Movement Disorders最新文献

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Is Parkinson Disease Better Defined Solely by Biology or as a Clinical–Biological Entity? Lessons to be Learned from Alzheimer's Disease on Biological Definition and Staging
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-03-18 DOI: 10.1002/mds.30173
Tiago A. Mestre MD, PhD, Cristina Sampaio MD, PhD
{"title":"Is Parkinson Disease Better Defined Solely by Biology or as a Clinical–Biological Entity? Lessons to be Learned from Alzheimer's Disease on Biological Definition and Staging","authors":"Tiago A. Mestre MD, PhD, Cristina Sampaio MD, PhD","doi":"10.1002/mds.30173","DOIUrl":"10.1002/mds.30173","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 4","pages":"625-626"},"PeriodicalIF":7.4,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646657","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}
引用次数: 0
Antidopaminergic Medications and Clinical Changes in Measures of Huntington's Disease: A Causal Analysis
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-03-18 DOI: 10.1002/mds.30164
Michal Geva, Y. Paul Goldberg, Henk Schuring, Andrew M. Tan, Jeffrey D. Long, Michael R. Hayden
{"title":"Antidopaminergic Medications and Clinical Changes in Measures of Huntington's Disease: A Causal Analysis","authors":"Michal Geva, Y. Paul Goldberg, Henk Schuring, Andrew M. Tan, Jeffrey D. Long, Michael R. Hayden","doi":"10.1002/mds.30164","DOIUrl":"https://doi.org/10.1002/mds.30164","url":null,"abstract":"BackgroundAntidopaminergic medications (ADM) are often used for symptom management of Huntington's disease (HD). Evidence from past research suggests that ADMs are associated with worse clinical outcomes in HD, but their impact on various domains remains underexplored.ObjectiveWe used causal inference analysis to understand the impact of ADM use on measures of clinical progression in HD across multiple domains over 2 years.MethodsWe used the Enroll‐HD database with a new‐user design, which compared a cohort that initiated ADM use after the first visit with an unexposed cohort that remained <jats:italic>off</jats:italic> ADMs. To control for 27 covariates, we used a doubly robust <jats:italic>targeted maximum likelihood estimation</jats:italic> and conducted two analyses. First, we analyzed ADM treatment 2 years post‐baseline and separately for 12 outcome measures. Second, we examined the association of ADM dose with measures of clinical outcomes.ResultsThe ADM‐exposed group exhibited faster change in measures of clinical outcome compared with the <jats:italic>off</jats:italic>‐ADM group, which was statistically reliable in cognitive and functional outcome measures, and the composite Unified Huntington's Disease Rating Scale (cUHDRS). Motor domain analyses showed faster change in bradykinesia in the ADM‐exposed group versus <jats:italic>off</jats:italic>‐ADM but no difference in chorea or total motor score (TMS). Higher ADM doses also showed greater differences compared to the <jats:italic>off</jats:italic>‐ADM group.ConclusionsADM use was associated with more rapid change in clinical measures, particularly in cognitive and functional domains. However, assumptions required to establish causation between ADM use and disease progression may not have been fully met, and further research is warranted. © 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":"9 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143653427","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}
引用次数: 0
Long-Term Stability of Spatial Distribution and Peak Dynamics of Subthalamic Beta Power in Parkinson's Disease Patients.
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-03-18 DOI: 10.1002/mds.30169
Jennifer K Behnke, Robert L Peach, Jeroen G V Habets, Johannes L Busch, Jonathan Kaplan, Jan Roediger, Varvara Mathiopoulou, Lucia K Feldmann, Moritz Gerster, Juliette Vivien, Gerd-Helge Schneider, Katharina Faust, Patricia Krause, Andrea A Kühn
{"title":"Long-Term Stability of Spatial Distribution and Peak Dynamics of Subthalamic Beta Power in Parkinson's Disease Patients.","authors":"Jennifer K Behnke, Robert L Peach, Jeroen G V Habets, Johannes L Busch, Jonathan Kaplan, Jan Roediger, Varvara Mathiopoulou, Lucia K Feldmann, Moritz Gerster, Juliette Vivien, Gerd-Helge Schneider, Katharina Faust, Patricia Krause, Andrea A Kühn","doi":"10.1002/mds.30169","DOIUrl":"https://doi.org/10.1002/mds.30169","url":null,"abstract":"<p><strong>Background: </strong>Subthalamic beta oscillations are a biomarker for bradykinesia and rigidity in Parkinson's disease (PD), incorporated as a feedback signal in adaptive deep brain stimulation with potential for guiding electrode contact selection. Understanding their longitudinal stability is essential for successful clinical implementation.</p><p><strong>Objectives: </strong>We aimed to analyze the long-term dynamics of beta peak parameters and beta power distribution along electrodes.</p><p><strong>Methods: </strong>We recorded local field potentials from 12 channels per hemisphere of 33 PD patients at rest, in a therapy-off state at two to four sessions (0, 3, 12, 18-44 months) post-surgery. We analyzed bipolar beta power (13-35 Hz) and estimated monopolar beta power in subgroups with consistent recordings.</p><p><strong>Results: </strong>During the initial 3 months, beta peak power increased (P < 0.0001). While detection of high-beta peaks was more consistent, low- and high-beta peak frequencies shifted substantially in some hemispheres during all periods. Spatial distribution of beta power correlated over time. Maximal beta power across segmented contact levels and directions was significantly stable compared with chance and increased in stability over time. Active contacts for therapeutic stimulation showed consistently higher normalized beta power than inactive contacts (P < 0.0001).</p><p><strong>Conclusions: </strong>Our findings indicate that beta power is a stable chronic biomarker usable for beta-guided programming. For adaptive stimulation, high-beta peaks might be more reliable over time. Greater stability of beta power, center frequency, and spatial distribution beyond an initial stabilization period suggests that the microlesional effect significantly impacts neuronal oscillations, which should be considered in routine clinical practice when using beta activity for automated programming algorithms. © 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":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646659","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}
引用次数: 0
Treatment for Dyskinesia in Parkinson's Disease: A Network Meta-analysis of Randomized Controlled Trials.
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-03-18 DOI: 10.1002/mds.30179
Rui Yan, Xiaoqing Zheng, Yixuan Yin, Junjiao Zhang, Yusha Cui, Dongning Su, Zhirong Wan, Tao Feng
{"title":"Treatment for Dyskinesia in Parkinson's Disease: A Network Meta-analysis of Randomized Controlled Trials.","authors":"Rui Yan, Xiaoqing Zheng, Yixuan Yin, Junjiao Zhang, Yusha Cui, Dongning Su, Zhirong Wan, Tao Feng","doi":"10.1002/mds.30179","DOIUrl":"https://doi.org/10.1002/mds.30179","url":null,"abstract":"<p><strong>Background: </strong>Dyskinesia is a motor complication of Parkinson's disease (PD) posing therapeutic challenges. The optimal therapy for dyskinesia in PD has not been identified due to the lack of comprehensive evaluation of treatments.</p><p><strong>Objective: </strong>The aim was to compare the efficacy and safety of interventions for alleviating levodopa-induced dyskinesia in PD.</p><p><strong>Methods: </strong>We conducted a Bayesian network meta-analysis (NMA) by systematically searching PubMed, Web of Science, Embase, Cochrane Library, ClinicalTrials.gov, and EudraCT databases up to April 1, 2024. The primary efficacy outcome was the change in scores on dyskinesia rating scales from baseline.</p><p><strong>Results: </strong>The study included 85 randomized controlled trials (RCT) involving 13,826 PD patients, comprising 39 interventions. Nine treatments were significantly more effective in reducing scores on dyskinesia rating scales than control (placebo, sham surgery, sham repetitive transcranial magnetic stimulation, or best medical treatment). Globus pallidus interna deep brain stimulation (GPi-DBS) had the highest probability to be the most effective (standardized mean difference, 95% credible interval: -1.27, -1.65 to -0.88; surface under the cumulative ranking curve [SUCRA]: 97.4%), followed by levodopa-carbidopa intestinal gel infusion (SUCRA = 89.7%), subthalamic nucleus (STN)-DBS (SUCRA = 89%), immediate-release (IR) amantadine (SUCRA = 86.5%), pallidotomy (SUCRA = 84.9%), ADS-5102 (SUCRA = 82.9%), clozapine (SUCRA = 77.2%), OS320 (SUCRA = 64.8%), and AFQ056 (SUCRA = 54.5%). GPi-DBS was superior to STN-DBS, and pallidotomy ranked higher than subthalamotomy. ADS-5102 and OS320 had higher adverse event (AE) rates compared to control, whereas AFQ056 and ADS-5102 were linked to more serious AEs.</p><p><strong>Conclusions: </strong>This RCT-based NMA identifies and ranks nine efficacious interventions for dyskinesia in PD. GPi-DBS may be the most effective therapy for treating dyskinesia, with IR amantadine ranking highest among oral medications. Novel anti-dyskinetic medications are associated with less-favorable tolerance profiles. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646661","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}
引用次数: 0
NLX‐112 Randomized Phase 2A Trial: Safety, Tolerability, Anti‐Dyskinetic, and Anti‐Parkinsonian Efficacy
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-03-17 DOI: 10.1002/mds.30175
Per Svenningsson, Per Odin, Filip Bergquist, Karin Wirdefeldt, Dag Nyholm, Mattias Andréasson, Ioanna Markaki, Anders C. Johansson, Måns Jergil, Christopher Jankosky, Mark A. Varney, Fabienne Herbrecht, Steven A. Johnson, Adrian Newman‐Tancredi
{"title":"NLX‐112 Randomized Phase 2A Trial: Safety, Tolerability, Anti‐Dyskinetic, and Anti‐Parkinsonian Efficacy","authors":"Per Svenningsson, Per Odin, Filip Bergquist, Karin Wirdefeldt, Dag Nyholm, Mattias Andréasson, Ioanna Markaki, Anders C. Johansson, Måns Jergil, Christopher Jankosky, Mark A. Varney, Fabienne Herbrecht, Steven A. Johnson, Adrian Newman‐Tancredi","doi":"10.1002/mds.30175","DOIUrl":"https://doi.org/10.1002/mds.30175","url":null,"abstract":"BackgroundLevodopa‐induced dyskinesia (LID) in Parkinson's disease (PD) is associated with ‘false neurotransmitter’ release of dopamine from serotonin (5‐HT) neurons. NLX‐112 is a first‐in‐class, highly selective 5‐HT<jats:sub>1A</jats:sub> receptor agonist which counteracts LIDs in experimental PD models.ObjectivesThe primary objective was to evaluate the safety and tolerability of NLX‐112 compared with placebo in people with PD. The secondary objective was to assess the preliminary efficacy of NLX‐112 in reducing LID and its effects on PD symptoms.MethodsParticipants received NLX‐112 or placebo (2:1 ratio) alongside stable Parkinson's medications, with 22 participants completing the study. Dosing was up‐titrated over 28 days to 2 mg/day (1 mg twice daily), stabilized for 14 days (to day 42), and down‐titrated for 14 days. Efficacy was measured using the Unified Dyskinesia Rating Scale (UDysRS), Unified Parkinson's Disease Rating Scale (UPDRS), and Clinical Global Impression of Change (CGI‐C) following a levodopa challenge (150% of usual dose).ResultsAdverse events (AEs) were mainly central nervous system (CNS)‐related and mostly occurred during up‐titration, with no serious AEs in the NLX‐112 group. There were no treatment‐induced clinically significant changes in vital signs, electrocardiogram, or laboratory parameters. NLX‐112 reduced LID from baseline levels: at day 42, UDysRS total score decreased by 6.3 points, whereas placebo group changes were not significant (−2.4). NLX‐112 also reduced parkinsonism from baseline values: UPDRS Part 3 scores decreased by 3.7 points, whereas placebo group changes were non‐significant (+0.1). In CGI‐C assessment, the NLX‐112 group showed greater improvement than the placebo group (53% vs. 29%).ConclusionThese results support further clinical investigation of NLX‐112 for treatment of PD LID. © 2025 Neurolixis SAS. <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":"90 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143641066","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}
引用次数: 0
Deep Learning–Based Artificial Intelligence Algorithm to Classify Tremors from Hand‐Drawn Spirals
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-03-17 DOI: 10.1002/mds.30176
Reghu Anandapadmanabhan, Aayushi Vishnoi, Geetha Raman, Jeena Thachan, Beulah Amulyavathi Gangaraju, Divya Radhakrishnan, Venugopalan Yamuna Vishnu, Nitish Kamble, Vikram Holla, Praveen James, Achal Srivastava, Deepak Joshi, Ashish Mahabal, Syam Krishnan, Pramod Pal, Roopa Rajan
{"title":"Deep Learning–Based Artificial Intelligence Algorithm to Classify Tremors from Hand‐Drawn Spirals","authors":"Reghu Anandapadmanabhan, Aayushi Vishnoi, Geetha Raman, Jeena Thachan, Beulah Amulyavathi Gangaraju, Divya Radhakrishnan, Venugopalan Yamuna Vishnu, Nitish Kamble, Vikram Holla, Praveen James, Achal Srivastava, Deepak Joshi, Ashish Mahabal, Syam Krishnan, Pramod Pal, Roopa Rajan","doi":"10.1002/mds.30176","DOIUrl":"https://doi.org/10.1002/mds.30176","url":null,"abstract":"BackgroundNo objective biomarkers exist for diagnosing and classifying tremor syndromes.ObjectiveThe aim was to develop and validate a deep learning (DL) algorithm for classifying tremors from hand‐drawn pen‐on‐paper spirals.MethodsWe recruited participants with dystonic tremor (DT), essential tremor (ET), essential tremor plus (ETP), Parkinson's disease (PD), cerebellar ataxia (AT), and healthy volunteers (HV). Participants drew free‐hand spirals on paper, which were used to train a DL algorithm based on transfer learning using InceptionResNetV2 and Keras sequential model. We validated the model externally in two independent tremor cohorts, evaluating accuracy and F1 scores, and compared its performance to expert raters.ResultsWe recruited 521 participants and obtained 2078 spirals (365 DT, 215 ET, 208 ETP, 212 PD, 78 AT, and 525 HV). Mean age of the participants was 46.1 ± 12.4 years, duration of illness was 8.9 ± 8.3 years, and the mean Fahn–Tolosa–Marin Tremor Rating Scale score in patients was 32.4 ± 14.7. The DL classifier demonstrated an overall accuracy of 81% [95% confidence interval, CI: 0.77–0.85] in distinguishing among tremor syndromes. To mitigate the potential risks of data leakage and digital fingerprinting, the algorithm was redeveloped and reanalyzed, yielding an adjusted accuracy of 70% [95% CI: 0.66–0.74]. External validation on an independent cohort of 1535 spiral drawings resulted in an accuracy of 61% [95% CI: 0.59–0.63], with the adjusted algorithm achieving 59% [95% CI: 0.58–0.60], outperforming human raters (accuracy: 46%).ConclusionSupervised DL algorithms can effectively detect tremor syndromes from hand‐drawn spirals, offering unbiased, feature‐independent classification with higher accuracy than human raters. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"1 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143641065","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}
引用次数: 0
Obituary for C. Warren Olanow
IF 7.4 1区 医学
Movement Disorders Pub Date : 2025-03-17 DOI: 10.1002/mds.30137
José A. Obeso MD, PhD, Anthony H.V. Schapira MD, DSc, FRCP, Fabrizio Stocchi MD, PhD
{"title":"Obituary for C. Warren Olanow","authors":"José A. Obeso MD, PhD,&nbsp;Anthony H.V. Schapira MD, DSc, FRCP,&nbsp;Fabrizio Stocchi MD, PhD","doi":"10.1002/mds.30137","DOIUrl":"10.1002/mds.30137","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"398-399"},"PeriodicalIF":7.4,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143641076","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}
引用次数: 0
Patients with Allan‐Herndon‐Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-03-15 DOI: 10.1002/mds.30152
Nina‐Maria Wilpert, Angela L. Hewitt, Roser Pons, Marie‐Thérèse Henke, Andrea Dell'Orco, Martin Bauer, Christiane Grolik, Stephan Menz, Monika Wahle, Annika Zink, Alessandro Prigione, Christina Reinauer, Catharina Lange, Christian Furth, Knut Brockmann, Sabine Jung‐Klawitter, Stine Christ, Angela M. Kaindl, Anna Tietze, Heiko Krude, Thomas Opladen, Markus Schuelke
{"title":"Patients with Allan‐Herndon‐Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment","authors":"Nina‐Maria Wilpert, Angela L. Hewitt, Roser Pons, Marie‐Thérèse Henke, Andrea Dell'Orco, Martin Bauer, Christiane Grolik, Stephan Menz, Monika Wahle, Annika Zink, Alessandro Prigione, Christina Reinauer, Catharina Lange, Christian Furth, Knut Brockmann, Sabine Jung‐Klawitter, Stine Christ, Angela M. Kaindl, Anna Tietze, Heiko Krude, Thomas Opladen, Markus Schuelke","doi":"10.1002/mds.30152","DOIUrl":"https://doi.org/10.1002/mds.30152","url":null,"abstract":"BackgroundPatients with mutations in the monocarboxylate transporter 8 (MCT8, <jats:italic>SLC16A2</jats:italic>) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve patient‐oriented therapeutic goals.ObjectivesOur aim was to define the type of movement disorder in AHDS in an observational cohort study and to investigate the causative role of the dopaminergic system.MethodsWe present longitudinal clinical data from the DEEPTYPE registry of 11 patients with video documentation, standardized phenotyping, cerebrospinal fluid (CSF) analysis, neuroimaging data, and the treatment response to levodopa/carbidopa supplementation.ResultsChildren presented with signs of childhood parkinsonism, including hypokinesia, hypomimia, inability to sit or stand, rigidity, dystonia, and autonomic dysfunction. CSF homovanillic acid concentrations were decreased (n = 12), suggesting an isolated dopamine pathway impairment. Seven out of 8 patients responded favorably to <jats:sc>l</jats:sc>‐dopa/carbidopa supplementation and we did not observe any adverse drug reactions.ConclusionsAHDS is associated with childhood parkinsonism, which is linked with biochemical abnormalities of dopamine metabolism. It can be treated with <jats:sc>l</jats:sc>‐dopa/carbidopa supplementation. However, further research is needed to elucidate the exact effect of MCT8 deficiency on dopamine metabolism. © 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":"15 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143631473","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}
引用次数: 0
Brain Imaging Phenotypes Associated with Polygenic Risk for Essential Tremor
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-03-15 DOI: 10.1002/mds.30167
Miranda Medeiros, Alexandre Pastor‐Bernier, Houman Azizi, Zoe Schmilovich, Charles‐Etienne Castonguay, Peter Savadjiev, Jean‐Baptiste Poline, Etienne St‐Onge, Fan Zhang, Lauren J. O'Donnell, Ofer Pasternak, Yashar Zeighami, Patrick A. Dion, Alain Dagher, Guy A. Rouleau
{"title":"Brain Imaging Phenotypes Associated with Polygenic Risk for Essential Tremor","authors":"Miranda Medeiros, Alexandre Pastor‐Bernier, Houman Azizi, Zoe Schmilovich, Charles‐Etienne Castonguay, Peter Savadjiev, Jean‐Baptiste Poline, Etienne St‐Onge, Fan Zhang, Lauren J. O'Donnell, Ofer Pasternak, Yashar Zeighami, Patrick A. Dion, Alain Dagher, Guy A. Rouleau","doi":"10.1002/mds.30167","DOIUrl":"https://doi.org/10.1002/mds.30167","url":null,"abstract":"Essential tremor (ET) is a common movement disorder with a strong genetic basis. Magnetic resonance imaging (MRI), particularly diffusion‐weighted MRI (dMRI) and T1 MRI, have been used to identify brain abnormalities of ET patients. However, the mechanisms by which genetic risk affects the brain to render individuals vulnerable to ET remain unknown. We aimed to understand how ET manifests by identifying presymptomatic brain vulnerabilities driven by ET genetic risk. We probed the vulnerability of healthy people towards ET by investigating the association of morphometry, and white and grey matter dMRI with ET in polygenic risk scores (PRS) in roughly 30,000 individuals from the UK Biobank (UKB). Our results indicate significant effects of ET‐PRS with mean diffusivity, fractional anisotropy, free water, radial diffusivity, and axial diffusivity in white matter tracts implicated in movement control. We found significant associations between ET‐PRS and grey matter tissue microstructure, including the red nucleus, caudate, putamen, and motor thalamus. ET‐PRS was associated with reduced grey matter volumes in several cortical and subcortical areas including the cerebellum. Identified anomalies included networks connected to surgical sites effective in ET treatment. Finally, in a secondary analysis, low PRS individuals compared with a small number of patients with ET (<jats:italic>N</jats:italic> = 49) in the UKB revealed many structural differences. Brain structural vulnerabilities in healthy people at risk of developing ET correspond to areas known to be involved in the pathology of ET. High genetic risk of ET seems to disrupt ET brain networks even in the absence of overt symptoms of ET. © 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":"33 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143631475","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}
引用次数: 0
Finely Tuned γ Tracks Medication Cycles in Parkinson's Disease: An Ambulatory Brain‐Sense Study
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-03-13 DOI: 10.1002/mds.30160
Aaron Colombo, Elena Bernasconi, Laura Alva, Mario Sousa, Ines Debove, Andreas Nowacki, Camille Serquet, Katrin Petermann, T.A. Khoa Nguyen, Andreia D. Magalhães, Lenard Lachenmayer, Julia Waskönig, Tobias Nef, Michael Schuepbach, Claudio Pollo, Paul Krack, Alberto Averna, Gerd Tinkhauser
{"title":"Finely Tuned γ Tracks Medication Cycles in Parkinson's Disease: An Ambulatory Brain‐Sense Study","authors":"Aaron Colombo, Elena Bernasconi, Laura Alva, Mario Sousa, Ines Debove, Andreas Nowacki, Camille Serquet, Katrin Petermann, T.A. Khoa Nguyen, Andreia D. Magalhães, Lenard Lachenmayer, Julia Waskönig, Tobias Nef, Michael Schuepbach, Claudio Pollo, Paul Krack, Alberto Averna, Gerd Tinkhauser","doi":"10.1002/mds.30160","DOIUrl":"https://doi.org/10.1002/mds.30160","url":null,"abstract":"BackgroundNovel commercial brain‐sense neurostimulators enable us to contextualize brain activity with symptom and medication states in real‐life ambulatory settings in Parkinson's disease (PD). Although various candidate biomarkers have been proposed for adaptive deep brain stimulation (DBS), a comprehensive comparison of their ambulatory profiles is lacking.ObjectivesTo systematically compare the ambulatory neurophysiological dynamics and clinical properties of three candidate biomarkers—low‐frequency, beta (β), and finely tuned γ (FTG) activity.MethodsWe investigated 14 PD patients implanted with the Medtronic Percept PC, who underwent up to two 4‐week ambulatory multimodal recording periods on their regular medication and stimulation. Subthalamic nucleus local field potentials (LFPs) of low‐frequency, β, and FTG activity were recorded. Additionally, objective motor symptom states, physical activity and heart rate using wearables, as well as medication‐intake times, sleep‐awake times, and subjective symptom states using diaries were co‐registered. LFP dynamics were also compared to high‐resolution in‐hospital recordings under <jats:italic>off</jats:italic>/<jats:italic>on</jats:italic> dopaminergic medication and stimulation conditions.ResultsFTG reliably indexed <jats:italic>off</jats:italic> to <jats:italic>on</jats:italic> medication states in the ambulatory setting at the group and individual levels, and these spectral dynamics could be anticipated by high‐resolution in‐hospital recordings. Both FTG and low‐frequency correlated with wearable‐based dyskinesia scores, whereas diary‐based dyskinesia events were only linked to FTG. Importantly, FTG indicated <jats:italic>on</jats:italic>‐medication states regardless of the presence of dyskinesia and despite potential motion and heart rate artifacts. The 24‐hour profile revealed large circadian power shifts that may overdrive medication‐intake dynamics.ConclusionDespite the limitations of low‐temporal resolution recordings, this work provides valuable insights into the real‐life dynamics of biomarkers. Specifically, it highlights the utility of FTG as a primary and reliable indicator of medication states for adaptive DBS. © 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":"213 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143618414","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}
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