Movement Disorders Clinical Practice最新文献

{"title":"The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.","authors":"Mukesh Kumar, Srishti Sharma, Sanjay Pandey, Geetha Mammayil, Aslam Pala Kuzhiyil, Srijaya Sreesh, Riyaz Arakkal, Divya M Radhakrishnan, Roopa Rajan, Deepak Amalnath, Reena Gulati, Naresh Tayade, Shine Sadasivan, Arun Valsan, Jagadeesh Menon, Mahesh Kamate, Sandeep Kumar Mathur, Radha Mahadevan, Bhavna Dhingra, Rajneesh Rajan, Kuldeep Singh, Shalimar, Suja K Geevarghese, Vikram S Kumar, John Menachery, Aminu Aliyar, Rahul C Bhoyar, Bani Jolly, Abhinav Jain, Arvinden Vittal Rangan, Trisha Moitra, Aditi Mhaske, Vishu Gupta, Vigneshwar Senthivel, Anushree Mishra, Arti Saini, Utkarsh Gaharwar, Sridhar Sivasubbu, Vinod Scaria, Binukumar B K","doi":"10.1002/mdc3.14266","DOIUrl":"https://doi.org/10.1002/mdc3.14266","url":null,"abstract":"<p><strong>Background: </strong>Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.</p><p><strong>Objectives: </strong>In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.</p><p><strong>Methods: </strong>A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing. The study used the InDelible structural variants calling pipeline and conducted molecular dynamic simulations on variants of uncertain significance (VUS) in ATP7B AlphaFold protein structures. Additionally, a high-throughput gene screening panel for WD was developed.</p><p><strong>Results: </strong>This study examined 128 clinically diagnosed cases of WD, revealing 74 genetically confirmed cases, 22 with ATP7B variants, and 32 without. Twenty-two novel ATP7B gene variants were identified, including a 322 bp deletion classified as a structural variant. Molecular dynamics simulations highlighted the potential deleterious effects of 11 ATP7B VUS. Gene burden analysis suggested associations with ANO8, LGR4, and CDC7. ATP7B gene hotspots for pathogenic variants were identified. Prevalence and carrier rates were determined as one in 18,678 and one in 67, respectively. A multiplex sequencing panel showed promise for accurate WD diagnosis.</p><p><strong>Conclusions: </strong>This study offers crucial insights into WD's genetic variations and prevalence in India, addressing its underdiagnosis. It highlights the novel genetic variants in the ATP7B gene, the involvement of other genes, a scalable, cost-effective multiplex sequencing panel for WD diagnosis and management and promising advancements in WD care.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624352","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":"A Leaving Note from the Editors of Movement Disorders Clinical Practice.","authors":"Kailash P Bhatia, Marcelo Merello","doi":"10.1002/mdc3.14263","DOIUrl":"https://doi.org/10.1002/mdc3.14263","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624285","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":"Rescue Pallidotomy for Chorea Paralytica.","authors":"Farsana Mustafa, Shiny Joy, Kota Ravi Chandra, Nihal Ahemad, Anu Gupta, Venugopalan Y Vishnu, Mamta B Singh, Rohit Bhatia, Yashdeep Gupta, Manmohan Singh, Madakasira Vasantha Padma, Kanwaljeet Garg, Roopa Rajan","doi":"10.1002/mdc3.14261","DOIUrl":"https://doi.org/10.1002/mdc3.14261","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624344","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":"Pregnancy in Dystonia or Tourette's Patients with DBS. Fourteen News Cases and a Review of the Literature.","authors":"Raja Mehanna, Arjun Tarakad, Lisa Yutong Taneff, Erin Furr Stimming","doi":"10.1002/mdc3.14272","DOIUrl":"https://doi.org/10.1002/mdc3.14272","url":null,"abstract":"<p><strong>Background: </strong>Deep Brain Stimulation (DBS) has been demonstrated to improve quality of life in patients with refractory dystonia and Tourette's syndrome (TS). Because of the young age at onset of these disorders, and the marked benefit from DBS, pregnancy in patients who have received DBS is becoming a more frequent clinical occurrence, although clear management guidelines are lacking.</p><p><strong>Cases: </strong>We report 14 new pregnancies in patients with dystonia or TS and DBS.</p><p><strong>Literature review: </strong>Upon review of the literature, 23 pregnancies in patients with dystonia or TS were previously reported in seven articles.</p><p><strong>Conclusion: </strong>Based on the available data from a total of 37 pregnancies, DBS does not seem associated with worse pregnancy outcome. However, careful planning and communication between neurologist, anesthesiologist and obstetrician are key. A registry on pregnancy outcome in patients with DBS should be generated to facilitate the development of guidelines.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624333","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":"Imaging Findings of Intracerebral Infection after Deep Brain Stimulation: Pediatric Case Series and Literature Review.","authors":"Andrew Z Yang, Alexandre Boutet, Vivek Pai, Michael J Colditz, Artur Vetkas, Brendan Santyr, Nardin Samuel, Jurgen Germann, Sara Breitbart, Lior Elkam, Birgit Ertl-Wagner, Alfonso Fasano, Andres M Lozano, George M Ibrahim, Carolina Gorodetsky","doi":"10.1002/mdc3.14251","DOIUrl":"https://doi.org/10.1002/mdc3.14251","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624293","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":"Tremor Is Highly Responsive to Levodopa in Advanced Parkinson's Disease.","authors":"Bart E K S Swinnen, Henrieke L Frequin, Yarit Wiggerts, Alberto J Espay, Martijn Beudel, Rob M A de Bie","doi":"10.1002/mdc3.14262","DOIUrl":"https://doi.org/10.1002/mdc3.14262","url":null,"abstract":"<p><strong>Background: </strong>Tremor in Parkinson's disease (PD) is commonly regarded as less responsive to levodopa than bradykinesia and rigidity, with levodopa-resistant PD tremor considered relatively common.</p><p><strong>Objective: </strong>The aim was to assess the levodopa responsiveness of tremor, bradykinesia, and rigidity in a population with advanced PD.</p><p><strong>Methods: </strong>We performed a retrospective study of 526 people with PD screened for deep brain stimulation.</p><p><strong>Results: </strong>Levodopa's Cohen's d effect sizes were in the same order of magnitude for the 3 cardinal motor symptoms. Proportional improvement in tremor (86.8%) was higher than bradykinesia (45.7%) and rigidity (67.0%) (P < 0.0001). Full resolution was more frequent for tremor (67.9%) than for bradykinesia (0.4%) or rigidity (24.8%) (P < 0.0001). Levodopa-unresponsive tremor, defined as improvement less than 25%, was documented only in 4.0%, as opposed to 19.4% for bradykinesia and 9.8% for rigidity (P < 0.0001).</p><p><strong>Conclusions: </strong>In advanced PD, tremor was more responsive to levodopa than bradykinesia and rigidity, and levodopa-unresponsive tremor was relatively rare.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624355","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":"Basal Ganglia Degeneration following Rapid High-Altitude Ascent.","authors":"Somdattaa Ray","doi":"10.1002/mdc3.14265","DOIUrl":"https://doi.org/10.1002/mdc3.14265","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624289","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":"The \"Writing on the Wall Maneuver\" Reveals the Dystonic Nature of Primary Writing Tremor.","authors":"Roberto Erro, Maria Chiara Malaguti, Alberto Morini, Christian Geroin, Michele Tinazzi","doi":"10.1002/mdc3.14248","DOIUrl":"https://doi.org/10.1002/mdc3.14248","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624346","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":"Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure.","authors":"Fabiana Colucci, Andrea Dardis, Eleonora Pavan, Maurizio Scarpa, Andrea Gozzi, Pietro Antenucci, Marianna Farnè, Marcella Neri, Alessandra Ferlini, Valeria Tugnoli, Annalisa Sechi, Mariachiara Sensi","doi":"10.1002/mdc3.14273","DOIUrl":"https://doi.org/10.1002/mdc3.14273","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605098","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":"Cranial Tremors in Essential Tremor: Prevalence, Anatomic Distribution and Predictors of Occurrence.","authors":"Elan D Louis","doi":"10.1002/mdc3.14271","DOIUrl":"https://doi.org/10.1002/mdc3.14271","url":null,"abstract":"<p><strong>Background: </strong>There are few published data on the prevalence, pattern of anatomic distribution and predictors of various cranial tremors (eg, head, voice, jaw) in essential tremor (ET). Given the high levels of diagnostic misclassification in ET, data on observed clinical patterns would be valuable.</p><p><strong>Objectives: </strong>To assess the prevalence, pattern of anatomic distribution and predictors of occurrence of cranial tremors in ET.</p><p><strong>Methods: </strong>ET cases who enrolled in two studies (respective n's = 301 and 175, total n = 476) underwent a detailed clinical assessment, which included a videotaped neurological examination. A senior movement disorders neurologist reviewed the examination and coded a range of cranial tremors as present or absent.</p><p><strong>Results: </strong>The proportion of cases with any cranial tremor was 57.1% (Study 1) and 73.7% (Study 2). The following patterns emerged: (1) Head only and head + voice were the most commonly observed anatomical distribution of tremor. (2) Jaw tremors were rare, and face and tongue tremors, exceedingly rare. (3) There was a general layering-on of tremor from head to head + voice to head + voice + jaw in more advanced cases. (4) Women were more likely to have head tremors than men, although there was no sex predilection tremor in other locations. (5) The likelihood of cranial tremor increased with greater tremor severity and age but was unrelated to tremor duration.</p><p><strong>Conclusion: </strong>We observed and quantified several patterns in the expression of cranial tremors in ET. Data on such patterns may assist clinicians and researchers in assigning diagnoses.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604922","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}