Movement Disorders最新文献

{"title":"Movement Disorders: Volume 41, Number 3, March 2026","authors":"","doi":"10.1002/mds.70279","DOIUrl":"https://doi.org/10.1002/mds.70279","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"26 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147519300","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":"March Infographic","authors":"","doi":"10.1002/mds.70281","DOIUrl":"https://doi.org/10.1002/mds.70281","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"148 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147518900","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":" STUB1 ( SCA48 )/ TBP ( SCA17 ): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles","authors":"Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond","doi":"10.1002/mds.70296","DOIUrl":"https://doi.org/10.1002/mds.70296","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"44 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147518902","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":"Risk Factors for the Diagnosis of Progressive Supranuclear Palsy in the UK Biobank","authors":"Charlie Weige Zhao, Marian Dale, Alexander Pantelyat, Maria Carmela Tartaglia, Ruth B. Schneider, David G. Coughlin, Federico Rodriguez‐Porcel, Zbigniew Wszolek, Tao Xie, Lawrence I. Golbe, James B. Rowe, Anne‐Marie Wills","doi":"10.1002/mds.70287","DOIUrl":"https://doi.org/10.1002/mds.70287","url":null,"abstract":"Background Progressive supranuclear palsy (PSP) is a tauopathy for which there is limited understanding of epidemiological risk factors. Objective The objective of this study was to identify premorbid nonmedical and medical risk factors for PSP diagnosis in a large prospective population‐based cohort. Methods We performed a matched nested case–control study using the UK Biobank (UKB) cohort consisting of &gt;500,000 adults aged 37 to 73 years. PSP diagnoses were identified from 2007 to censor date (August 2025) and matched 1:10 by age and sex to control subjects without parkinsonism or dementia diagnoses. We derived risk factors using an iterative logistic regression approach. Results There were 240 incident PSP diagnoses in the UKB. In the fully adjusted model, premorbid depression (odds ratio [OR], 3.22; 95% confidence interval [CI], 2.30–4.50; <jats:italic>P</jats:italic> &lt; 0.001), delirium (OR, 6.76; 95% CI, 4.08–11.19; <jats:italic>P</jats:italic> &lt; 0.001), and functional gastrointestinal disorders (OR, 1.91; 95% CI, 1.39–2.63; <jats:italic>P</jats:italic> &lt; 0.001) were associated with increased risk. Heavy alcohol consumption was associated with higher risk compared with moderate consumption (OR, 1.65; 95% CI: 1.21–2.26; <jats:italic>P</jats:italic> = 0.0017). Body mass index (BMI) and alcohol consumption had nonlinear risk profiles. Cancer diagnosis was inversely associated with PSP (OR, 0.56; 95% CI, 0.40–0.79; <jats:italic>P</jats:italic> &lt; 0.001). Depression and delirium diagnoses remained significant 5 to 10 years before diagnosis. Conclusions In this large prospective cohort, PSP was associated with premorbid lifestyle practices and neuropsychiatric diagnoses years before diagnosis. This suggests a long premotor phase and highlights opportunities for earlier diagnosis and further mechanistic investigation. The inverse association with cancer mirrors the relationship seen in other neurodegenerative conditions and may point toward shared mechanisms. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"5 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147518901","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":"Pathogenic Variants in the PRKRA Gene Can Result in a Rapid-Onset Dystonia-Parkinsonism-like Phenotype.","authors":"Maeve Bradley,Senan Maher,Christian Espinoza-Vinces,Kathleen Gorman,Tim Lynch,Richard A Walsh,Alberto J Espay,Conor Fearon","doi":"10.1002/mds.70286","DOIUrl":"https://doi.org/10.1002/mds.70286","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"17 2 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147502347","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":"Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models","authors":"Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega","doi":"10.1002/mds.70271","DOIUrl":"https://doi.org/10.1002/mds.70271","url":null,"abstract":"Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the <jats:italic>ATXN3</jats:italic> gene, leading to toxic protein aggregate formation and cellular pathway dysfunction. The dysfunction of cellular pathways also correlates with stress responses, such as the formation of stress granules (SG). Recent research suggests that SG and their components contribute to polyglutamine disease pathogenesis. Methods We combined the analysis of two mouse models for SCA3, data from RNA sequencing, and postmortem brain tissue samples. Results This study intended to clarify the role of the SG component, calcium‐regulated heat‐stable protein 1 (CARHSP1), in SCA3. Among several SG components, CARHSP1 was found to be upregulated genetically in SCA3. The downregulation of <jats:italic>Carhsp1</jats:italic> reduced the density of mutant protein aggregates, while enhancing motor function and alleviating neuropathological defects in SCA3 mouse models. Conclusions The findings indicate that modulating CARHSP1 and possible other SG components may provide a molecular target for therapeutics in SCA3, emphasizing the role of SG in polyQ disorders. © 2026 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":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147478084","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 Movement Disorder Spectrum of ATP1A3 ‐Related Disorders: Cross‐Sectional Analysis and Video Archive of 88 Patients","authors":"Katerina Bernardi, Anna Zhou, Kathryn Yang, Joshua Rong, Vicente Quiroz, Julian E. Alecu, Habibah A. P. Agianda, Henri J. D. Schmidt, Amy Tam, Siofra Carty, Natalia Espasandin‐Hueter, Alfons Macaya, Maria Stamelou, Tamara Pringsheim, Margaret Means, Arpita Lakhotia, Joanna Blackburn, Alonso Zea Vera, Leonie Felicia Becker, Norbert Brüggemann, Alexander Münchau, Yury Seliverstov, Lindsey Vogt, Carolina Gorodetsky, Jesse M. Levine, Alyssa D. Runco, Daniel G. Calame, Lifang Dai, Changhong Ding, Darius Ebrahimi‐Fakhari","doi":"10.1002/mds.70227","DOIUrl":"https://doi.org/10.1002/mds.70227","url":null,"abstract":"Background <jats:italic>ATP1A3</jats:italic> ‐related disorders are characterized by genetic heterogeneity and phenotypic pleiotropy, posing significant challenges for classification. Although canonical phenotypes have traditionally guided decision‐making, increasing evidence highlights their limitations in capturing the clinical complexity. Objective The aims of this study were to characterize movement disorders, paroxysmal features, and genotype–phenotype relationships; to build a curated video archive; and to assess alignment with canonical phenotypes. Methods This is an observational study of 88 individuals with pathogenic or likely pathogenic variants in <jats:italic>ATP1A3</jats:italic> who were evaluated in specialized movement disorders programs. Results Age at last clinical follow‐up ranged from 0.1 to 63 years; 80.7% were pediatric patients. Chronic movement disorders were present in 68 of 88 individuals (75%); most had two or more coexisting phenomenologies. Dystonia was most common (47/88, 53%), followed by spasticity (28/88, 32%) and ataxia (28/92, 32%). Paroxysmal events occurred in 78 of 88 (88%) patients, including dystonic spells (45/78, 58%), abnormal eye movements (39/78, 50%), and hemiplegic episodes (37/78, 47%). Common comorbidities included epilepsy (21/88, 24%), cognitive impairment (41/88, 47%), and neuropsychiatric disorders. Only 22 of 88 (25%) fulfilled criteria for a single canonical phenotype; 28 of 88 (32%) met canonical criteria plus additional features, 18 of 88 (20%) satisfied criteria for ≥2 canonical phenotypes, and 20 of 88 (23%) fit no canonical category. We identified 43 distinct <jats:italic>ATP1A3</jats:italic> variants; recurrent variants (eg, p.Arg756His, p.Asp801Asn, p.Glu818Lys) showed variable expressivity across categories. Conclusions The extensive clinical heterogeneity in <jats:italic>ATP1A3</jats:italic> ‐related disorders challenges rigid phenotypic classifications. The predominance of patients with overlapping or atypical features supports a shift toward flexible, symptom‐based clinical approaches rather than strict reliance on canonical phenotype recognition. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"31 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147478116","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":"Diagnostic Value of Glycocalyx Shedding in Blood for Differentiating between Parkinson's Disease and Multiple System Atrophy","authors":"Jonas Folke, Brian DellaValle, Mathias Lindh Jørgensen, Phillip Bredahl Mogensen, Casper Hempel, Jørgen Rungby, Anne‐Mette Hejl, Annemette Løkkegaard, Lisette Salvesen, Sara Bech, Mette Møller, Erik Hvid Danielsen, Morten Blaabjerg, Matthias Bode, Tomasz Brudek, Susana Aznar","doi":"10.1002/mds.70274","DOIUrl":"https://doi.org/10.1002/mds.70274","url":null,"abstract":"Background Blood–brain barrier disruption is increasingly recognized in synucleinopathies, but the role of the endothelial glycocalyx (GLX) in Parkinson's disease (PD) and multiple system atrophy (MSA) remains unclear. Objectives The aim was to determine whether plasma GLX markers differ between PD, MSA, and healthy controls (HC), relate to clinical measures, and support differential diagnosis. Methods Nine GLX analytes were quantified in plasma from 38 PD, 24 MSA, and 46 HC. Group differences were tested with multilinear regression including age and sex; associations with disease duration, Hoehn and Yahr stage, and Montreal Cognitive Assessment score were examined; gradient boosting classifiers plus Shapley Additive Explanations and univariate receiver operating characteristic (ROC) analyses evaluated discriminative performance. Results PD showed reduced biglycan and cluster of differentiation 44 (CD44), whereas MSA showed increased chondroitin sulfate and reduced perlecan and CD44 versus comparators. Several GLX markers correlated with duration and cognition. Multianalyte GLX signatures classified groups with ROC area under curve, 0.79 to 0.88. Conclusions In this exploratory cohort, distinct GLX signatures reflect disease‐specific neurovascular dysfunction and may aid stratification and monitoring. © 2026 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":"8 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147478118","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":"Putamen Atrophy as a Predictive Factor of Efficacy of GPi ‐ DBS in Dystonia‐Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy","authors":"Marylou Grasso, Pierre‐Olivier Moser, Sidonie Sauvageot, Valérie Gil, Emilie Chan‐Seng, Emily Sanrey, Philippe Coubes, Gaëtan Poulen","doi":"10.1002/mds.70275","DOIUrl":"https://doi.org/10.1002/mds.70275","url":null,"abstract":"Background Perinatal hypoxic–ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia‐dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi‐DBS) may provide a therapeutic option. However, predicting outcomes remains challenging because of clinical heterogeneity and variable responses. Objectives This retrospective study aims to identify preoperative imaging predictors of GPi‐DBS efficacy in patients with DDS secondary to HIE, focusing on putaminal atrophy as a potential criterion. Methods We retrospectively analyzed 73 patients with DDS secondary to HIE who underwent GPi‐DBS at our institution from 2003 to 2023. Clinical outcomes were assessed using the Burke‐Fahn‐Marsden Dystonia Rating Scale (BFMDRS) and Barry‐Albright Dystonia Scale (BADS) at baseline and up to 15 years post‐surgery. Preoperative magnetic resonance imaging scans were qualitatively and quantitatively evaluated to assess putaminal atrophy. Statistical analyses explored the relationships between imaging findings, clinical severity, and DBS outcomes. Results Patients with severe putaminal atrophy exhibited significantly higher preoperative BFMDRS motor and disability scores, correlating with a limited response to DBS at 1‐year follow‐up ( <jats:italic>P</jats:italic> &lt; 0.05). Volumetric analysis confirmed that greater putaminal atrophy was associated with poorer motor improvements post‐surgery. The predictive value of putaminal volume for long‐term outcomes remained significant at 5‐year follow‐up. Conclusions Putaminal atrophy is a key predictor of suboptimal outcomes following GPi‐DBS in patients with HIE‐related DDS. These findings highlight the importance of preoperative imaging in candidate selection and underscore the need for alternative strategies in patients with severe post‐anoxic basal ganglia damage. © 2026 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":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147478083","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":"RNA Toxicity and Interacting RNA ‐Binding Protein NOVA2 of ( UUUCA )exp RNA Foci in Familial Cortical Myoclonic Tremor with Epilepsy","authors":"Fan Zhang, Yiling Chen, Shuqi Chen, Haibin Xia, Yiying Zhang, Xinhui Chen, Bo Wang, Junfeng Ji, Zhidong Cen, Wei Luo","doi":"10.1002/mds.70270","DOIUrl":"https://doi.org/10.1002/mds.70270","url":null,"abstract":"Background Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant neurological disease characterized by cortical myoclonic tremor and epileptic seizures. The proposed pathogenic (TTTCA) pentanucleotide repeat expansion (exp) insertion, flanking the polymorphic (TTTTA)exp, has been reported in seven distinct FCMTE causative genes/loci, and a repeat motif‐specific phenotype correlation is claimed. However, the pathogenic mechanism of FCMTE is still poorly understood. Methods We investigated how the (TTTCA)exp insertion causes the disease, mainly employing the FCMTE1 patients‐induced pluripotent stem cell‐derived neurons (iPSC‐neurons), focusing on the formation of (UUUCA)exp RNA foci and their associated cellular toxicity. Results First, (TTTCA)exp insertion neither altered SAMD12 expression nor translates into repeat peptides. Second, (UUUCA)exp RNA foci were detected in both the constructed cell line and iPSC‐neurons, and presented toxicity effects. Third, NOVA2, a neuron‐specific splicing regulator, was identified as the key RNA‐binding protein interacting with (UUUCA)exp RNA. The (UUUCA)exp RNA disrupted the nuclear distribution pattern of NOVA2, and reciprocally, knockdown of NOVA2 promoted the formation of (UUUCA)exp RNA foci. Shared synaptic‐related pathways of alternative splicing events were observed in both FCMTE1‐iPSC‐neurons and NOVA target genes. Conclusions These findings support a repeat motif‐dependent mechanism involving (UUUCA)exp RNA foci and the functional disruption of the key RNA‐binding protein NOVA2, providing valuable insights for future studies on FCMTE and other pentanucleotide repeat expansion diseases. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"11 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147478117","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}