Movement Disorders最新文献

{"title":"Dysphagia in Multiple System Atrophy Does Not Correlate with Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein.","authors":"Martin Klietz,Katharina Pannewitz-Makaj,Franziska Baacke,Florian Wegner,Matthias Höllerhage,Lea Krey,Lan Ye,Christoph Schrader,Günter U Höglinger,Tobias Warnecke","doi":"10.1002/mds.70092","DOIUrl":"https://doi.org/10.1002/mds.70092","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"75 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145261213","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":"The Role of Basal Ganglia Theta Oscillations in Predicting the Onset of Levodopa‐Induced Dyskinesias","authors":"Miguel Wilken, Luna Granda, Ivonne Cruz, Malco Rossi, Daniel Cerquetti, Marcelo Merello","doi":"10.1002/mds.70065","DOIUrl":"https://doi.org/10.1002/mds.70065","url":null,"abstract":"BackgroundLevodopa‐induced dyskinesias (LIDs) are an important burden for patients with Parkinson's disease (PD), yet their mechanisms remain incompletely understood.ObjectiveThe objective of this study was to investigate the temporal and spatial relationship between local field potential (LFP) changes and dyskinesia development in PD.MethodsWe recorded bilateral subthalamic LFPs, electromyography, and accelerometry in patients with PD with peak‐dose LIDs undergoing deep brain stimulation (DBS) surgery. Apomorphine was administered to induce dyskinesias, and recordings continued for 200 seconds postonset. Spectral power changes were analyzed over time and mapped to the DBS “sweet spot.” A machine‐learning algorithm detected dyskinetic movements.ResultsIn 9 of 36 patients, dyskinesias were preceded by a bilateral beta power decrease (<jats:italic>P</jats:italic> &lt; 0.001) and contralateral theta increase (<jats:italic>P</jats:italic> = 0.02), followed by gamma elevation (<jats:italic>P</jats:italic> = 0.03). These changes peaked in the DBS sweet spot.ConclusionsOur results provide insights into the sequential nature of beta, theta, and gamma oscillatory changes. Theta activity may serve as a key biomarker for adaptive DBS. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"23 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260618","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":"Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.","authors":"Zhen Hu,Qin-Qin Yan,Jing-Jin Wan,Yu Fan,Jun Liu","doi":"10.1002/mds.70081","DOIUrl":"https://doi.org/10.1002/mds.70081","url":null,"abstract":"BACKGROUNDNucleotide repeat expansions are a potential factor in Parkinson's disease (PD) risk, but previous studies were inconsistent. We investigated 14 non-coding repeat expansion genes (C9ORF72, FMR1, AFF2, ATXN8OS, ATXN10, CNBP, CSTB, DMPK, FXN, NOP56, NOTCH2NLC, PPP2R2B, RFC1, and TCF4) in a large cohort.METHODSWe used whole-genome sequencing (WGS) data from the United Kingdom (UK) Biobank, including 3588 PD cases and 388,532 controls. Repeat sizes were determined using ExpansionHunter. We also conducted a sensitivity analysis.RESULTSAfter Bonferroni correction, no genes showed a statistically significant association with PD risk. However, nominal associations were found for pathogenic repeats in C9ORF72 (odds ratio [OR] = 1.780, P = 0.037) and for gray zone repeats in FMR1 (OR = 0.695, P = 0.016), which suggests a potential protective effect.CONCLUSIONOur large-scale study provides hypothesis-generating evidence. We report a nominal association linking pathogenic C9ORF72 repeats to increased PD risk and, importantly, a novel observation that FMR1 repeats may be protective. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"51 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145261214","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":"Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.","authors":"Stella Andrea Lischewski,Imis Dogan,Paola Giunti,Michael H Parkinson,Caterina Mariotti,Alexandra Durr,Claire Ewenczyk,Sylvia Boesch,Wolfgang Nachbauer,Thomas Klopstock,Claudia Stendel,Francisco Javier Rodríguez de Rivera Garrido,Ludger Schöls,Zofia Fleszar,Thomas Klockgether,Marcus Grobe-Einsler,Ilaria Giordano,Myriam Rai,Massimo Pandolfo,Heike Jacobi,Ralf-Dieter Hilgers,Jörg B Schulz,Kathrin Reetz, ","doi":"10.1002/mds.70084","DOIUrl":"https://doi.org/10.1002/mds.70084","url":null,"abstract":"BACKGROUNDFriedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non-ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non-Ataxia Signs (INAS) is a symptom list transformable to a 16-item count.OBJECTIVETo evaluate the responsiveness of a modified INAS in this population.METHODSParticipants were drawn from the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). The modified INAS count (presence/absence, 0-16 scale) and modified INAS sum (severity-weighted, 0-84 scale) were evaluated using linear mixed-models and standardized response means (SRMs). Items rare (<5%) and uncharacteristic in Friedreich's ataxia were excluded (chorea, myoclonus, fasciculations, resting tremor, rigidity) RESULTS: A total of 1129 participants (mean age, 32.3 years) were assessed for up to 12 years. The mean modified INAS count was 4.6 (±2.2) and modified INAS sum 15.1 (± 9.9). Both correlated strongly with existing outcome measures. Longitudinally, the modified INAS count increased by 0.13 points/year (95% CI 0.12, 0.14; P < 0.001) and modified INAS sum by 0.68 points/year (95% CI 0.64, 0.72; P < 0.001). The modified INAS sum demonstrated greater responsiveness, with SRMs of 0.26, 0.38, 0.53, and 0.80 at 1, 2, 3, and 5 years, respectively, compared with 0.16, 0.27, 0.31, and 0.46 for the modified INAS count. In non-ambulatory patients and children, responsiveness of the modified INAS sum was higher (SRM 0.82 and 1.7 at 5 years, respectively).CONCLUSIONSThe modified INAS sum showed good responsiveness over 5 years but not over 1-3 years. It may supplement existing outcome measures, contributing to holistic assessment of this multisystem disease, especially in non-ambulatory patients, in whom ataxia-focused measures may show ceiling effects, and children, who typically progress faster. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"37 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145254494","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":"RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications","authors":"Edoardo Monfrini MD, PhD,&nbsp;Paola Rinchetti PhD,&nbsp;Mathieu Anheim MD, PhD,&nbsp;Anna Klingseisen PhD,&nbsp;Ouhaid Lagha-Boukbiza MD,&nbsp;Zhidong Cen MD, PhD,&nbsp;Dehao Yang MD, PhD,&nbsp;Xinhui Chen MD,&nbsp;Reza Maroofian PhD,&nbsp;Henry Houlden MD, PhD, FRCP, FRCPath, FMedSci,&nbsp;Gioia Cappelletti PhD,&nbsp;Anne-Claire Richard BS,&nbsp;Olivier Quenez PhD,&nbsp;Camilo Toro MD,&nbsp;Steven J. Frucht MD,&nbsp;Francesco Lotti PhD,&nbsp;Wei Luo MD, PhD,&nbsp;David Hunt MD, PhD,&nbsp;Gael Nicolas MD, PhD,&nbsp;Giulietta M. Riboldi MD, PhD","doi":"10.1002/mds.70058","DOIUrl":"10.1002/mds.70058","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Primary brain calcifications are observed in several inherited diseases due to different pathogenic mechanisms, including the disruption of the neurovascular unit, mitochondrial dysfunction, and impaired nucleic acid metabolism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of the study was to identify a novel genetic cause of brain calcifications in genetically unresolved cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Exome sequencing data from two unrelated Pakistani patients with generalized dystonia and primary brain calcifications were analyzed. The best candidate gene (ie, <i>RRP12</i>) was then investigated in two large cohorts of patients with brain calcifications from France (n = 111) and China (n = 543). RRP12 loss-of-function phenotype was explored through Western blot and immunocytofluorescence studies on patient-derived fibroblasts and in a knockdown zebrafish model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A combined approach of exome sequencing and homozygosity mapping allowed the prioritization of a rare homozygous variant in <i>RRP12</i> (c.1558C&gt;T, p.R520C) in two apparently unrelated Pakistani patients from consanguineous families, presenting with infantile-onset generalized dystonia, spasticity, and widespread brain calcifications. Screening of two large cohorts of patients with unresolved brain calcifications revealed two affected French siblings and one unrelated Chinese individual, each carrying rare, biallelic, missense variants in the <i>RRP12</i> gene (c.1429G&gt;A, p.E477K and c.2634T&gt;G, p.F878L, respectively). Molecular studies revealed a significant reduction in RRP12 protein and abnormal nucleolar morphology in patient'derived fibroblasts. Consistent with its essential role in RNA metabolism, rrp12 knockdown in zebrafish caused severe developmental delay, crimping, and early lethality.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p><i>RRP12</i> is a novel candidate gene for autosomal recessive brain calcifications, possibly associated with a wide clinical spectrum ranging from early-onset severe forms to adult-onset paucisymptomatic presentations. © 2025 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 12","pages":"2792-2803"},"PeriodicalIF":7.6,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.70058","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145241407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impaired Predictive Coding in the Somatosensory Mismatch Detection Network in Essential Tremor: A Cerebello-Cortical Perspective.","authors":"Virginie Destrebecq,Rovai Antonin,Trotta Nicola,Frederic Supiot,De Tiège Xavier,Naeije Gilles","doi":"10.1002/mds.70066","DOIUrl":"https://doi.org/10.1002/mds.70066","url":null,"abstract":"BACKGROUNDAccording to predictive coding theory, mismatch detection relies on comparing sensory inputs with internal predictions. In the somatosensory domain, this process involves interactions between cerebellar lobule VIII (CL8) and the secondary somatosensory cortex (S2) within the cortical tactile mismatch detection network. Essential tremor (ET) is a cerebellar disorder that provides a model to explore how cerebellar dysfunction affects the tactile mismatch detection network.OBJECTIVESTo test the hypothesis that cerebello-cortical interactions between CL8 and S2, involved in tactile predictions, are altered in ET.METHODSTwenty patients with ET and matched healthy individuals underwent two tactile oddball functional magnetic resonance imaging (fMRI) paradigms, manipulating the predictability of deviant stimuli. fMRI signal and functional connectivity were assessed across the cortical somatosensory mismatch detection network and the CL8. Psychophysiological interaction (PPI) analyses were used to evaluate cerebello-cortical functional connectivity changes related to tactile predictions between ET and healthy individuals.RESULTSIn healthy individuals, the predictable condition elicited reduced fMRI signal compared with the unpredictable condition at S2 cortex and within the cortical mismatch detection network. PPI analysis showed that the predictable condition was characterized by a negative correlation of fMRI signals between S2 cortex and CL8 not observed in the unpredictable condition. ET showed no significant difference in the mismatch detection network according to the predictability of tactile stimuli and no functional connectivity change between CL8 and S2 cortex.CONCLUSIONThese results support a contribution of the cerebellum to impaired predictive coding within the cortical network responsible for detecting tactile mismatches in ET. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"56 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145240961","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":"Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation","authors":"Lorena Travaglini,&nbsp;Cherim Jeon,&nbsp;Teresa Rizza,&nbsp;Antonio Novelli,&nbsp;Nicola Specchio,&nbsp;Anna Piluso,&nbsp;Enrico Bertini,&nbsp;Arcangela Iuso,&nbsp;Giacomo Garone","doi":"10.1002/mds.70079","DOIUrl":"10.1002/mds.70079","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Complex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). <i>SLC27A3</i> gene encodes for the very long-chain acyl-CoA synthetase 3, an acyl-CoA ligase that activates long and very long-chain fatty acids.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We report on a 19-year-old patient with an NBIA pattern harboring a homozygous, nonsense <i>SLC27A3</i> variant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p><i>SLC27A3</i> variants were identified using whole exome sequencing (WES). Their impact on protein function was assessed in patient fibroblasts using Western blot analysis, aerobic metabolism analysis, and fatty acid trafficking assays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patient presented with progressive ataxia, neuropathy, optic atrophy, cognitive deterioration, mood disorder, and brain iron accumulation. WES unraveled the homozygous c.1138C&gt;T, p.(Arg380Ter) variant in the <i>SLC27A3</i> gene. Functional studies showed that proband's variants eliminate protein expression, severely impair mitochondrial respiration, and disrupt lipid turnover.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our results suggest that <i>SLC27A3</i> biallelic nonsense variant may represent a novel cause of NBIA. © 2025 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 12","pages":"2825-2829"},"PeriodicalIF":7.6,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.70079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stridor Is an Independent Risk Factor for Mortality and Disease Progression in Patients with Multiple System Atrophy.","authors":"Pauline Dodet,Cecile Proust-Lima,Federico Sirna,David Bendetowicz,Giulia Lazzeri,Rachel Debs,Anna Delamarre,Margaux Dunoyer,Margherita Fabbri,Claire Georges,Imad Ghorayeb,David Grabli,Cécile Londner,Anne Pavy-Le Traon,Maxime Patout,Olivier Rascol,Isabelle Arnulf,Alexandra Foubert-Samier,Wassilios G Meissner","doi":"10.1002/mds.70080","DOIUrl":"https://doi.org/10.1002/mds.70080","url":null,"abstract":"BACKGROUND AND AIMStridor and sleep apnea syndrome (SAS) are common in multiple system atrophy (MSA). Retrospective cohort studies have yielded conflicting results regarding the consequences of stridor and SAS on the disease course. This study aimed to assess the prognostic significance of stridor and SAS, as well as the potential survival benefits of continuous positive airway pressure (CPAP) therapy.METHODRetrospective data from 232 participants with MSA (mean age 65 years old, 51% male) from the three sites of the French Reference Center for MSA were analyzed. Patients underwent video-polysomnography to confirm the presence of stridor and SAS (AHI >15). Survival analyses adjusted for disease progression, age, sex, MSA subtype, and time since symptom onset were conducted using a joint modeling approach. Disease progression was quantified by the repeated assessments of a six-item composite score and the total Unified MSA Rating Scale I + II.RESULTSStridor was independently associated with an increased risk of mortality (hazard ratio [HR] = 2.44 [1.41;4.22]), even after adjusting for disease progression. Stridor was also linked to more severe disease progression over time. In contrast, SAS did not independently predict mortality or disease progression. CPAP therapy initiation was associated with a substantial reduction in mortality risk after adjusting for center and AHI (HR = 0.40 [0.19;0.85], P = 0.017).DISCUSSIONStridor is a critical prognostic factor in MSA, associated with higher mortality and worse disease progression, whereas SAS alone is not associated with a change in mortality. Patients undergoing CPAP therapy have a much better survival among those with stridor. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"37 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235864","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":"Sympathetic Shift and Insular Alteration: Unravelling the Link Between Anxiety and Heart Rate Variability in Parkinson's Disease","authors":"Lucia Ricciardi, Alessandra Fanciulli, Francescopaolo P. Cucinotta, Bryony Ishihara, Ioana Cociasu, Fahd Baig, Michael Hart, Erlick Pereira, Francesca Morgante, Elena Makovac","doi":"10.1002/mds.70069","DOIUrl":"https://doi.org/10.1002/mds.70069","url":null,"abstract":"BackgroundAnxiety and autonomic dysfunction are frequent non‐motor symptoms of Parkinson's disease (PD). Their relationship, as well as the neural mechanisms underlying this relationship, remain unexplored.ObjectivesWe aimed to investigate the relationship between cardiovascular functions and anxiety in PD and the structural neural changes underlying this putative interaction. We also investigated the effect of dopaminergic medications on such a relationship.MethodsFifty PD patients (27 with anxiety, PD_Anx; 23 without anxiety, PD_noAnx) and 16 age‐ and gender‐matched healthy controls (HC) were included. Blood pressure (BP), heart rate, and heart rate variability (HRV) were assessed at rest and in response to an orthostatic challenge, both ON and OFF dopaminergic medications. Voxel‐based morphometry was used to examine grey matter volume in brain areas linked to autonomic regulation and anxiety, including the amygdala, insula, cingulate cortex, hypothalamus, and putamen.ResultsPD_Anx patients showed significantly lower HRV compared with both PD_noAnx patients and HC (<jats:italic>P</jats:italic> &lt; 0.05), indicating increased sympathetic activity. Both PD groups had higher BP OFF medication compared with HC (<jats:italic>P</jats:italic> &lt; 0.001, <jats:italic>P</jats:italic> &lt; 0.005, respectively); there was no difference between PD_Anx and PD_noAnx (<jats:italic>P</jats:italic> = 0.31). Structural brain analyses showed that anxiety altered the relationship between HRV and left insula volume, with a positive correlation in PD_noAnx patients and a reversed relationship in PD_Anx patients.ConclusionsAnxiety in PD is associated with a shift toward sympathetic predominance, which correlates with structural changes in the insula. Insular alteration may predispose PD patients to heightened sympathetic outflow and anxiety. Changes in HRV may be interpreted as a functional indicator of anxious states in PD. © 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":"6 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145235372","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":"A Biomarker-Based Classification of Corticobasal Syndrome.","authors":"Carla Palleis,Alexander Maximilian Bernhardt,Endy Weidinger,Urban M Fietzek,Alexander Jäck,Sabrina Katzdobler,Johannes Gnörich,Theresa Bauer,Nicolai Franzmeier,Robert Perneczky, ,Matthias Brendel,Johannes Levin,Günter U Höglinger","doi":"10.1002/mds.70070","DOIUrl":"https://doi.org/10.1002/mds.70070","url":null,"abstract":"BACKGROUNDCorticobasal syndrome (CBS) is a clinically defined syndrome with progressive movement and cortical dysfunction, caused by various underlying pathologies, most commonly tau-predominant pathologies such as progressive supranuclear palsy and corticobasal degeneration, or Alzheimer's disease (AD). Lewy-type α-synucleinopathies (LTS), TDP-43 proteinopathies, and mixed pathologies may also underlie CBS. The clinical impact of these pathologies remains poorly understood.OBJECTIVESTo subclassify CBS patients in vivo using biomarkers for amyloid-β (Aβ), Tau, and α-synuclein (αSyn), and assess the clinical relevance of this stratification.METHODSWe conducted a prospective cohort study of 50 CBS patients at LMU University Hospital Munich. Biomarker analysis included cerebrospinal fluid (CSF) Aβ42 and Aβ42/40, [18F]flutemetamol Aβ-PET, [18F]PI-2620 tau-PET, and αSyn seed amplification assays in CSF. CSF neurofilament light chain (NfL) served as a marker of neurodegeneration. Patients were stratified into six groups based on biomarker positivity.RESULTSTau positivity was found in 90% of CBS cases, Aβ in 28%, and αSyn in 24%. Stratification identified: 52% consistent with tau-predominant pathology, 18% with AD, 10% with AD+LTS, 10% with tau-predominant+LTS, 4% with isolated LTS, and 6% unclassified. αSyn positivity was more frequent in AD-CBS (36%) than in tau-predominant-CBS (16%). Aβ-positive cases showed greater cognitive impairment; Tau positivity correlated with worse motor symptoms; αSyn-positive patients had milder motor symptoms, slower progression, and lower NfL levels.CONCLUSIONSCBS is molecularly heterogeneous. Biomarker-based classification may enhance diagnostic precision and support personalized therapeutic strategies. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"18 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145229133","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}