Movement disorders : official journal of the Movement Disorder Society最新文献

{"title":"Lesion of the Subthalamic Nucleus Should Not be Labeled \"Subthalamotomy\"; A Plea for Anatomical Accuracy and Compliance with Historical Legacy.","authors":"Marwan Hariz, Jean Régis, Ludvic Zrinzo, Marie T Krueger, Harith Akram, Patric Blomstedt","doi":"10.1002/mds.30270","DOIUrl":"https://doi.org/10.1002/mds.30270","url":null,"abstract":"","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144370070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tremor Asymmetry and the Development of Bilateral Phase-Specific Deep Brain Stimulation for Postural Tremor.","authors":"Shenghong He, Alceste Deli, Timothy O West, Fernando R Plazas, Alek Pogosyan, Christoph Wiest, Laura Wehmeyer, Fahd Baig, Francesca Morgante, Pablo Andrade, Michael G Hart, James J FitzGerald, Veerle Visser-Vandewalle, Erlick A Pereira, Alexander L Green, Huiling Tan, Hayriye Cagnan","doi":"10.1002/mds.30275","DOIUrl":"10.1002/mds.30275","url":null,"abstract":"<p><strong>Background: </strong>Tremor phase-locked deep brain stimulation (DBS) has been shown to modulate symptom severity in postural tremor, including essential and dystonic tremor, with less energy than existing systems. Previous studies focused on unilateral stimulation; it remains unknown how tremor asymmetry interacts with stimulation in the context of bilateral phase-locked DBS.</p><p><strong>Methods: </strong>Archival limb acceleration from nine essential tremor patients was analyzed for asymmetries in tremor amplitude, frequency, and instability, and their relationship with continuous high-frequency DBS (cDBS). Bilateral phase-locked DBS was tested in one essential tremor and one dystonic tremor patient.</p><p><strong>Results: </strong>Postural tremor is asymmetric, with larger tremor power linked to smaller amplitude and frequency stability in one hand. These asymmetries were significantly reduced during cDBS, with greater effects on larger amplitude tremors. Bilateral phasic DBS effects were also asymmetric.</p><p><strong>Conclusions: </strong>This study enhances understanding of tremor asymmetry and its relationship with DBS, offering insights for patient-specific tremor treatments. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144370073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Substantia Nigra Iron Deposition in Lewy Body Disease: A Magnetic Resonance Imaging and Neuropathology Study.","authors":"Patricia Diaz-Galvan, Scott A Przybelski, Timothy G Lesnick, Melissa E Murray, Aivi Nguyen, Ross R Reichard, Dennis W Dickson, Daisuke Ono, Matthew L Senjem, Christopher G Schwarz, Jeffrey Gunter, Val Lowe, Leah K Forsberg, Julie A Fields, Rodolfo Savica, Jonathan Graff-Radford, Vijay K Ramanan, David Jones, Hugo Botha, Erik K St Louis, David Knopman, Gregory S Day, Neill Graff-Radford, Walter Kremers, Ronald C Petersen, Clifford R Jack, Tanis J Ferman, Bradley F Boeve, Kejal Kantarci","doi":"10.1002/mds.30265","DOIUrl":"10.1002/mds.30265","url":null,"abstract":"<p><strong>Objective: </strong>To compare iron deposition in the substantia nigra (SN) as measured with quantitative susceptibility mapping (QSM) on antemortem magnetic resonance imaging (MRI) between individuals with and without Lewy-related pathology at autopsy.</p><p><strong>Methods: </strong>We performed a retrospective cohort study including 54 participants who underwent autopsy and antemortem MRI with QSM. Cases were classified as Lewy body disease (LBD)-present (n = 13) if they had Lewy-related pathology and LBD-absent (n = 41) if they did not have Lewy-related pathology. QSM was calculated for the whole SN and the two subregions: pars compacta (SNc) and pars reticulata (SNr). Nonparametric Wilcoxon rank-sum tests were used to compare SN QSM values between LBD-present and LBD-absent cases. Area under the receiver operating characteristic (ROC) curve (AUC) analyses tested the accuracy of SN QSM values to distinguish the two groups. Associations of QSM values in the SN and its subregions with clinical features were tested with Spearman's correlations.</p><p><strong>Results: </strong>The LBD-present group had higher QSM values in the SNc (P = 0.008) than the LBD-absent group with no differences in SNr. QSM values of the SNc distinguished LBD-present and LBD-absent cases with good accuracy (AUC = 0.74) and correlated with the presence of parkinsonism and parkinsonism severity.</p><p><strong>Conclusions: </strong>This study provides neuropathological confirmation of the utility of SNc QSM as an in vivo biomarker of Lewy-related pathology. Imaging evidence of abnormal iron deposition in the SNc could potentially serve as a biomarker for inclusion in emerging research frameworks aimed at defining individuals with LBD based on their biological characteristics. Ultimately, this could facilitate more precise diagnoses and guide treatment strategies in LBD. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144370072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lesioning the Subthalamic Nucleus Using Magnetic Resonance Imaging-Guided Focused Ultrasound in Parkinson's Disease: Subthalamotomy Effectively Describes the Procedure.","authors":"Steffen Paschen, Elena Natera-Villalba, Rafael Rodríguez-Rojas, Marta Del Álamo, Jose A Pineda-Pardo, Ann-Kristin Helmers, Johannes Hensler, Günther Deuschl, Raúl Martínez-Fernández, Jose A Obeso","doi":"10.1002/mds.30271","DOIUrl":"https://doi.org/10.1002/mds.30271","url":null,"abstract":"","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144370071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Diagnosis of Progressive Supranuclear Palsy (PSP): A Clinicopathological Comparison of Patients with Confirmed PSP and Clinical Mimics.","authors":"Sarah Wrigley, Patrick W Cullinane, Jacy Bezerra Parmera, Vitor Maia Arca, Walter Sifontes Valladares, María Rivera-Sánchez, Toby Curless, Leckhna Paras Chajed, Maggie Burrows, Tamas Revesz, Huw R Morris, Zane Jaunmuktane, Thomas T Warner, Eduardo de Pablo-Fernández","doi":"10.1002/mds.30261","DOIUrl":"https://doi.org/10.1002/mds.30261","url":null,"abstract":"<p><strong>Background: </strong>Several neurodegenerative diseases can mimic the clinical presentation of progressive supranuclear palsy (PSP), limiting accurate diagnosis during life. This has important implications for clinical practice, biomarker studies, and therapeutic trial design.</p><p><strong>Objectives: </strong>To investigate whether the proportion of clinically diagnosed PSP patients with non-PSP pathology (termed 'mimics') has changed over the past 20 years since last examined in this cohort, and to identify clinical features that distinguish confirmed PSP from these mimics.</p><p><strong>Methods: </strong>We reviewed the clinical records of pathologically confirmed PSP patients donated to the Queen Square Brain Bank from 2010 to 2022, and PSP mimics donated from 1989 to 2022. Demographic information, clinical features, and progression milestones were recorded.</p><p><strong>Results: </strong>We included 236 pathologically confirmed PSP patients and 72 mimics. The main pathologies in PSP mimics were Lewy body disease (30.5%), corticobasal degeneration (23.6%), and multiple system atrophy (18.1%). A final clinical diagnosis of PSP between 2010 and 2022 had a positive predictive value of 86% for underlying PSP pathology and a false negative rate of 17%. Clinical features present in the first 3 years that favoured non-PSP pathology in this cohort include levodopa responsiveness, orthostatic hypotension, dysarthria, and a subcortical phenotype.</p><p><strong>Conclusions: </strong>Clinical diagnosis of PSP has improved since last examined in this cohort 20 years ago. Although certain clinical features may point to non-PSP pathologies, a proportion of patients are difficult to distinguish on clinical grounds alone. This should be reflected in clinical trial design, and further studies will be required to determine the utility of emerging biomarkers in this setting. © 2025 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144278122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sleep Stage Classification Using Subthalamic Nucleus Local Field Potentials Following Long-Term Neuromodulation in Parkinson's Disease.","authors":"Guokun Zhang, Lingxiao Guan, Yuan Gao, Lin Shi, Xuemei Yuan, Yuhuan Zhang, Guoping Yin, Anchao Yang, Fangang Meng, Jianguo Zhang, Huiling Yu, Luming Li","doi":"10.1002/mds.30264","DOIUrl":"https://doi.org/10.1002/mds.30264","url":null,"abstract":"","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144278123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology.","authors":"Christian Rummey, Gilbert Thomas-Black, Hector Garcia-Moreno, David R Lynch, Rosella Abeti, Huseyin Arisoy, Amanda Heslegrave, Henrik Zetterberg, Paola Giunti","doi":"10.1002/mds.30250","DOIUrl":"https://doi.org/10.1002/mds.30250","url":null,"abstract":"<p><strong>Background: </strong>Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen.</p><p><strong>Objective: </strong>This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ubiquitin C-terminal hydrolase L1(UCH-L1) in FRDA comparing two large independent cohorts of patients with healthy controls.</p><p><strong>Methods: </strong>Plasma samples of patients from two large natural history studies (n = 187) and a similar sized cohort of healthy control subjects (n = 127) were assessed using single-molecule array measurements. Age-adjusted biomarker levels were related to patients' genetic profile, clinical progression, and comorbidities, and compared with controls. Sensitivity and specificity were assessed using receiver operating characteristic analyses.</p><p><strong>Results: </strong>NfL levels were significantly elevated in patients with FRDA younger than 40 years, showing a distinct age-dependent trajectory: levels declined with age in FRDA but increased in controls. Longitudinal data indicated annual NfL reductions between 8% (children) and 13% (young adults < 35 years). This result is discussed in the context of other neurodegenerative conditions, with FRDA being a rare case where NfL levels decrease over time before the age of 40 years. In contrast, tau was consistently elevated across all age groups in FRDA.</p><p><strong>Conclusions: </strong>NfL is a sensitive biomarker in early FRDA but decreases with age, converging with control values after 35-40 years. This age-dependent pattern must be considered when interpreting the effect of interventions in clinical trials. Especially in younger (age < 10 years) or presymptomatic patients and control subjects, additional longitudinal sampling is warranted. Elevated tau levels suggest involvement in underlying disease pathophysiology. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.","authors":"Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G Sheridan, James A Poulter, Michelle L Thompson, Yusra Algoos, Salma Al-Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S Birk","doi":"10.1002/mds.30249","DOIUrl":"https://doi.org/10.1002/mds.30249","url":null,"abstract":"<p><strong>Background: </strong>Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss-of-function variants in PDE10A are known to cause hyperkinetic movement disorders, the role of PDE1B in human disease has not been characterized.</p><p><strong>Objectives: </strong>We aimed to define the phenotypic and molecular characteristics of a novel autosomal recessive disorder caused by biallelic PDE1B variants.</p><p><strong>Methods: </strong>Clinical phenotyping by senior geneticists and neurologists, followed by whole exome sequencing, segregation analysis (Sanger sequencing), and molecular studies, including mini-gene splicing assays and protein studies in transfected HEK293 cells.</p><p><strong>Results: </strong>Seven affected individuals from five unrelated pedigrees presented with an apparently autosomal recessive disorder characterized by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with developmental delay and intellectual disability. Biallelic PDE1B variants were identified in all affected individuals: three truncating (p.Q45*, p.Q86*, p.S298Afs*6) and three splicing variants (c.594 + 2 T>G, c.735 + 5G>A, c.837-1G>C). Functional studies confirmed that the truncating variants caused loss of the catalytic domain, resulting in truncated or absent functional protein. Splicing variants led to exon skipping, frameshifts, and catalytic domain disruption. These findings establish a causative link between biallelic PDE1B variants and the observed clinical phenotype.</p><p><strong>Conclusions: </strong>Biallelic loss-of-function variants in PDE1B underlie a novel early-onset movement disorder resembling the phenotype associated with PDE10A deficiency. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144259915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is Hypomethylation of the α-Synuclein Gene in Parkinson's Disease Patients Related to Chronic Levodopa Intake?","authors":"Thomas Müller, Wilfried Kuhn","doi":"10.1002/mds.30263","DOIUrl":"https://doi.org/10.1002/mds.30263","url":null,"abstract":"","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144251957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Networks Route Neurodegeneration Patterns in Patients with Progressive Supranuclear Palsy.","authors":"Carla Palleis, Andrea Quattrone, Amir Dehsarvi, Sebastian N Roemer-Cassiano, Alexander M Bernhardt, Hans-Jürgen Huppertz, Maura Malpetti, Adam L Boxer, Johannes Gnörich, Lukas Frontzkowski, Johannes Levin, Matthias Brendel, Günter U Höglinger, Nicolai Franzmeier","doi":"10.1002/mds.30257","DOIUrl":"https://doi.org/10.1002/mds.30257","url":null,"abstract":"<p><strong>Background: </strong>Progressive supranuclear palsy (PSP) is a neurodegenerative disease driven by 4-repeat τ pathology, which is thought to propagate across interconnected neurons.</p><p><strong>Objectives: </strong>We hypothesized that interconnected brain regions exhibit correlated atrophy, and that atrophy propagates network-like from fast-declining epicenters to connected regions in PSP.</p><p><strong>Methods: </strong>We combined resting-state functional magnetic resonance imaging (fMRI) connectomics with two independent 12-month longitudinal structural magnetic resonance imaging (MRI) datasets of PSP-Richardson syndrome (PSP-RS) patients (n_discovery/n_validation = 114/90). MRI-based gray matter volumes were assessed for 246 regions of the Brainnetome atlas and converted to w-scores indicating local atrophy (ie, volumes adjusted for age, sex, and intracranial volume based on regression models determined in a sample of 377 healthy amyloid- and τ-negative controls from the Alzheimer's Disease Neuroimaging Initiative [ADNI]). Annual volume changes were determined for each Brainnetome region of interest using longitudinal structural MRI. Resting-state fMRI from 69 ADNI healthy controls was used to determine a connectivity template.</p><p><strong>Results: </strong>We observed pronounced atrophy and volume decline in the frontal lobe and subcortical regions bilaterally. Correlated atrophy and volume changes were found among interconnected brain regions, with regions with severe atrophy or rapid decline being strongly connected to similarly affected areas, whereas minimally affected regions were connected to less affected areas. Connectivity patterns of atrophy epicenters predicted patient level atrophy and volume decline.</p><p><strong>Conclusions: </strong>Our findings show that key subcortical and frontal brain regions undergo atrophy in PSP-RS and that gray matter atrophy expands across interconnected brain regions, supporting the view that neurodegeneration patterns may follow the trans-neuronal τ propagation pattern in PSP-RS. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":520713,"journal":{"name":"Movement disorders : official journal of the Movement Disorder Society","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144251956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}