PD gait disorders. The highest levels of evidence remain limited for SCS.</p><p><strong>Objectives: </strong>In this systematic review and narrative synthesis, the literature was searched using combinations of key phrases indicating spinal cord stimulation and PD.</p><p><strong>Methods: </strong>We included pre-clinical studies and all published clinical trials, case reports, conference abstracts as well as protocols for ongoing clinical trials. Additionally, we included trials of SCS applied to atypical parkinsonism.</p><p><strong>Results: </strong>A total of 45 human studies and trials met the inclusion criteria. Based on the narrative synthesis, a number of knowledge gaps and future avenues of potential research were identified. This review demonstrated that evidence for SCS is currently not sufficient to recommend it as an evidence-based therapy for PD related gait disorders. There remain challenges and significant barriers to widespread implementation, including issues regarding patient selection, effective outcome selection, stimulation location and mode, and in programming parameter optimization. Results of early randomized controlled trials are currently pending. SCS is prone to placebo, lessebo and nocebo as well as blinding effects which may impact interpretation of outcomes, particularly when studies are underpowered.</p><p><strong>Conclusion: </strong>Therapies such as SCS may build on current evidence and be shown to improve specific gait features in PD. Early negative trials should be interpreted with caution, as more evidence will be required to develop effective methodologies in order to drive clinical outcomes.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141427291","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":"Dancing, Lurching and Swaying: An Indian Case of Dentatorubral-Pallidoluysian Atrophy.","authors":"Koustubh Bavdhankar, Neeraj Jain, Mayur Thakkar, Parag Maheshkar, Rishikesh Joshi, Aditya Gudhate, Sangeeta H Ravat, Pankaj A Agarwal","doi":"10.1002/mdc3.14022","DOIUrl":"10.1002/mdc3.14022","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11322590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143871","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":"Sex Differences in Dystonia.","authors":"Gamze Kilic-Berkmen, Laura M Scorr, Lucas McKay, Mehreen Thayani, Yuping Donsante, Joel S Perlmutter, Scott A Norris, Laura Wright, Christine Klein, Jeanne S Feuerstein, Abhimanyu Mahajan, Aparna Wagle-Shukla, Irene Malaty, Mark S LeDoux, Sarah Pirio-Richardson, Alexander Pantelyat, Emile Moukheiber, Samuel Frank, William Ondo, Rachel Saunders-Pullman, Katja Lohmann, Ellen J Hess, H A Jinnah","doi":"10.1002/mdc3.14059","DOIUrl":"10.1002/mdc3.14059","url":null,"abstract":"<p><strong>Background: </strong>Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms.</p><p><strong>Objectives: </strong>To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences.</p><p><strong>Methods: </strong>Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias.</p><p><strong>Results: </strong>The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A).</p><p><strong>Conclusions: </strong>These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141081597","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":"The Application of Goal Attainment Scaling in Cervical Dystonia - An Exploratory Observational Pilot Study.","authors":"Máté Szabó, Gabriella Gárdián, László Szpisjak, András Salamon, Tamás Gábor, Péter Klivényi, Dénes Zádori","doi":"10.1002/mdc3.14118","DOIUrl":"10.1002/mdc3.14118","url":null,"abstract":"<p><strong>Background: </strong>Due to its heterogeneous manifestation an individualized approach to reach therapeutic goals in cervical dystonia (CD) is advantageous.</p><p><strong>Objectives: </strong>The aim of the current study was to adapt goal attainment scaling (GAS) to drive the management of CD.</p><p><strong>Methods: </strong>38 patients with CD, regularly treated with botulinum neurotoxin (BoNT), were involved in the current exploratory observational pilot study. GAS, including domains of motor, pain, disability, and psychiatric features, was applied to set up individualized goals with the calculation of initial GAS T-scores. Following at least 4 BoNT injection cycles, patients were reassessed whether they reached the pre-set goals.</p><p><strong>Results: </strong>The initial GAS T-scores (median: 36.9, range: 22.8-40) significantly improved (P < 0.001) to the end of the study (the median of final GAS T-scores: 50, range: 25.5-63.6).</p><p><strong>Conclusions: </strong>The applicability of GAS in CD patients was confirmed, but further large-scale studies are needed refining this innovative approach.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200112","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":"Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association.","authors":"Vikram V Holla, Sandeep Gurram, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal","doi":"10.1002/mdc3.13963","DOIUrl":"10.1002/mdc3.13963","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11322591/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139502745","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":"Outcomes of Percutaneous Endoscopic Gastrostomy in Huntington's Disease at a Tertiary Center.","authors":"Mena Farag, Annabelle Coleman, Harry Knights, Michael J Murphy, Sangeerthana Rajagopal, Alexiane Touzé, Maryam Shoai, Cara Hearst, Desiree M Salanio, Edward J Wild, Sarah J Tabrizi","doi":"10.1002/mdc3.14130","DOIUrl":"10.1002/mdc3.14130","url":null,"abstract":"<p><strong>Background: </strong>Clinically assisted nutrition and hydration via percutaneous endoscopic gastrostomy (PEG) is a therapeutic option to ameliorate the difficulties associated with enhanced catabolism, weight loss, and dysphagia in Huntington's disease (HD).</p><p><strong>Objectives: </strong>The objective is to provide insights into demographics, staging (Shoulson-Fahn), complications, weight trajectories, and survival rates in people with HD (pwHD) who underwent PEG.</p><p><strong>Methods: </strong>This retrospective study included 705 consecutive pwHD who attended our HD clinic between July 2006 and March 2024, of whom 52 underwent PEG. A control group (n = 52), comprising pwHD without PEG, were closely matched for sex, stage, age, CAG length, and disease burden score at PEG. The study was registered as a service evaluation at the National Hospital for Neurology and Neurosurgery.</p><p><strong>Results: </strong>PEG prevalence was 15.0% (n = 52/347) among manifest pwHD: 4.8% (n = 3/62) for Stage 3; 33.3% (n = 16/48) for stage 4; and 44.1% (n = 30/68) for stage 5. Commonest indications were dysphagia, weight loss, and inadequate oral intake. Complications included chest infection, tube dislodgement, and peristomal and skin infections. Modeling of weight trajectories after PEG found no difference between PEG and non-PEG groups. Mortality rate was 34.6% (n = 18/52) in the PEG and 36.5% (n = 19/52) in the non-PEG groups (P = 0.84). Treatment duration (until study endpoint or death) was 3.48 years (interquartile range = 1.71-6.02; range = 0.23-18.8), with 65.4% (n = 34/52) alive at the study endpoint.</p><p><strong>Conclusion: </strong>PEG in pwHD at-risk for weight loss may help slow weight loss. Prospective studies are required to strengthen PEG decision-making in pwHD. PEG survival was much longer than other dementias, highlighting the need to consider PEG independently in pwHD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296466","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":"Preface to the Fifth MDS Video Challenge Case Supplement for Movement Disorders Clinical Practice.","authors":"Sanjay Pandey, Carmen Gasca-Salas","doi":"10.1002/mdc3.14162","DOIUrl":"10.1002/mdc3.14162","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11322586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141580341","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":"Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings.","authors":"Lakshmi J Nair, Asish Vijayaraghavan","doi":"10.1002/mdc3.14067","DOIUrl":"10.1002/mdc3.14067","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11329563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916560","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}