Movement Disorders Clinical Practice最新文献

{"title":"KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.","authors":"Emmanuel Roze, Laura Silveira-Moriyama, Smaranda Leu-Semenescu, Nathalie Villeneuve, Bérénice Lecardonnel, Marie-Céline François-Heude, Pierre Meyer, Claudio M de Gusmao, Agathe Roubertie","doi":"10.1002/mdc3.14289","DOIUrl":"10.1002/mdc3.14289","url":null,"abstract":"<p><strong>Background: </strong>KCNMA1-linked channelopathy is characterized by neurodevelopmental disorder, epileptic seizures and non-epileptic paroxysmal episodes.</p><p><strong>Objectives: </strong>To describe the phenotype of paroxysmal non-epileptic episodes related to KCNMA1 pathogenic variants.</p><p><strong>Methods: </strong>Videos of paroxysmal episodes were reviewed according to a standardized protocol by a group of movement disorders experts.</p><p><strong>Results: </strong>Fourteen videos were reviewed (6 previously published patients and a new patient). The typical pattern of an episode was (i) facial changes including dyskinetic movements of tongue and jaws (ii) behavioral arrest (iii) loss of postural reflexes that could be associated with focal body stiffness, eventually leading to fall (iv) rapid recovery without post-ictal drowsiness. Attacks were brief, with a high daily frequency, occasionally triggered by emotion, and dramatically improved by psychostimulant therapy in three patients.</p><p><strong>Conclusions: </strong>KCNMA1-related attacks are clearly distinguishable from paroxysmal dyskinesia, cataplexy or episodic ataxia indicating a unique phenomenological entity whose recognition will enhance accurate diagnosis and treatment.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"215-225"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770554","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":"Neurophysiological Features of Tremor during Walking in Parkinson's Disease.","authors":"Matteo Costanzo, Francesco Marchet, Giorgio Leodori, Carolina Cutrona, Maria Ilenia De Bartolo, Giorgio Vivacqua, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli, Daniele Belvisi","doi":"10.1002/mdc3.14293","DOIUrl":"10.1002/mdc3.14293","url":null,"abstract":"<p><strong>Background: </strong>In Parkinson's Disease (PD), upper limb tremor during walking (TW) is observed and clinical observations suggest it may represent a variant of rest tremor. However, its neurophysiological characteristics remain unexplored.</p><p><strong>Objectives: </strong>This study compared the neurophysiological features of TW with other PD tremors and tested whether TW arises from reduced ipsilateral arm swing.</p><p><strong>Methods: </strong>Inertial measurement units were used to measure frequency and amplitude of tremors and arm swing during walking in 25 PD patients.</p><p><strong>Results: </strong>TW shared a similar frequency with rest and re-emergent tremor (RET) but showed significantly greater amplitude. A positive correlation was observed between the amplitude and frequency of TW with those of rest and RET on the same side. TW distribution was unrelated to reduced arm swing during walking, suggesting TW is not due to decreased ipsilateral arm movement.</p><p><strong>Conclusions: </strong>These findings suggest that walking may act as a provocation maneuver, triggering rest tremor.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"226-230"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770688","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":"Patient Perspectives on Upper-Limb Daily Function in Parkinson's Disease.","authors":"Noa Cohen, Rachel Kizony","doi":"10.1002/mdc3.14277","DOIUrl":"10.1002/mdc3.14277","url":null,"abstract":"<p><strong>Background: </strong>Dexterity impairments are common among people with Parkinson's disease (PWP), yet little is understood about the effect of upper-limb (UL) dysfunction on daily activity performance.</p><p><strong>Objectives: </strong>The aims were to (1) map the dexterity activities most affected and meaningful to PWP; (2) explore the associations between perceived dexterity function and disease severity, cognitive and motor UL impairments, dexterity ability, self-reported activities of daily living (ADL) function, and quality of life (QOL); (3) investigate variables explaining perceived dexterity function; and (4) examine the differences in perceived dexterity function based on dominance affectedness.</p><p><strong>Methods: </strong>A total of 43 PWP (mean age = 70.00 years, standard deviation [SD] = 6.75) were assessed for perceived dexterity function (36-item Dexterity Questionnaire [DextQ-36]), dexterity ability (Coin Rotation Task), disease severity (modified Hoen and Yahr Scale), self-reported ADL function and motor UL impairments (Movement Disorder Society-Unified Parkinson's Disease Rating Scale), cognition (Montreal Cognitive Assessment), and QOL (Parkinson's Disease Questionnaire-39).</p><p><strong>Results: </strong>The leading dexterity activities participants reported as difficult and meaningful included using a touchscreen, pulling on socks, and dialing a phone. Perceived dexterity significantly correlated with self-reported ADL function (r = 0.716), QOL (r = 0.691), disease severity (r = 0.470), and dominant-hand dexterity (r = 0.432). Dexterity ability and disease severity explained 30% of perceived dexterity variance. No differences in perceived dexterity function based on dominance affectedness were found.</p><p><strong>Conclusions: </strong>PWP encounter challenges in complex dexterity tasks that impact their independence. Before interventions focused on UL function are initiated, assessments of PWP should include inquiries about the meaningfulness of challenging dexterity activities.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"196-202"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676199","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":"MR-Guided Focused Ultrasound for the Treatment of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome.","authors":"Jesús García-de Soto, Jessica María Pouso-Diz, Gustavo Fernández-Pajarín, Paula Román-Pena, Amanda Álvarez-Noval, Miguel Blanco-Ulla, Eduardo Arán-Echabe, Begoña Ares, Ángel Sesar","doi":"10.1002/mdc3.14270","DOIUrl":"10.1002/mdc3.14270","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"246-248"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682402","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":"Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.","authors":"Saranya B Gomathy, Animesh Das, Jasmine Parihar, Rajesh Kumar Singh, Deepti Vibha, Manjari Tripathi","doi":"10.1002/mdc3.14250","DOIUrl":"10.1002/mdc3.14250","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"236-238"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583888","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":"Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.","authors":"Luigi M Romito, Fabiana Colucci, Valentina Leta, Celeste Panteghini, Roberta Telese, Gianluca Tolva, Roberta Villa, Antonio E Elia, Roberto Eleopra, Angela Peron, Barbara Garavaglia, Maria Iascone","doi":"10.1002/mdc3.14246","DOIUrl":"10.1002/mdc3.14246","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"239-241"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142504558","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 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":"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":"185-195"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802660/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progression of Dopaminergic Therapy Changes in Parkinson's Disease in Asian and Native Hawaiian and Pacific Islander Populations.","authors":"Kirra Borrello, Shay Nakahira, Paul Fontana, Darrel Guittu, Chanel Hunter, Anson Lee, Julia Jahansooz, Edward Weldon, Meliza Roman, Hyeong Jun Ahn, Enrique Carrazana, Kore Liow","doi":"10.1002/mdc3.14280","DOIUrl":"10.1002/mdc3.14280","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"255-257"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648469","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":"Basal Ganglia and Prominent Cortical Contouring Calcification in SLC20A2-Related Primary Familial Brain Calcification.","authors":"Elisabeth T Boudriot, Nicolin Hainc, Bettina Balint","doi":"10.1002/mdc3.14299","DOIUrl":"10.1002/mdc3.14299","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"258-259"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792069","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":"Examining Agreement in Psychotic Symptom Assessment: Insights from Parkinson's Disease Dementia Dyads.","authors":"Blake Beehler, Michelle H S Tosin, Glenn T Stebbins, Christopher G Goetz","doi":"10.1002/mdc3.14225","DOIUrl":"10.1002/mdc3.14225","url":null,"abstract":"<p><strong>Background: </strong>Psychosis and cognitive decline often co-occur in Parkinson's Disease (PD), which complicates assessment.</p><p><strong>Objective: </strong>We measured agreement between patients with PD and dementia (PDD) and care partners (CPs) in their independent evaluation of PD-related psychotic symptoms.</p><p><strong>Methods: </strong>We compared responses to a PD psychosis rating scale (SAPS-PD) in 21 dyads of patients with PDD and cognitively normal CPs. We assessed the concordance of responses using the intraclass correlation coefficient (ICC). Following the psychosis assessment, the clinician used all available information and adjudicated who provided the most reliable responses.</p><p><strong>Results: </strong>Dyads demonstrated poor concordance in summary scores (ICC = 0.464). Six of the nine individual items had poor agreement. The clinician adjudicated the patient's response as the more reliable in 71.4% of cases.</p><p><strong>Conclusions: </strong>Although many psychotic symptoms are internal and not observable, in the context of PDD, both patient and CP inputs are valuable, but final adjudication favors patient responses.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"210-214"},"PeriodicalIF":2.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11802653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391981","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}