Movement Disorders最新文献

{"title":"Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.","authors":"Hui Wang, Timothy S Chang, Beth A Dombroski, Po-Liang Cheng, Ya-Qin Si, Albert Tucci, Vishakha Patil, Leopoldo Valiente-Banuet, Chong Li, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C Van Swieten, Elise Dopper, Bernardino F Ghetti, Kathy L Newell, Claire Troakes, Justo G de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G Beach, Geidy E Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A Ross, Douglas Galasko, Adam L Boxer, Bruce L Miller, Willian W Seeley, Vivianna M Van Deerlin, Edward B Lee, Charles L White, Huw R Morris, Rohan de Silva, John F Crary, Alison M Goate, Jeffrey S Friedman, Yaroslau Compta, Yuk Yee Leung, Giovanni Coppola, Adam C Naj, Li-San Wang, Clifton Dalgard, Dennis W Dickson, Günter U Höglinger, Jung-Ying Tzeng, Daniel H Geschwind, Gerard D Schellenberg, Wan-Ping Lee","doi":"10.1002/mds.30150","DOIUrl":"10.1002/mds.30150","url":null,"abstract":"<p><strong>Background: </strong>The 17q21.31 region with various structural forms characterized by the H1/H2 haplotypes and three large copy number variations (CNVs) represents the strongest risk locus in progressive supranuclear palsy (PSP).</p><p><strong>Objective: </strong>To investigate the association between CNVs and structural forms on 17q.21.31 with the risk of PSP.</p><p><strong>Methods: </strong>Utilizing whole genome sequencing data from 1684 PSP cases and 2392 controls, the three large CNVs (α, β, and γ) and structural forms within 17q21.31 were identified and analyzed for their association with PSP.</p><p><strong>Results: </strong>We found that the copy number of γ was associated with increased PSP risk (odds ratio [OR] = 1.10, P = 0.0018). From H1β1γ1 (OR = 1.21) and H1β2γ1 (OR = 1.24) to H1β1γ4 (OR = 1.57), structural forms of H1 with additional copies of γ displayed a higher risk for PSP. The frequency of the risk sub-haplotype H1c rises from 1% in individuals with two γ copies to 88% in those with eight copies. Additionally, γ duplication up-regulates expression of ARL17B, LRRC37A/LRRC37A2, and NSFP1, while down-regulating KANSL1. Single-nucleus RNA-seq of the dorsolateral prefrontal cortex analysis reveals γ duplication primarily up-regulates LRRC37A/LRRC37A2 in neuronal cells.</p><p><strong>Conclusions: </strong>The copy number of γ is associated with the risk of PSP after adjusting for H1/H2, indicating that the complex structure at 17q21.31 is an important consideration when evaluating the genetic risk of PSP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated Choreic Manifestations Indicative of Anti-Amphiphysin Antibody-Related Encephalitis in Breast Cancer.","authors":"Stela Dodaj, Marie Rafiq, Raquel Barbosa, Chloé Bost, Margherita Fabbri, Clémence Leung, Fabrice Bonnevile, Jérémie Pariente, Fabienne Ory-Magne","doi":"10.1002/mds.30140","DOIUrl":"https://doi.org/10.1002/mds.30140","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia.","authors":"Anna L Burt, Gilbert L'Italien, Susan L Perlman, Liana S Rosenthal, Sheng-Han Kuo, Tetsuo Ashizawa, Theresa Zesiewicz, Cameron Dietiker, Puneet Opal, Antoine Duquette, George R Wilmot, Vikram G Shakkottai, Christopher M Gomez, Sharan R Srinivasan, Henry Paulson, Michael D Geschwind, Sandie Worley, Chiadi U Onyike, Andrew Billnitzer, Amy Ferng, Kristen Matulis, Marie Y Davis, Sub H Subramony, Anoopum Gupta, Christopher D Stephen, Jeremy D Schmahmann","doi":"10.1002/mds.30158","DOIUrl":"https://doi.org/10.1002/mds.30158","url":null,"abstract":"<p><strong>Background: </strong>The Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia) has been validated cross-sectionally but not longitudinally.</p><p><strong>Objective: </strong>We aimed to validate PROM-Ataxia as a measure of patient experience of disease over time, examine overall and domain-specific progression, and test convergent validity with other clinical outcome assessments (COAs).</p><p><strong>Methods: </strong>We derived PROM-Ataxia data from 176 patients with spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, or 10 in the Clinical Research Consortium for the Study of Cerebellar Ataxia at baseline and 1 year. We classified patients' ataxia severity stage (\"severity\") according to the Friedreich's Ataxia Rating Scale Functional Staging into mild, moderate, and severe subgroups. Analyses of the entire cohort and by severity subgroup included internal consistency, sensitivity to disease severity, predictive modeling of score changes, correlations with COAs: Brief Ataxia Rating Scale, Scale for Assessment and Rating of Ataxia, Fatigue Severity Scale, Cerebellar Cognitive Affective Syndrome scale, EuroQol 5-Dimension, and responsiveness to disease progression.</p><p><strong>Results: </strong>The PROM-Ataxia exhibited high internal consistency and correlated with other COAs. Scores demonstrated sensitivity to disease severity and evolving patient experience. Progression was sigmoidal, with the greatest change in moderate patients. Compared with other COAs, PROM-Ataxia captured the most change. Mental features worsened fastest in mild patients, physical in moderate patients, and activities of daily living in severe patients.</p><p><strong>Conclusion: </strong>PROM-Ataxia is more sensitive to change than ataxia COAs, captures the evolution of patients' experience of disease over 1 year, and reveals domain-specific progression. Studies of larger cohorts and different ataxia diagnoses over longer periods may provide insights to further enhance clinical care and research. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143539594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Study of Focused Ultrasound Unilateral Thalamotomy and Subthalamotomy for Medication‐Refractory Parkinson's Disease Tremor","authors":"Steffen Paschen, Elena Natera‐Villalba, José A. Pineda‐Pardo, Marta del Álamo, Rafael Rodríguez‐Rojas, Johannes Hensler, Günther Deuschl, Jose A. Obeso, Ann‐Kristin Helmers, Raúl Martínez‐Fernández","doi":"10.1002/mds.30159","DOIUrl":"https://doi.org/10.1002/mds.30159","url":null,"abstract":"BackgroundUnilateral focused ultrasound ventral intermediate thalamotomy (Vim‐FUS) is effective in treating Parkinson's disease (PD) tremor. Ultrasound ablation of the subthalamic nucleus (STN‐FUS) has demonstrated efficacy in improving all cardinal motor features of PD, including tremor.ObjectiveTo compare the efficacy in parkinsonian tremor control between Vim‐FUS and STN‐FUS.MethodsRetrospective, two‐center study including consecutive PD patients with medication‐refractory tremor who underwent unilateral Vim‐FUS or STN‐FUS between June 2015 and August 2022. Patients scored ≥2 for postural and/or resting tremor on the most affected body side in the off‐medication state. The primary outcome was the between‐group difference in tremor improvement on the treated side at 12‐month follow‐up, including a responder's analysis. Data regarding safety, global motor status, and dopaminergic requirements were also collected. Group comparisons used repeated measures ANOVA with Bonferroni correction; statistical significance for <jats:italic>P</jats:italic> &lt; 0.05.ResultsAmong 175 patients treated at the two sites, 63 were included (23 Vim‐FUS, 40 STN‐FUS). At baseline, both groups were equivalent in disease duration (6.7 ± 3.8 vs. 6.1 ± 3.4 years, <jats:italic>P</jats:italic> = 0.48) and tremor severity (5.7 ± 1.5 vs. 5.9 ± 2.5, <jats:italic>P</jats:italic> = 0.7). While the benefit in tremor was equivalent between the groups at 4 months (<jats:italic>P</jats:italic> = 0.15), tremor reduction was greater in STN‐ FUS patients at 12 months (4.4 ± 2.0, 95% CI 3.7–5.0 compared with 2.7 ± 3.7, 95% CI 1.1–4.3 for Vim‐FUS, <jats:italic>P</jats:italic> = 0.012). In 47.5% (19/40) of STN‐FUS patients tremor was completely abolished versus 8.7% (2/23) in Vim‐FUS patients (<jats:italic>P</jats:italic> &lt; 0.01). Most adverse events were mild (91%) and resolved by 12 months.ConclusionsSTN‐FUS and Vim‐FUS significantly improved medication‐refractory PD tremor; however, subthalamotomy might have greater and more sustained effect. © 2025 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"2 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.","authors":"Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice","doi":"10.1002/mds.30151","DOIUrl":"https://doi.org/10.1002/mds.30151","url":null,"abstract":"<p><p>Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next-generation sequencing (NGS) technologies in both research and clinical settings. However, many likely monogenic disorders still lack an accurate molecular diagnosis, primarily because conventional NGS methods are not effective at detecting structural variants and repeat expansions, both of which are crucial in many neurogenetic diseases. Recently, long-read sequencing (LRS) and optical genome mapping technologies have emerged as powerful tools, offering the ability to capture more complex genetic variations. These technologies have already led to the discovery of novel genes responsible for well-characterized neurodegenerative diseases (ND), enhancing the understanding of the biological underpinning of these conditions. Although currently LRS is mostly used in a research setting, we anticipate broader implementation of these methods in clinical laboratories in the near future. In this review, we explore the contributions of these technologies to ND research and highlight the remaining challenges for future advancements. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143539584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oscillatory Coupling Between Thalamus, Cerebellum, and Motor Cortex in Essential Tremor.","authors":"Alexandra Steina, Sarah Sure, Markus Butz, Jan Vesper, Alfons Schnitzler, Jan Hirschmann","doi":"10.1002/mds.30165","DOIUrl":"https://doi.org/10.1002/mds.30165","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor is hypothesized to emerge from synchronized oscillatory activity within the cerebello-thalamo-cortical circuit. However, this hypothesis has not yet been tested using local field potentials directly recorded from the thalamus alongside signals from both the cortex and cerebellum, leaving a gap in the understanding of essential tremor.</p><p><strong>Objectives: </strong>To clarify the importance of cerebello-thalamo-cortical oscillatory coupling for essential tremor.</p><p><strong>Methods: </strong>We investigated oscillatory coupling between thalamic local field potentials and simultaneously recorded magnetoencephalography in 19 essential tremor patients with externalized deep brain stimulation electrodes. Brain activity was measured while patients repeatedly adopted a tremor-provoking posture and while pouring rice grains from one cup to another. In a whole-brain analysis of coherence between the ventral intermediate nucleus of the thalamus and cortex we contrasted epochs containing tremor and epochs lacking tremor.</p><p><strong>Results: </strong>Both postural and kinetic tremor were associated with an increase of thalamic power and thalamo-cortex coherence at individual tremor frequency in the bilateral cerebellum and primary sensorimotor cortex contralateral to tremor. These areas also exhibited an increase in corticomuscular coherence in the presence of tremor. The coupling of motor cortex to both thalamus and muscle correlated with tremor amplitude during postural tremor.</p><p><strong>Conclusions: </strong>These results demonstrate that essential tremor is indeed associated with increased oscillatory coupling at tremor frequency within a cerebello-thalamo-cortical network, with coupling strength directly reflecting tremor severity. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143539589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beta Burst Characteristics and Coupling within the Sensorimotor Cortical-Subthalamic Nucleus Circuit Dynamically Relate to Bradykinesia in Parkinson's Disease.","authors":"Pan Yao, Abhinav Sharma, Bahman Abdi-Sargezeh, Tao Liu, Huiling Tan, Amelia Hahn, Philip Starr, Simon Little, Ashwini Oswal","doi":"10.1002/mds.30163","DOIUrl":"https://doi.org/10.1002/mds.30163","url":null,"abstract":"<p><strong>Background: </strong>Bursts of exaggerated subthalamic nucleus (STN) beta activity are believed to contribute to clinical impairments in Parkinson's disease (PD). No previous studies have explored burst characteristics and coupling across the sensorimotor cortical-STN circuit and determined their relationship to dynamic measurements of bradykinesia.</p><p><strong>Objective: </strong>We sought to (1) establish the characteristics of sensorimotor cortical and STN bursts during naturalistic behaviors, (2) determine the predictability of STN bursts from motor cortical recordings, and (3) relate burst features to continuous measurements of bradykinesia using wearable sensors.</p><p><strong>Methods: </strong>We analyzed 1046 h of wirelessly streamed bilateral sensorimotor cortical and STN recordings from 5 PD patients with concurrent measurements of bradykinesia.</p><p><strong>Results: </strong>STN bursts were longer than cortical bursts and had shorter inter-burst intervals. Long bursts (>200 ms) in both structures displayed temporal overlap (>30%), with cortical bursts tending to lead STN burst onset by 8 ms. Worsening bradykinesia was linked to increased cortical burst rates and durations, whereas STN burst properties had the opposite effect.</p><p><strong>Conclusion: </strong>Cortical beta bursts tend to precede STN beta bursts with short delays and their occurrence relates to worsening bradykinesia in naturalistic settings. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thalamic Deep Brain Stimulation Versus Magnetic Resonance-Guided Focused Ultrasound in Tremor Patients: A Retrospective Single-Surgeon Comparison.","authors":"Christian Rainer Baumann, Andreas Fleisch, Sujitha Mahendran, Mechtild Uhl, Carola Freudinger, Evdokia Efthymiou, Markus Florian Oertel, Lennart Henning Stieglitz, Fabian Büchele","doi":"10.1002/mds.30153","DOIUrl":"https://doi.org/10.1002/mds.30153","url":null,"abstract":"<p><strong>Background: </strong>Bilateral deep brain stimulation (DBS) and unilateral magnetic resonance-guided focused ultrasound (MRgFUS), with potential future second-side treatment targeting the thalamic ventral intermediate nucleus (VIM), are currently the two best-established interventions for pharmaco-resistant tremors, but treatment selection is hampered by the lack of comparative evidence.</p><p><strong>Objective: </strong>To provide the first direct within-center and within-surgeon comparison between bilateral VIM-DBS and unilateral VIM-MRgFUS, applying consistently timed and elaborated efficacy and safety assessements.</p><p><strong>Methods: </strong>In this retrospective study, we included patients having received bilateral VIM-DBS (n = 30) or unilateral VIM-MRgFUS (n = 52) performed by one single neurosurgeon between 2014 and 2022. Efficacy was primarily measured by the improvement of the Washington Heights-Inwood Genetic Study of Essential Tremor scale in the more affected hand at 6 months. Regarding safety, we compared treatment-, procedure-, and hardware-related adverse events (AEs), graded by impact on activities of daily living (ADLs), and serious AEs (SAEs), retrospectively defined based on prolonged/repeated hospitalizations or persistent symptoms affecting ADLs.</p><p><strong>Results: </strong>We found equivalent tremor reduction in the more affected hand (DBS: 62.4% [41.3-87.9] vs. MRgFUS: 69.4% [42.4-77.7]; P = 0.958), but contralateral and axial tremors improved only with bilateral DBS. DBS was associated with a higher rate of procedure- and hardware-related AEs (17% vs. 2%; P = 0.023) but a nonsignificantly lower rate of persistent treatment-related AEs affecting ADLs at 6 months (7% vs. 13%; P = 0.343). Overall, the rates of SAEs (23.3% vs. 19.2%; P = 0.779) and persistent deficits affecting ADLs at 6 months (10% vs. 13%; P = 0.82) were similar.</p><p><strong>Conclusions: </strong>Despite distinct safety profiles, both interventions produced a similar burden of AEs. Tremor control was equivalent on the more affected side, whereas contralateral and axial tremors improved only after bilateral DBS. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Piezo1 Expression in Urinary Exfoliated Cells as a Diagnostic Indicator for Multiple System Atrophy","authors":"Han Liu MD,&nbsp;Qingyong Zhu MD,&nbsp;Jiuqi Wang MM,&nbsp;Chi Qin MM,&nbsp;Renyi Feng MM,&nbsp;Heng Wu MD,&nbsp;Beisha Tang MD,&nbsp;Junfang Teng MM,&nbsp;Mingming Ma MD,&nbsp;Xuebing Ding MD,&nbsp;Xuejing Wang MD","doi":"10.1002/mds.30132","DOIUrl":"10.1002/mds.30132","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Multiple system atrophy (MSA) shares clinical features with idiopathic Parkinson’ s disease (iPD) and progressive supranuclear palsy (PSP), yet reliable biomarkers for differential diagnosis remain elusive.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study aimed to evaluate Piezo1/2 expression in urinary exfoliated cells as a potential biomarker for MSA differentiation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Piezo1/2 expression levels were quantified in urinary exfoliated cells from 76 MSA patients, 103 iPD patients, 59 PSP patients, and 126 healthy controls (HCs) across three independent cohorts using multiple analytical techniques.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the discovery cohort, Piezo1 expression was significantly reduced in MSA patients compared with HCs, iPD, and PSP (area under the curve: 0.9421, 0.8218, and 0.8036, respectively). These findings were validated in two independent cohorts, confirming consistently lower Piezo1 levels in MSA patients and their utility in distinguishing MSA from other groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Reduced Piezo1 levels in urinary exfoliated cells show strong potential as a non-invasive biomarker for diagnosing MSA. © 2025 International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 4","pages":"759-764"},"PeriodicalIF":7.4,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143497737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered Visuomotor Network Dynamics Associated with Freezing of Gait in Parkinson's Disease.","authors":"Dongning Su, Lanxin Ji, Yusha Cui, Lu Gan, Huizi Ma, Zhu Liu, Yunyun Duan, A Jon Stoessl, Junhong Zhou, Tao Wu, Yaou Liu, Tao Feng","doi":"10.1002/mds.30146","DOIUrl":"https://doi.org/10.1002/mds.30146","url":null,"abstract":"<p><strong>Background: </strong>Freezing of gait (FOG) is a common gait disorder that often accompanies Parkinson's disease (PD). The current understanding of brain functional organization in FOG was built on the assumption that the functional connectivity (FC) of networks is static, but FC changes dynamically over time. We aimed to characterize the dynamic functional connectivity (DFC) in patients with FOG based on high temporal-resolution functional MRI (fMRI).</p><p><strong>Methods: </strong>Eighty-seven PD patients, including 29 with FOG and 58 without FOG, and 32 healthy controls underwent resting-state fMRI. Spatial independent component analysis and a sliding-window approach were used to estimate DFC.</p><p><strong>Results: </strong>Four patterns of structured FC 'states' were identified: a frequent and sparsely connected network (State I), a less frequent but highly synchronized network (State IV), and two states with opposite connecting directions between the visual network and the sensorimotor network (positively connected in State II, negatively connected in State III). Compared with the non-FOG group, patients with FOG spent significantly less time in State II and more time in State III. The longer dwell time in State III was correlated with more severe FOG symptoms. The fractional window of State III tended to correlate to visual-spatial and executive dysfunction in FOG. Moreover, fewer transitions between brain states and lower variability in local efficiency were observed in FOG, suggesting a relatively 'rigid' brain.</p><p><strong>Conclusions: </strong>This study highlights how visuomotor network dynamics are related to the presence and severity of FOG in PD patients, which provides new insights into understanding the pathophysiological mechanisms that underly FOG. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143490317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}