Movement Disorders Clinical Practice最新文献

{"title":"Patients with Wilson's Disease Are Insensitive to Sulfur Odors.","authors":"Antje Haehner, Ulrike Reuner, Maira H Nagai, Yehya Sheikh Alkar, Hiroaki Matsunami, Thomas Hummel","doi":"10.1002/mdc3.14233","DOIUrl":"https://doi.org/10.1002/mdc3.14233","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470506","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":"Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.","authors":"Maria Leila M Doquenia, Alfand Marl F Dy Closas, Shela Marie Algodon, Rachel Suarez-Uy, Arlene Ng, Björn-Hergen Laabs, Ana Westenberger, Norbert Brüggemann, Raymond L Rosales, Roland Dominic Jamora, Christine Klein","doi":"10.1002/mdc3.14193","DOIUrl":"https://doi.org/10.1002/mdc3.14193","url":null,"abstract":"<p><strong>Background: </strong>X-linked dystonia-parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and the Greater Manila area. However, individuals residing in geographically distant regions may exhibit different clinical or genetic characteristics compared to those documented in earlier reports.</p><p><strong>Objective: </strong>The aim was to investigate the relationship of XDP clinical features in a Mindanao cohort with modifiers of age at onset (AAO) variability and utilization of a previously reported AAO model.</p><p><strong>Methods: </strong>We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.</p><p><strong>Results: </strong>The XDP-relevant hexanucleotide repeat number significantly correlated with AAO in the 27 patients and explained about 68% of AAO variability. There is no statistical difference between the predicted and actual AAO.</p><p><strong>Conclusion: </strong>The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470501","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":"Natural History of Dystonia in SYNE1 Ataxia: A Clinical, Imaging and Neurophysiological Observation.","authors":"Cristina Saade Jaques, Maria Thereza Drumond Gama, Ricardo Araújo de Oliveira, Thiago J R Rezende, Thiago Yoshinaga Tonholo Silva, Marcondes Cavalcante França, Marcio Luiz Escórcio Bezerra, Orlando G P Barsottini, José Luiz Pedroso","doi":"10.1002/mdc3.14224","DOIUrl":"https://doi.org/10.1002/mdc3.14224","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391983","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":"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":"https://doi.org/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":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing Cough Motor Learning in Parkinson's Disease Through Variable Practice During Skill Training.","authors":"James C Borders, Katya Villarreal-Cavazos, Jessica E Huber, Lori Quinn, Bryan Keller, Michelle S Troche","doi":"10.1002/mdc3.14218","DOIUrl":"https://doi.org/10.1002/mdc3.14218","url":null,"abstract":"<p><strong>Background: </strong>When re-learning a motor skill, practicing a variety of treatment targets promotes error processing and the exploration of motor control strategies, which initially disrupts accuracy during training (motor performance), but ultimately enhances generalization, retention, and transfer (motor learning). Cough skill training (CST) is feasible and efficacious to improve cough strength; however, previous studies have used the same practice target during training.</p><p><strong>Objectives: </strong>Our goal was to examine the impact of CST with variable practice on motor performance, motor learning, and respiratory system adaptations.</p><p><strong>Method: </strong>The study was a prospective three-visit single group design. Twenty individuals with Parkinson's disease (PD) and concomitant dysphagia and dystussia completed two sessions of CST involving three randomized practice targets. Cough, lung volume, and airway clearance outcomes were assessed before and after treatment sessions with long-term retention evaluated after 1 month.</p><p><strong>Results: </strong>Peak expiratory flow rate improved after CST with variable practice for voluntary single (β = 0.35 L/s) and sequential (β = 0.22 L/s) cough, which were maintained after 1 month without treatment. The ability to expel material from the upper airway demonstrated a small magnitude of improvement (β = -1.87%). During CST, participants altered lung volume based on the treatment target and lung volume decreased during reflex cough after completing CST.</p><p><strong>Conclusions: </strong>Individuals with PD demonstrated improvements in several aspects of motor learning after two sessions of CST with variable practice. Increasing lung volume may not be an implicit strategy to upregulate voluntary cough strength in this treatment paradigm. The findings support the need for larger investigations exploring the potential benefits of this CST approach.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391980","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":"Interdisciplinary Consensus in Evaluating the Severity Subscale of the Original and Revised Toronto Western Spasmodic Torticollis Rating Scale Through Video-Based Assessment: An Inter-Rater Reliability Study.","authors":"Shimelis Girma Kassaye, Joke De Pauw, Ségolène De Waele, Willem De Hertogh, Esayas Kebede Gudina, David Crosiers","doi":"10.1002/mdc3.14222","DOIUrl":"10.1002/mdc3.14222","url":null,"abstract":"<p><strong>Background: </strong>Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) is widely employed for cervical dystonia (CD) evaluation.</p><p><strong>Objective: </strong>To assess the inter-rater reliability of the severity subscale of the original and revised TWSTRS using video recordings.</p><p><strong>Methods: </strong>Three raters, a PhD student with a nursing degree, a physiotherapist specialized in CD, and a neurologist-in-training independently rated all videos. The inter-rater reliability was assessed with the intra-class correlation coefficient (ICC).</p><p><strong>Results: </strong>The total severity score of both tools demonstrated a good inter-rater reliability (ICC = 0.87 to 0.88). The inter-rater reliability of individual sub-items varied from poor (ICC = 0.29) to excellent (ICC = 0.9).</p><p><strong>Conclusions: </strong>The total severity score of both TWSTRS showed good inter-rater reliability in a multidisciplinary team, indicating their applicability for online patients' assessment. We recommend using the total subscale for outcome comparison. Furthermore, there is a need for more accurate definitions of duration factor and shoulder elevation.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391982","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":"Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.","authors":"Luca Schierbaum, Vicente Quiroz, Amy Tam, Umar Zubair, Laura Tochen, Rasha Srouji, Kathryn Yang, Darius Ebrahimi-Fakhari","doi":"10.1002/mdc3.14226","DOIUrl":"https://doi.org/10.1002/mdc3.14226","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375692","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":"Quantitative Tractography-Based Evaluations in Essential Tremor Patients after MRgFUS Thalamotomy.","authors":"Francesco Ghielmetti, Domenico Aquino, Nico Golfrè Andreasi, Federica Mazzi, Elena Greco, Roberto Cilia, Elena De Martin, Sara Rinaldo, Mario Stanziano, Vincenzo Levi, Arianna Braccia, Marcello Marchetti, Maria L Fumagalli, Greta Demichelis, Fabiana Colucci, Luigi Michele Romito, Grazia Devigili, Antonio E Elia, Valentina Caldiera, Mattia Verri, Elisa Francesca Ciceri, Francesco Di Meco, Marina Grisoli, Maria Grazia Bruzzone, Roberto Eleopra","doi":"10.1002/mdc3.14219","DOIUrl":"https://doi.org/10.1002/mdc3.14219","url":null,"abstract":"<p><strong>Background: </strong>Magnetic resonance-guided focused ultrasound (MRgFUS) targeting the thalamic ventral intermediate nucleus (VIM) is an innovative treatment for drug-refractory essential tremor (ET). The relationship between lesion characteristics, dentate-rubro-thalamic-tract (DRTT) involvement and clinical benefit remains unclear.</p><p><strong>Objectives: </strong>To investigate whether clinical outcome is related to lesion volume and/or its overlap with the DRTT. To compare the reliability of probabilistic versus deterministic tractography in reconstructing the DRTT and improving VIM targeting.</p><p><strong>Methods: </strong>Forty ET patients who underwent MRgFUS thalamotomy between 2019 and 2022 were retrospectively analyzed. Clinical outcomes and adverse effects were recorded at 1/6/12 months after the procedure. The DRTT was generated using deterministic and probabilistic tractography on preoperative diffusion-tensor 3 T-images and location and volume of the lesion were calculated.</p><p><strong>Results: </strong>Probabilistic tractography identified both decussating (d-DRTT) and non-decussating (nd-DRTT) components of the DRTT, whereas the deterministic approach only identified one component overlapping with the nd-DRTT. Despite the lesions predominantly intersecting the medial portion of the d-DRTT, with a significantly greater overlap in responder patients, we observed only a non-significant correlation between tremor improvement and increased d-DRTT-lesion overlap (r = 0.22, P = 0.20). The lesion volume demonstrated a significant positive correlation with clinical improvement at 1-day MRI (r = 0.42, P < 0.01).</p><p><strong>Conclusion: </strong>Variability in the reconstructed DRTT position relative to the lesion center of mass, even among good responders, suggests that this fiber bundle is unlikely to be considered the sole target for a successful MRgFUS thalamotomy in ET. Indirect individualized targeting allows for more precise and reproducible identification of actual treatment coordinates than the direct method.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375694","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":"Pediatric Huntington Disease Brains Have Distinct Morphologic and Metabolic Traits: the RAREST-JHD Study.","authors":"Maria Eugenia Caligiuri, Emanuele Tinelli, Patrizia Vizza, Giulia Giancaterino, Francesco Cicone, Giuseppe Lucio Cascini, Umberto Sabatini, Ferdinando Squitieri","doi":"10.1002/mdc3.14223","DOIUrl":"https://doi.org/10.1002/mdc3.14223","url":null,"abstract":"<p><strong>Background: </strong>Pediatric-onset Huntington's disease (POHD) exhibits a phenotype different from adult-onset HD (AOHD), with hypokinetic movement disorders (eg, rigidity, bradykinesia, and dystonia) rather than chorea typical of AOHD.</p><p><strong>Objectives: </strong>The aim was to identify pathophysiology-based biomarkers specific to POHD (≥60 CAG repeats).</p><p><strong>Methods: </strong>Simultaneous hybrid imaging using [¹⁸F]fluoro-2-deoxy-d-glucose (FDG) positron emission tomography plus magnetic resonance imaging (FDG-PET/MRI) and clinical assessment using standardized Huntington's disease (HD) scales were employed. Exploratory longitudinal analyses were also performed.</p><p><strong>Results: </strong>Striatal volume loss was remarkable and more severe in POHD (n = 5) than in AOHD (n = 14). Widespread, significantly altered glucose metabolism occurred in several different POHD cortical areas and thalamus, but not AOHD cortex, consistent with differences in clinical progression.</p><p><strong>Conclusions: </strong>POHD patients' brains exhibited distinct morphologic and metabolic traits compared to AOHD patients' brains, with longitudinal changes mirroring clinical progression. Hybrid FDG-PET/MRI highlighted a variable regional brain dysfunction in vivo, as a biological consequence of highly expanded CAG repeats. Findings provide further evidence that POHD is a distinct disease from AOHD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375693","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":"Early-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.","authors":"Jiuqi Yan, Xinyi He, Chang Qiu, Yue Lu, Liang Zhao, Bei Luo, Wenwen Dong, Jian Sun, Lei Chang, Xiang Wei, Jun Yan, Wenbin Zhang","doi":"10.1002/mdc3.14221","DOIUrl":"https://doi.org/10.1002/mdc3.14221","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365877","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}