Movement Disorders最新文献

筛选
英文 中文
Friedreich's Ataxia in Colombia: A Population-Based Study of Incidence and Socioeconomic Determinants. 哥伦比亚弗里德赖希的共济失调:一项基于人群的发病率和社会经济决定因素研究。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-19 DOI: 10.1002/mds.70033
Cristian Correa-Arrieta,Sandra Castellar-Leones,Edicson Ruiz-Ospina,Milena Villamil-Osorio,Edna Julieth Bobadilla-Quesada,Fernando Ortiz-Corredor
{"title":"Friedreich's Ataxia in Colombia: A Population-Based Study of Incidence and Socioeconomic Determinants.","authors":"Cristian Correa-Arrieta,Sandra Castellar-Leones,Edicson Ruiz-Ospina,Milena Villamil-Osorio,Edna Julieth Bobadilla-Quesada,Fernando Ortiz-Corredor","doi":"10.1002/mds.70033","DOIUrl":"https://doi.org/10.1002/mds.70033","url":null,"abstract":"BACKGROUNDFriedreich's ataxia (FA) is the most common hereditary ataxia in people of European ancestry. Diagnosis requires molecular confirmation, which is challenging in low-resource settings. Although FA is listed in Colombia's national registry of orphan diseases, no population-based study has described its epidemiologic or sociodemographic features.OBJECTIVETo estimate FA incidence in Colombia and characterize geographic distribution, age at diagnosis, educational attainment, and employment status.METHODSWe performed a descriptive, retrospective, cross-sectional study using Colombia's National Public Health Surveillance System (SIVIGILA) from 2017-2024. Only genetically confirmed cases-biallelic GAA repeat expansions in FXN-were included. Variables were annual and cumulative incidence (per 1,000,000), departmental distribution, age at diagnosis, education level, and occupational status. Because age at symptom onset was unavailable, age at diagnosis was used as a proxy.RESULTSNinety-two genetically confirmed cases were identified across 17 departments. Bogotá registered the most cases (32.6%), whereas Vichada showed the highest adjusted cumulative incidence (58.33 per million). The 10-19-year group accounted for the largest share of diagnoses (35.9%); 23.9% were diagnosed at ≥40 years. Marked social vulnerability was observed: 27.2% had no formal education and 60.9% were outside the labor force.CONCLUSIONThis first nationwide report of FA in Colombia shows low incidence, pronounced regional disparities, frequent diagnoses in older age groups, and substantial socioeconomic exclusion. Expanding molecular diagnostics, strengthening surveillance, and implementing equity-focused health policies are urgently needed to enable earlier detection and comprehensive multidisciplinary care. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"6 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145083538","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}
引用次数: 0
Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia. 原发性脑钙化和阵发性运动障碍之间的遗传和表型重叠。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-19 DOI: 10.1002/mds.70046
Dehao Yang,Yangguang Lu,Honghao Huang,Zihan Jiang,Yiran Bu,Zhiru Lin,Haotian Wang,Lebo Wang,Chenxin Ying,Nan Jin,Yixin Kang,Xiaosheng Zheng,Zhidong Cen,Wei Luo
{"title":"Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.","authors":"Dehao Yang,Yangguang Lu,Honghao Huang,Zihan Jiang,Yiran Bu,Zhiru Lin,Haotian Wang,Lebo Wang,Chenxin Ying,Nan Jin,Yixin Kang,Xiaosheng Zheng,Zhidong Cen,Wei Luo","doi":"10.1002/mds.70046","DOIUrl":"https://doi.org/10.1002/mds.70046","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"38 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145083540","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}
引用次数: 0
Expanding the Autosomal Recessive Gene Spectrum of Parkinson's Disease: A Study within the CPD10KGP. 扩大帕金森病常染色体隐性基因谱:CPD10KGP的研究。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-17 DOI: 10.1002/mds.70039
Yuwen Zhao,Hongxu Pan,Yige Wang,Juan Chen,Haoyu Guan,Zuowen Ren,Xiaoxia Zhou,Yaqin Xiang,Heng Wu,Jieqiong Tan,Qiying Sun,Qian Xu,Junling Wang,Lu Shen,Hong Jiang,Xinxiang Yan,Jinchen Li,Jifeng Guo,Zhenhua Liu,Beisha Tang
{"title":"Expanding the Autosomal Recessive Gene Spectrum of Parkinson's Disease: A Study within the CPD10KGP.","authors":"Yuwen Zhao,Hongxu Pan,Yige Wang,Juan Chen,Haoyu Guan,Zuowen Ren,Xiaoxia Zhou,Yaqin Xiang,Heng Wu,Jieqiong Tan,Qiying Sun,Qian Xu,Junling Wang,Lu Shen,Hong Jiang,Xinxiang Yan,Jinchen Li,Jifeng Guo,Zhenhua Liu,Beisha Tang","doi":"10.1002/mds.70039","DOIUrl":"https://doi.org/10.1002/mds.70039","url":null,"abstract":"OBJECTIVESParkinson's disease (PD) has a complex genetic etiology, with autosomal recessive (AR) genes significantly contributing. This study uses next-generation sequencing (NGS) and long-read sequencing data (LRS) in Chinese AR-PD families to uncover novel genes, enhancing our genetic comprehension of PD.METHODSWe investigated 162 AR-PD families and 1570 sporadic early-onset PD patients, combining homozygous mapping and whole-exome sequencing (WES) to identify candidates. Using the GenoPriori-WeightSchem approach, we conducted population-based prioritization of candidate genes. We prioritized biallelic loss-of-function variants in the candidate gene pool. LRS dataset were analyzed to investigate genes with structural genomic variants. The identified candidates were further validated in 3947 PD cases from our in-house whole-genome sequencing (WGS) dataset, along with 3100 PD cases derived from the UK Biobank WES dataset.RESULTSAnalysis of WES data from 25 core AR-PD families revealed five candidate genes: ROBO1, LMBR1L, RIOX2, INTS2, and H6PD. The GenoPriori-WeightSchem approach highlighted an additional five candidate genes: SORL1, PSD2, BRD9, EPG5, and SH3PXD2A. Focusing on homozygous loss-of-function variants, indicative of severe genetic impact, we identified six genes in AR-PD families: LRPPRC, PPP1R1B, C1RL, LNPK, HSD11B1L, and PPP1R3E. LRS data from 38 families revealed a homozygous structure variant, a 6.3 kb deletion, in the COL24A1 gene. Finally, eight of the identified candidate genes were consistently associated with PD in two independent replication stages.CONCLUSIONSOur study identified eight promising candidate genes using a large sample of AR-PD families, combining NGS and LRS data, which may expand the spectrum of candidate autosomal recessive genes responsible for PD. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"18 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071666","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}
引用次数: 0
Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1-Spinocerebellar Ataxia 50. 肌张力障碍和共济失调与脑铁积累有关:扩大nptx1 -脊髓小脑性共济失调的表型
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-16 DOI: 10.1002/mds.70024
Gianmarco Dalla Zanna,Alessandra Tessa,Salvatore Rossi,Antonio Funcis,Francesca Brambati,Anna Modoni,Rosellina Russo,Paolo Calabresi,Filippo Maria Santorelli,Gabriella Silvestri
{"title":"Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1-Spinocerebellar Ataxia 50.","authors":"Gianmarco Dalla Zanna,Alessandra Tessa,Salvatore Rossi,Antonio Funcis,Francesca Brambati,Anna Modoni,Rosellina Russo,Paolo Calabresi,Filippo Maria Santorelli,Gabriella Silvestri","doi":"10.1002/mds.70024","DOIUrl":"https://doi.org/10.1002/mds.70024","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"57 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071664","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}
引用次数: 0
Levodopa Disrupts Activity Patterns and Encoding of Movement in Striatal Cholinergic Interneurons of Behaving Mice. 左旋多巴破坏行为小鼠纹状体胆碱能中间神经元的活动模式和运动编码。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-15 DOI: 10.1002/mds.70018
Yara Atamna,Lior Tiroshi,Nadine Wattad,Naomi Gilin,Shelly Gilad,Noa Berkowitz,Joshua A Goldberg
{"title":"Levodopa Disrupts Activity Patterns and Encoding of Movement in Striatal Cholinergic Interneurons of Behaving Mice.","authors":"Yara Atamna,Lior Tiroshi,Nadine Wattad,Naomi Gilin,Shelly Gilad,Noa Berkowitz,Joshua A Goldberg","doi":"10.1002/mds.70018","DOIUrl":"https://doi.org/10.1002/mds.70018","url":null,"abstract":"OBJECTIVESLevodopa treatment, the gold standard therapy for Parkinson's disease, can lead to levodopa-induced dyskinesias (LIDs). Recent studies in acute brain slices have implicated the neural dynamics of striatal cholinergic interneurons (CINs) in the pathophysiology of LID, reporting that their discharge becomes more bursty in dyskinetic mice. However, little is known about how parkinsonism and levodopa affect CINs in vivo.METHODSWe used microendoscopic imaging in the dorsal striatum of the genetically encoded Ca2+ indicator, GCaMP6f, expressed in cholinergic neurons. We imaged the collective, simultaneous activity of several molecularly identified CINs in the dorsal striatum, in control mice, as well as in mice rendered parkinsonian with 6-hydroxydopamine (6-OHDA).RESULTSWe found that 6-OHDA drove a levodopa-insensitive increase in the baseline rate of activity of CINs and a reduction in their responsiveness to self-initiated movement. Furthermore, levodopa treatment (even before the appearance of LIDs) drove an increase in the amplitude of the individual Ca2+ events (perhaps indicative of more burst-like discharge), which correlated with a further reduction in the number of CINs responsive to movement.CONCLUSIONS6-OHDA treatment disrupts the robust encoding of movement by CINs. Levodopa disrupts the activity of CINs, possibly making them more bursty in vivo, even before the manifestation of LIDs. Thus, molecularly-identified CINs are implicated in the pathophysiology of parkinsonism. Not only does levodopa fail to restore their normal dynamics, but it actually exacerbates their abnormal burstiness. © 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":"52 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145059073","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}
引用次数: 0
Very High Frequency of Early-Onset Parkinson's Disease and PRKN Mutations among Indigenous Patients in Sabah, Malaysia. 早发性帕金森病和PRKN突变在马来西亚沙巴土著患者中的高频率
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-15 DOI: 10.1002/mds.70015
Yi Wen Tay,Joshua Chin Ern Ooi,Shen-Yang Lim,Yuen Kang Chia,Aina Sukri,Tzi Shin Toh,Jia Lun Lim,Ai Huey Tan,Azlina Ahmad-Annuar
{"title":"Very High Frequency of Early-Onset Parkinson's Disease and PRKN Mutations among Indigenous Patients in Sabah, Malaysia.","authors":"Yi Wen Tay,Joshua Chin Ern Ooi,Shen-Yang Lim,Yuen Kang Chia,Aina Sukri,Tzi Shin Toh,Jia Lun Lim,Ai Huey Tan,Azlina Ahmad-Annuar","doi":"10.1002/mds.70015","DOIUrl":"https://doi.org/10.1002/mds.70015","url":null,"abstract":"BACKGROUNDEarly-onset Parkinson's disease (EOPD) affects approximately 10% to 20% of PD patients, with PRKN mutations being the commonest cause. Genetic studies on EOPD in Southeast Asians, especially indigenous populations, are limited.OBJECTIVESTo investigate the frequency and clinical phenotypes of EOPD and PRKN mutations in indigenous populations from Sabah state, Malaysia, and to further characterize the high-frequency PRKN exon 3 deletion in this cohort via breakpoint mapping.METHODSWe recruited 284 indigenous Sabahans (184 PD patients, comprising 157 probands and 100 controls). Patients were clinically phenotyped, and PRKN mutational screening and breakpoint mapping performed using multiplex ligation-dependent probe amplification, polymerase chain reaction, and Sanger sequencing.RESULTSNotably, 43.9% (n = 69/157) of probands had EOPD. Among them, 56.5% (n = 39/69) carried biallelic PRKN mutations, with homozygous exon 3 deletion accounting for two-thirds of the mutations. Remarkably, all PRKN-PD patients carried at least one exon 3 deletion. Patients of the Dusun tribe had the highest frequency of biallelic PRKN mutations (61.8%). Two unique PRKN exon 3 deletion breakpoints were identified in all carriers, suggesting a possible founder effect. Among PRKN-PD patients, those with homozygous exon 3 deletions had a non-significant earlier age of onset (35.8 ± 10.2 vs. 40.1 ± 9.9) and worse disability after controlling for age and disease duration.CONCLUSIONWe found a strikingly high prevalence of EOPD and PRKN mutations in indigenous Sabahans, contributing novel data to the very scarce PD genetics literature on global indigenous populations, and highlighting the discovery of populations at high risk of EOPD possibly due to a combination of founder effect and consanguinity. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"24 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145059122","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}
引用次数: 0
Patient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration. 患者来源的神经元在线粒体膜蛋白相关神经变性中表现出α-突触核蛋白病理和先前未被识别的主要组织相容性复合体I类升高。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-15 DOI: 10.1002/mds.70029
Leonie M Heger,Leonie Kertess,Clara Kaufhold,Francesco Gubinelli,Aida Cardona-Alberich,Gamze Özata,Stephan A Müller,Sarah K Tschirner,Oliver Stehling,Martina Schifferer,Camille Peron,Valeria Tiranti,Roland Lill,Arcangela Iuso,Luigi Zecca,Michael Strupp,Wolfgang Oertel,Stefan F Lichtenthaler,Lena F Burbulla
{"title":"Patient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration.","authors":"Leonie M Heger,Leonie Kertess,Clara Kaufhold,Francesco Gubinelli,Aida Cardona-Alberich,Gamze Özata,Stephan A Müller,Sarah K Tschirner,Oliver Stehling,Martina Schifferer,Camille Peron,Valeria Tiranti,Roland Lill,Arcangela Iuso,Luigi Zecca,Michael Strupp,Wolfgang Oertel,Stefan F Lichtenthaler,Lena F Burbulla","doi":"10.1002/mds.70029","DOIUrl":"https://doi.org/10.1002/mds.70029","url":null,"abstract":"BACKGROUNDMitochondrial membrane protein-associated neurodegeneration (MPAN) from the neurodegeneration with brain iron accumulation (NBIA) family is a rare neurodegenerative disease marked by α-synuclein aggregation, brain iron accumulation, and midbrain dopaminergic neuron degeneration.OBJECTIVEThe mechanisms driving neuron vulnerability remain unclear. Our study aimed to develop a patient-derived disease model replicating key pathologies of patient brains.METHODSWe generated induced pluripotent stem cell-derived midbrain dopaminergic neurons from MPAN patients and examined ultrastructural and biochemical markers of pathology.RESULTSMPAN patient neurons displayed α-synuclein aggregation, axonal swellings, iron accumulation, and severe membrane destruction. In addition, levels of the major histocompatibility complex class I (MHC-I), linked to cellular stress and neurodegenerative processes, were elevated in patient neurons. Treatment with acetyl-leucine, a potentially neuroprotective compound, decreased MHC-I.CONCLUSIONSThis first patient-derived neuronal model of MPAN provides a useful tool for further research aimed at unraveling the complexities of this disease and developing potential therapeutic interventions. © 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":"19 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058995","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}
引用次数: 0
Pregnancy, Delivery, and Neonatal Outcomes in Women with Tourette Syndrome or Chronic Tic Disorder. 图雷特综合征或慢性抽动障碍妇女的妊娠、分娩和新生儿结局。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-10 DOI: 10.1002/mds.70036
Neda Razaz,Lorena Fernández de la Cruz
{"title":"Pregnancy, Delivery, and Neonatal Outcomes in Women with Tourette Syndrome or Chronic Tic Disorder.","authors":"Neda Razaz,Lorena Fernández de la Cruz","doi":"10.1002/mds.70036","DOIUrl":"https://doi.org/10.1002/mds.70036","url":null,"abstract":"BACKGROUNDAdverse pregnancy and neonatal outcomes in women with Tourette syndrome or chronic tic disorder (TS/CTD) have not been systematically studied. This Swedish population-based study investigated associations between maternal TS/CTD and pregnancy, delivery, and neonatal outcomes.METHODSWe included all singleton births at ≥22 weeks between 2001 and 2021. Each pregnancy with TS/CTD was matched on mother's age and delivery year with up to 10 pregnancies without TS/CTD. Crude and adjusted relative risks were estimated using Poisson log-linear regressions.RESULTSWe compared 581 pregnancies in women with TS/CTD to 5777 matched unexposed pregnancies. Maternal TS/CTD was associated with significantly increased risks of gestational diabetes, and elective and emergency cesarean section. Neonates of women with TS/CTD showed no increased risks of adverse neonatal outcomes.CONCLUSIONSMaternal TS/CTD is associated with increased risk of some adverse pregnancy and delivery outcomes, but not with adverse neonatal outcomes. Enhanced maternal care for women with TS/CTD is warranted. © 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":"57 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145025630","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}
引用次数: 0
Defining the Rhythm: Developing a New Method to Describe Tremor and Myoclonus. 定义节律:发展一种描述震颤和肌阵挛的新方法。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-09 DOI: 10.1002/mds.70034
Anna Latorre,Blake Hale,Carla Cordivari,Kais Humaidan,John C Rothwell,Kailash P Bhatia,Lorenzo Rocchi
{"title":"Defining the Rhythm: Developing a New Method to Describe Tremor and Myoclonus.","authors":"Anna Latorre,Blake Hale,Carla Cordivari,Kais Humaidan,John C Rothwell,Kailash P Bhatia,Lorenzo Rocchi","doi":"10.1002/mds.70034","DOIUrl":"https://doi.org/10.1002/mds.70034","url":null,"abstract":"BACKGROUNDThe hallmark feature of tremor is rhythmicity, which can be quantified using power spectral density (PSD) analysis. However, tremor exhibits considerable variability, ranging from highly regular to more irregular patterns. Similarly, rhythmicity in myoclonus varies, but it typically manifests as arrhythmic jerks.OBJECTIVESTo develop PSD-based measures of movement regularity for the classification of tremor and myoclonus.METHODSElectromyography data from 153 patients were analyzed retrospectively, including orthostatic tremor (OT) (n = 36), essential tremor (ET) (n = 40), hand dystonic tremor (DT) (n = 42), and limb cortical myoclonus (n = 35). Five PSD analysis-derived variables were assessed: peak prominence, peak-to-broadband power ratio, peak frequency, peak width, and harmonics. Discriminant analysis evaluated classification accuracy across groups.RESULTSPeak prominence was highest in OT and higher in ET than DT or myoclonus. Peak-to-broadband power ratio showed similar trends. Peak frequency differed across groups, with myoclonus highest and OT exceeding ET and DT. Peak width was larger in myoclonus and, to a less extent, in DT compared with ET. Harmonics were greater in OT and ET compared with DT and myoclonus. Discriminant analysis correctly classified 86.3% of cases, with overlap between ET and DT. Receiver operating characteristic (ROC) curve analysis for peak prominence and width demonstrated high classification accuracy between ET and DT.CONCLUSIONSOur findings represent a promising step toward establishing objective, PSD-based measures for the classification of tremor and myoclonus. These tools could enhance diagnostic accuracy and deepen insights into these disorders. © 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":"35 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145017958","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}
引用次数: 0
Phenotypical Differentiation of Tremor Using Time Series Feature Extraction and Machine Learning 基于时间序列特征提取和机器学习的震颤表型鉴别
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-09-06 DOI: 10.1002/mds.70032
Verena Häring, Veronika Selzam, Juan Francisco Martin‐Rodriguez, Petra Schwingenschuh, Gertrúd Tamás, Linda Köhler, Jan Raethjen, Steffen Paschen, Franziska Goltz, Eoin Mulroy, Anna Latorre, Pablo Mir, Rick C. Helmich, Kailash P. Bhatia, Jens Volkmann, Robert Peach, Sebastian R. Schreglmann
{"title":"Phenotypical Differentiation of Tremor Using Time Series Feature Extraction and Machine Learning","authors":"Verena Häring, Veronika Selzam, Juan Francisco Martin‐Rodriguez, Petra Schwingenschuh, Gertrúd Tamás, Linda Köhler, Jan Raethjen, Steffen Paschen, Franziska Goltz, Eoin Mulroy, Anna Latorre, Pablo Mir, Rick C. Helmich, Kailash P. Bhatia, Jens Volkmann, Robert Peach, Sebastian R. Schreglmann","doi":"10.1002/mds.70032","DOIUrl":"https://doi.org/10.1002/mds.70032","url":null,"abstract":"BackgroundThe clinical diagnosis of tremor disorders depends on the interpretation of subtle movement characteristics, signs, and symptoms. Given the absence of a universally accepted biomarker, differentiation between essential tremor (ET) and tremor‐dominant Parkinson's disease (PD) frequently proves to be non‐trivial.ObjectiveTo identify generalizable tremor characteristics to differentiate ET and PD using feature extraction and machine learning (ML).MethodsHand accelerometer recordings from 414 patients, clinically diagnosed at six academic centers, formed an exploratory (158 ET, 172 PD) and a validation dataset (30 ET, 54 PD). Established, standardized tremor characteristics were assessed for their cross‐center accuracy and validity. Supervised ML was applied to massive higher‐order feature extraction of the same recordings to achieve optimal stratification and mechanistic exploration.ResultsWhile classic tremor characteristics did not consistently differentiate between conditions across centers, the feature combination identified via our ML approach was successfully validated. In comparison with the tremor stability index (TSI), feature‐based analysis provided better classification accuracy (81.8% vs. 70.4%), sensitivity (86.4% vs. 70.8%), and specificity (76.6% vs. 70.2%), substantially improving disease stratification. The interpretation of identified features indicates fundamentally different dynamics in tremor‐generating circuits: while different discrete but stable signal states in PD indicate several central oscillators, signal characteristics in ET point towards a singular pacemaker.ConclusionThis study establishes the use of feature‐based ML as a powerful method to explore accelerometry‐derived tremor signals. The combination of hypothesis‐free, data‐driven analyses and a large, multicenter dataset represents a relevant step towards big data analysis in tremor disorders. © 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":"16 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145003102","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}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信