Movement Disorders最新文献

{"title":"Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation","authors":"Lorena Travaglini, Cherim Jeon, Teresa Rizza, Antonio Novelli, Nicola Specchio, Anna Piluso, Enrico Bertini, Arcangela Iuso, Giacomo Garone","doi":"10.1002/mds.70079","DOIUrl":"https://doi.org/10.1002/mds.70079","url":null,"abstract":"BackgroundComplex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). <jats:italic>SLC27A3</jats:italic> gene encodes for the very long‐chain acyl‐CoA synthetase 3, an acyl‐CoA ligase that activates long and very long‐chain fatty acids.ObjectiveWe report on a 19‐year‐old patient with an NBIA pattern harboring a homozygous, nonsense <jats:italic>SLC27A3</jats:italic> variant.Methods<jats:italic>SLC27A3</jats:italic> 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.ResultsThe 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 <jats:italic>SLC27A3</jats:italic> gene. Functional studies showed that proband's variants eliminate protein expression, severely impair mitochondrial respiration, and disrupt lipid turnover.ConclusionOur results suggest that <jats:italic>SLC27A3</jats:italic> biallelic nonsense variant may represent a novel cause of NBIA. © 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":"79 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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}

{"title":"Functional, Drug-Induced, Autoimmune Movement Disorders","authors":"","doi":"10.1002/mds.30316","DOIUrl":"https://doi.org/10.1002/mds.30316","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 S1","pages":"S246-S270"},"PeriodicalIF":7.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30316","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228157","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":"Allied Healthcare, Quality of Life, Palliative Care, Patient Perspectives","authors":"","doi":"10.1002/mds.30312","DOIUrl":"https://doi.org/10.1002/mds.30312","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 S1","pages":"S61-S77"},"PeriodicalIF":7.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30312","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228184","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":"Hyperkinetic Movement Disorders (Non-Dystonia)","authors":"","doi":"10.1002/mds.30317","DOIUrl":"https://doi.org/10.1002/mds.30317","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 S1","pages":"S271-S381"},"PeriodicalIF":7.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30317","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228183","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":"Parkinson's Disease","authors":"","doi":"10.1002/mds.30318","DOIUrl":"https://doi.org/10.1002/mds.30318","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 S1","pages":"S413-S1072"},"PeriodicalIF":7.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30318","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228185","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":"Dystonia","authors":"","doi":"10.1002/mds.30314","DOIUrl":"https://doi.org/10.1002/mds.30314","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 S1","pages":"S163-S228"},"PeriodicalIF":7.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30314","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228159","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":"Atypical and Other Parkinsonisms","authors":"","doi":"10.1002/mds.30313","DOIUrl":"https://doi.org/10.1002/mds.30313","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 S1","pages":"S78-S162"},"PeriodicalIF":7.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30313","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228158","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}