Movement Disorders最新文献

{"title":"Somato‐Cognitive Action Network in Focal Dystonia","authors":"Yuchao Wang, Baothy Huynh, Jianxun Ren, Mo Chen, Wei Zhang, Dan Hu, Shasha Li, Hesheng Liu, Teresa J. Kimberley","doi":"10.1002/mds.70021","DOIUrl":"https://doi.org/10.1002/mds.70021","url":null,"abstract":"BackgroundThe central pathology causing idiopathic focal dystonia remains unclear. The recently identified somato‐cognitive action network (SCAN) has been implicated.ObjectiveWe tested whether the effector‐agnostic SCAN may constitute a central pathology shared across dystonia subtypes, whereas the effector‐specific regions in the primary sensorimotor cortex may show distinct functional changes specific to the dystonic body part.MethodsWe collected functional magnetic resonance imaging (MRI) from patients with focal dystonia (laryngeal dystonia [LD], N = 24; focal hand dystonia [FHD], N = 18) and healthy control participants (N = 21). Regions of interest were selected a priori within the basal ganglia‐thalamo‐cortical and cerebello‐thalamo‐cortical sensorimotor pathways. We investigated dystonia‐dependent resting‐state connectivity changes: between SCAN and related cortical regions, between cortical and noncortical regions, and among noncortical regions. Cortical network boundaries were individualized based on resting‐state data. Separately, individualized hand and mouth/larynx regions were also generated from task‐based MRI (finger‐tapping and phonation, respectively) for comparison.ResultsBoth focal dystonia subtypes showed significant functional changes (<jats:italic>P</jats:italic> = 0.048 for LD, <jats:italic>P</jats:italic> = 0.017 for FHD) compared to controls, driven by SCAN's higher functional connectivity to task‐based mouth/larynx region and concomitantly lower connectivity to the cingulo‐opercular network. No significant subcortical or cerebellar changes were observed when LD and FHD were modeled as independent groups. However, exploratory analysis combining LD and FHD suggested a dystonia‐dependent asynchronization between SCAN and sensorimotor cerebellum (<jats:italic>P</jats:italic> = 0.010) that may indicate a pathological rather than compensatory process.ConclusionsWe demonstrate that SCAN is uniquely associated with focal dystonia dysfunction beyond the dystonic effector regions, offering insights into pathophysiology and treatments. © 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":"55 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144915359","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":"Distinct AQP4 Alterations in Movement Disorders with Primary Synucleinopathy","authors":"Lingbing Wang, Onur Tanglay, Feifei Su, Hongyun Li, Jun Liu, Woojin S. Kim, Glenda M. Halliday, YuHong Fu","doi":"10.1002/mds.70023","DOIUrl":"https://doi.org/10.1002/mds.70023","url":null,"abstract":"BackgroundAquaporin‐4 (AQP4) is involved in clearing amyloidogenic proteins, but it remains unexplored how it is comparatively altered in neuron‐ and oligodendrocyte‐predominant synucleinopathies.ObjectiveThe aim was to assess AQP4 protein localization and abundance in Parkinson's disease (PD) and multiple system atrophy (MSA).MethodsThe motor cortex and subcortical white matter of PD (n = 29), MSA (n = 19), and controls (n = 17) were immunohistochemically analyzed.ResultsIn normal aging, neuritic plaques caused an increase in AQP4 abundance without altering polarization. Arteriolosclerosis and immunosuppressant medications had no impact. AQP4 endfeet recruitment decreased in early PD but recovered in late PD by enhanced polarization. AQP4 was depolarized in MSA‐parkinsonian type, but unaffected in MSA‐cerebellar type, with both preserved AQP4 endfeet recruitment. In controls with neuritic plaques and PD, AQP4 changes were predominantly in superficial cortical layers, with no regional preference in MSA.ConclusionThe distinct AQP4 changes in neuronal and glial synucleinopathies underscore different pathomechanisms, warranting further investigation. © 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":"13 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144906050","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":"Reply to: Beta Coherence in Camptocormia: Marker of Compensation or Maladaptive Motor Memory?","authors":"Tauqeer Anjum, Jan Raethjen, Nils G. Margraf, Muthuramen Muthuraman","doi":"10.1002/mds.70019","DOIUrl":"https://doi.org/10.1002/mds.70019","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"50 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144899095","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 Coherence in Camptocormia: Marker of Compensation or Maladaptive Motor Memory?","authors":"Halil Onder, Suha Kavasoglu, Funda Uysal Tan, Bulent Guven, Hayat Guven","doi":"10.1002/mds.70020","DOIUrl":"https://doi.org/10.1002/mds.70020","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"80 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144899297","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":"Electrophysiological Evidence for Impaired Central Pain Modulation in Parkinson's Disease","authors":"Dilara Kersebaum, Josephine Lassen, Julia Forstenpointner, Manon Sendel, Sophie‐Charlotte Fabig, Sonja Nölker, Juliane Sachau, Steffen Paschen, Daniela Berg, Ralf Baron, Philipp Hüllemann","doi":"10.1002/mds.70004","DOIUrl":"https://doi.org/10.1002/mds.70004","url":null,"abstract":"BackgroundThere is a remarkable overlap between structures involved in pain perception and the pathophysiology of Parkinson's disease (PD). Recent efforts to allocate pain into mechanistic subtypes require a better understanding of central pain processing in PD patients.ObjectivesThe aim of this study was to show electrophysiological evidence for altered central pain processing in a patient group with PD, taking their reported pain, somatosensory profile, and motor symptoms as well as pharmacotherapy into account.MethodsThe laser‐evoked‐potential (LEP)‐habituation paradigm and quantitative sensory testing were applied to PD patients (n = 41) in the off‐<jats:sc>l</jats:sc>‐dopamine (levodopa) state. The development of LEP amplitudes and laser pain ratings over the course of 100 painful stimuli was compared to those of an age‐matched control group (n = 24). The Unified Parkinson's Disease Rating Scale (UPDRS) III and the painDETECT questionnaire and medical history, including pharmacotherapy, were assessed and analyzed in context with LEP and pain habituation aiming to find an electrophysiological proxy for central sensitization.ResultsPatients exhibited a significantly reduced capacity for LEP habituation regardless of clinically reported pain and sensory profile. No association of EEG data has been found with the mean <jats:sc>l</jats:sc>‐DOPA equivalent dose taken by the patients.ConclusionsWe hereby report electrophysiological evidence for an impaired central pain modulation in PD patients regardless of pain presentation and individual sensation. Further exploration of abnormal central pain processing in PD using methods like the LEP habituation paradigm or conditioned pain modulation protocol is needed in larger cohorts. © 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":"94 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144899094","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":"Movement Disorders: Volume 40, Number 8, August 2025","authors":"","doi":"10.1002/mds.70022","DOIUrl":"10.1002/mds.70022","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 8","pages":""},"PeriodicalIF":7.6,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.70022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144888489","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":"August Infographic","authors":"","doi":"10.1002/mds.29855","DOIUrl":"10.1002/mds.29855","url":null,"abstract":"<p>\u0000 \u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 Cortical Effects of Dopamine Replacement Account for Clinical Response Variability in Parkinson's Disease</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 8","pages":""},"PeriodicalIF":7.6,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144888484","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":"Comparison of Two α‐Synuclein Seed Amplification Assays for Discrimination of Parkinson Disease and Atypical Parkinsonism","authors":"Marcello Rossi, Carly M. Farris, Simone Baiardi, Giulia Giannini, Franco Magliocchetti, Luisa Sambati, Yihua Ma, Erica Vittoriosi, Giovanna Calandra‐Buonaura, Luis Concha‐Marambio, Piero Parchi","doi":"10.1002/mds.70017","DOIUrl":"https://doi.org/10.1002/mds.70017","url":null,"abstract":"BackgroundSeed amplification assays (SAAs) for misfolded α‐synuclein (syn) have shown inconsistent results in multiple system atrophy (MSA).ObjectiveThe objective of this study was to compare a novel syn SAA (synSAA) that distinguishes between Lewy body disease (LBD) and MSA syn‐seeds (Amprion‐SAA) with an LBD‐specific synSAA (IRCCS Istituto delle Scienze Neurologiche di Bologna [ISNB]‐SAA).MethodsWe applied both assays to cerebrospinal fluid samples from 114 patients with MSA, 49 patients with Parkinson disease (PD), 40 patients with progressive supranuclear palsy (PSP), and 46 controls.ResultsAmprion‐SAA detected type 2 (“MSA‐type”) syn‐seeds in 101 (88.6%) MSA, 3 (6.1%) PD, 4 (10.0%) PSP, and 6 (13.0%) control participants, and type 1 (“LBD‐type”) syn‐seeds in 39 (79.6%) PD, 3 (2.6%) MSA, and 1 (2.5%) PSP participant. ISNB‐SAA detected LBD‐specific syn‐seeds in 40 (81.6%) PD, 4 (3.5%) MSA, and none of the PSP or control participants.ConclusionsAmprion‐SAA, performed at ISNB, uniquely discriminated MSA from both PD and PSP participants with good accuracy. However, it showed lower specificity than ISNB‐SAA, primarily related to the type 2 profile. © 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":"38 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144899099","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":"Plasma Markers of Astrocytic and Axonal Integrity in Idiopathic/Isolated REM Sleep Behavior Disorder (iRBD) as Predictors of Dementia with Lewy Bodies","authors":"Aline Delva, Cinzia Zatti, Amélie Pelletier, Jacques Montplaisir, Jean‐François Gagnon, Gwendlyn Kollmorgen, Tony Kam‐Thong, Thomas Kustermann, Venissa Machado, Ronald B. Postuma","doi":"10.1002/mds.70016","DOIUrl":"https://doi.org/10.1002/mds.70016","url":null,"abstract":"BackgroundPlasma biomarkers of neurodegeneration, astrogliosis, and neuroinflammation have been studied as potential biomarkers in neurodegenerative diseases. This study investigated whether these markers may predict phenoconversion to Parkinson's disease or dementia with Lewy bodies (DLB) in idiopathic/isolated REM sleep behavior disorder (iRBD).MethodsIn this longitudinal, single‐center, iRBD cohort study (enrolled 2004–2022), plasma glial fibrillary acidic protein (GFAP), interleukin‐6 (IL‐6), neurofilament light chain (NfL), snare‐associated protein 25 (SNAP25), soluble triggering receptor expressed on myeloid cells 2 (sTREM2), and chitinase 3‐like protein (YKL‐40) were measured using NeuroToolKit (Roche Diagnostics International Ltd). Associations between baseline plasma biomarkers and eventual development of manifest synucleinopathy during follow‐up (up to 11 years) were assessed.ResultsA total of 143 iRBD participants (110 male, 67.7 ± 8.0 years) were included. Compared with non‐phenoconverters, DLB‐converters had higher baseline GFAP (0.115 vs. 0.071 ng/ml, <jats:italic>P</jats:italic> = 0.002) and NfL (3.55 vs. 2.51 pg/ml, <jats:italic>P</jats:italic> = 0.010). Baseline levels predicted DLB using non‐phenoconverters without mild cognitive impairment as reference with area under the curve (AUC) = 0.79 for GFAP and 0.84 for NfL.ConclusionHigher plasma GFAP and NfL were associated with increased risk of developing DLB in prodromal synucleinopathies. © 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":"50 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144899098","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":"GAA‐FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications","authors":"Elisabetta Indelicato, Zofia Fleszar, David Pellerin, Wolfgang Nachbauer, Stephan Zuchner, Andreas Traschütz, Matthias Amprosi, Ludger Schöls, Tobias B. Haack, Bernard Brais, Sylvia Boesch, Matthis Synofzik","doi":"10.1002/mds.30328","DOIUrl":"https://doi.org/10.1002/mds.30328","url":null,"abstract":"BackgroundAn intronic (GAA)•(TTC) repeat expansion in <jats:italic>FGF14</jats:italic> was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting with both chronic cerebellar ataxia and episodic symptoms. The phenotype of SCA27B overlaps with that of <jats:italic>CACNA1A</jats:italic> spectrum disorders.ObjectiveThe objective of this work was to investigate the prevalence of GAA‐<jats:italic>FGF14</jats:italic> repeat expansions in patients with ataxia so far considered to be related to underlying <jats:italic>CACNA1A</jats:italic> variants.MethodsThis is a cross‐sectional multicenter study.ResultsGAA‐<jats:italic>FGF14</jats:italic> testing showed pathogenic expansions (≥250 repeats) in 6/67 (9%) patients carrying <jats:italic>CACNA1A</jats:italic> variants. All patients with a pathogenic GAA‐<jats:italic>FGF14</jats:italic> expansion had a disease onset &gt;40 years and carried variants of uncertain significance (VUSs) in <jats:italic>CACNA1A</jats:italic>. Genetic reevaluation led to the reclassification of <jats:italic>CACNA1A</jats:italic> VUSs as likely benign in four of six patients, who were ultimately diagnosed with SCA27B.ConclusionsLate‐onset ataxia cases previously considered as <jats:italic>CACNA1A</jats:italic>‐related disorder should be reevaluated and tested for SCA27B, particularly if related to a VUS in <jats:italic>CACNA1A</jats:italic>. © 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":"146 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144899171","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}