Movement Disorders最新文献

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Peripheral Mononuclear Cell Mitochondrial Function Associates with T-Cell Cytokines in Parkinson's Disease. 帕金森病外周血单核细胞线粒体功能与t细胞因子相关
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-16 DOI: 10.1002/mds.30233
Fatima Afaar,Priscilla Youssef,Jasmin Galper,Michelle Chua,Glenda M Halliday,Simon J G Lewis,Nicolas Dzamko
{"title":"Peripheral Mononuclear Cell Mitochondrial Function Associates with T-Cell Cytokines in Parkinson's Disease.","authors":"Fatima Afaar,Priscilla Youssef,Jasmin Galper,Michelle Chua,Glenda M Halliday,Simon J G Lewis,Nicolas Dzamko","doi":"10.1002/mds.30233","DOIUrl":"https://doi.org/10.1002/mds.30233","url":null,"abstract":"BACKGROUNDParkinson's disease (PD) is the most common neurodegenerative movement disorder and one of the world's fastest-growing neurological diseases. Although the exact causes of PD are unknown, mitochondrial dysfunction and inflammation may have significant roles in disease progression. As well as being prevalent in the brain, there is also evidence that peripheral mitochondrial dysfunction and inflammation occur in PD. However, if/how peripheral mitochondrial dysfunction and inflammation are linked is still unclear.OBJECTIVESThis study aimed to determine the extent that mitochondrial dysfunction in peripheral immune cells is associated with inflammation in PD.METHODSThe study comprised of 35 controls and 35 PD patients that were age and sex matched. Flow cytometry was used to assess mitochondrial content and superoxide production in mononuclear cells, in the presence and absence of the mitochondrial stressor antimycin A. Serum inflammatory cytokines were measured by ELISA.RESULTSSuperoxide levels were significantly increased in PD patient mononuclear cells at baseline, and PD mononuclear cells had an impaired response to antimycin A. Immune cell superoxide levels correlated with serum cytokines associated with T-cell responses, namely interleukin (IL) IL-12, interferon-γ, and IL-17A.CONCLUSIONSResults show that mitochondrial dysfunction is prevalent in PD immune cells and may contribute to an inflammatory phenotype. © 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":"5 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065873","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
Rapid Eye Movements (REMs) during Non-REM Sleep as a Marker of Alpha-Synucleinopathies. 非快速眼动睡眠期间的快速眼动(rem)作为α -突触核蛋白病的标志。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-15 DOI: 10.1002/mds.30211
Estefania Vargas Gonzalez,Zhongmei Yang,Pauline Dodet,Smaranda Leu-Semenescu,Andreas Brink-Kjaer,Paul Roujansky,Poul Joergen Jennum,François-Xavier Lejeune,Marie Vidailhet,Isabelle Arnulf
{"title":"Rapid Eye Movements (REMs) during Non-REM Sleep as a Marker of Alpha-Synucleinopathies.","authors":"Estefania Vargas Gonzalez,Zhongmei Yang,Pauline Dodet,Smaranda Leu-Semenescu,Andreas Brink-Kjaer,Paul Roujansky,Poul Joergen Jennum,François-Xavier Lejeune,Marie Vidailhet,Isabelle Arnulf","doi":"10.1002/mds.30211","DOIUrl":"https://doi.org/10.1002/mds.30211","url":null,"abstract":"BACKGROUNDAlpha-synuclein-related neurodegeneration affects sleep figures, whether in the prodromal (rapid eye movement [REM] sleep behavior disorder, iRBD) or established (Parkinson's disease [PD] and multiple system atrophy [MSA]) stages.OBJECTIVETo look for abnormal intrusions of REMs in non-REM sleep in alpha-synucleinopathies.METHODSClinical measures and polysomnography were collected from 554 participants with PD (N = 257), iRBD (N = 110), and MSA (N = 71) and 115 controls. Initially, the polysomnography was visually examined for REMs in N2 (presence and index). Subsequently, REMs were automatically detected in all wake and sleep stages, and thresholds discriminating between the disorders were sought.RESULTSThe REMs index in N2 (visually measured) was lower in controls than all patients groups. The REMs index in N2 (automatically measured) was lower in controls than in patients with PD and MSA, but not different from iRBD participants. The optimal cutoff of 4.6 REMs/h of N2 yielded a 77% specificity to discriminate controls from all neurodegenerative groups but sensitivity was 60%. The cutoff to discriminate MSA from PD participants had a low specificity (58%). The optimal cutoff of 2.1/h in iRBD patients had an 80% specificity for distinguishing them from controls.CONCLUSIONSAbnormal intrusion of REMs into non-REM sleep distinguishes participants with alpha-synucleinopathies from controls. This automated technique could be used to identify patients with neurodegenerative disorders in the large number of polysomnograms obtained for other purposes in the elderly. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"78 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143982436","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
Abnormal Brain Iron Metabolism is Linked to Altered Neural Function in Isolated Laryngeal Dystonia. 脑铁代谢异常与孤立性喉张力障碍患者神经功能改变有关。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-15 DOI: 10.1002/mds.30217
Giovanni Battistella,Laura de Lima Xavier,Alexander O Vortmeyer,Kristina Simonyan
{"title":"Abnormal Brain Iron Metabolism is Linked to Altered Neural Function in Isolated Laryngeal Dystonia.","authors":"Giovanni Battistella,Laura de Lima Xavier,Alexander O Vortmeyer,Kristina Simonyan","doi":"10.1002/mds.30217","DOIUrl":"https://doi.org/10.1002/mds.30217","url":null,"abstract":"BACKGROUNDLaryngeal dystonia (LD) is an isolated focal dystonia causing involuntary spasms in the laryngeal muscles that selectively impair speech production. LD is characterized as a functional and structural neural network disorder; however, the mechanistic aspects of network dysfunction in dystonia remain unknown.OBJECTIVEWe hypothesized that iron-induced abnormal metabolic processes may underlie microstructural neuronal damage, contributing to altered neural activity within the dystonic network and, subsequently, the development of the dystonic state.METHODSWe used 7 Tesla magnetic resonance imaging (MRI) at ultra-high field resolution for quantitative susceptibility mapping (QSM) of iron content, multi-echo multi-band resting-state functional MRI (fMRI) of brain activity and functional connectivity, positron emission tomography with [11C]flumazenil radioligand of GABAA neuroreceptor availability, and immunohistochemistry of postmortem brain tissue to investigate iron metabolism in LD patients and healthy controls.RESULTSThe QSM analysis found increased iron content in primary sensorimotor and premotor cortices, inferior frontal, middle frontal, and middle temporal gyri, middle cingulate cortex, superior and inferior parietal lobules, insula, putamen, and cerebellum. Histopathology substantiated the neuroimaging findings by showing focal clusters of iron precipitates in these regions. Increased iron content in the supplementary motor area and middle cingulate cortex was associated with altered neural activity, while increased iron in the middle cingulate cortex, premotor cortex, and putamen had associations with GABAA receptor availability in LD patients.CONCLUSIONAbnormal iron accumulations are likely to contribute to the imbalance of excitatory and inhibitory signaling within the dystonic neural network, leading to altered network dynamics that ultimately contribute to LD development. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"53 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143982453","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
Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children. 婴幼儿帕金森氏症-肌张力障碍量表的开发与初步验证。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-13 DOI: 10.1002/mds.30219
Roser Pons,Toni S Pearson,Belen Perez-Dueñas,Angels Garcia-Cazorla,Manju A Kurian,Zoi Dalivigka,Vasiliki Zouvelou,Chrysa Outsika,Eleftheria Kokkinou,Maria Sigatullina-Bondarenko,Alejandra Darling,Maria Del Mar O'Callaghan,Robert Spaull,Dora B D Steel,Evdokia Salamou,Maria João Forjaz,Carmen Rodriguez-Blazquez
{"title":"Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.","authors":"Roser Pons,Toni S Pearson,Belen Perez-Dueñas,Angels Garcia-Cazorla,Manju A Kurian,Zoi Dalivigka,Vasiliki Zouvelou,Chrysa Outsika,Eleftheria Kokkinou,Maria Sigatullina-Bondarenko,Alejandra Darling,Maria Del Mar O'Callaghan,Robert Spaull,Dora B D Steel,Evdokia Salamou,Maria João Forjaz,Carmen Rodriguez-Blazquez","doi":"10.1002/mds.30219","DOIUrl":"https://doi.org/10.1002/mds.30219","url":null,"abstract":"BACKGROUNDParkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.OBJECTIVEThe aim of this study was to design and validate a scale that effectively assesses parkinsonism-dystonia in early life.METHODSThe Infantile Parkinsonism-Dystonia Rating Scale (IPDRS) was designed to capture the key clinical features of parkinsonism-dystonia in early life. It consists of 28 items across three subscales: Non-motor symptoms, Motor symptoms, and Dyskinesias. Thirty-two patients with hypokinetic movement disorder were scored following a standardized protocol. Filmed motor examinations were analyzed independently by three pediatric movement disorders specialists to evaluate interrater reliability. Twenty additional patients with primary neurotransmitter disorders were scored, and nine of them were evaluated at baseline and after treatment. Psychometric validation was conducted.RESULTSA total of 52 patients were scored using the IPDRS. Mean age was 3.1 years (standard deviation [SD]: 2.0), and the mean IPDRS score was 40.8 (SD: 13.17). Internal consistency analysis demonstrated a Cronbach's α of 0.21 for Non-motor symptoms subscale, 0.84 for Motor symptoms subscale, and 0.95 for Dyskinesia subscale. Kappa indexes exceeded 0.70 in seven items. Correlation coefficients for dystonia items with the Barry-Albright-Dystonia Scale ranged from 0.46 to 0.64. After treatment, all IPDRS scores changed significantly, with an effect size of 2.42.CONCLUSIONSThe IPDRS appears to be a reliable and valid tool for assessing parkinsonism in early life. Further validation studies with a larger sample size are needed to confirm these findings and complete the validation process. © 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":"2 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945247","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
Nocebo Hypothesis Cognitive Behavioral Therapy for Functional Neurological Symptom Disorder (Motor Type): A Pilot Randomized Controlled Trial. 反安慰剂假说认知行为疗法治疗功能性神经症状障碍(运动型):一项随机对照试验。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-12 DOI: 10.1002/mds.30195
Matt Richardson,Maria Kleinstäuber,Dana Wong
{"title":"Nocebo Hypothesis Cognitive Behavioral Therapy for Functional Neurological Symptom Disorder (Motor Type): A Pilot Randomized Controlled Trial.","authors":"Matt Richardson,Maria Kleinstäuber,Dana Wong","doi":"10.1002/mds.30195","DOIUrl":"https://doi.org/10.1002/mds.30195","url":null,"abstract":"BACKGROUNDA previous case series showed that Nocebo Hypothesis Cognitive Behavioral Therapy (NH-CBT) is a promising treatment for Functional Neurological Symptom Disorder (FNSD).OBJECTIVESTo further evaluate the potential efficacy of NH-CBT in participants with FNSD (motor type).METHODSThis phase IIb pilot, randomized, parallel group trial compared the efficacy of NH-CBT (n = 20) with an active control condition (n = 19). Self-report scales of motor and other physical symptoms, psychological variables, and blinded assessor ratings of participants' mobility were administered at baseline, and at 8- and 16-week follow-ups. The primary outcome and endpoint of this trial was the Physical Functioning scale of the Short Form-36 Health Questionnaire (SF-36 PF) at the end of treatment.RESULTSRegarding the primary endpoint (SF-36 at the end of treatment), we did not identify a significant between-group effect (d = 0.21, 95% CI: -0.42-0.84). Significant between-group effects in favor of NH-CBT were identified for several secondary outcomes (motor symptoms: d = 0.67, 95% CI: 0.02-1.32; mobility: d = 0.70, 95% CI: 0.05-1.35; symptom perception \"concern\": d = 0.66, 95% CI: 0.01-1.31). Changes in outcomes within the NH-CBT group showed large effects (d > 0.80) for the primary outcome (SF-36 PF) and the majority of secondary measures post-treatment. A significantly greater proportion of NH-CBT (85%) than control participants (47%) showed full recovery of motor symptoms (P = 0.013).CONCLUSIONSNH-CBT resulted in large within-group effects on the primary outcome as well as the majority of secondary measures in the NH-CBT group and a greater proportion of fully recovered participants compared with an active control treatment. These promising findings warrant a definitive trial. © 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":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932874","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
Neurophysiology of Atypical Parkinsonian Syndromes: A Study Group Position Paper. 非典型帕金森综合征的神经生理学:一个研究组立场文件。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-12 DOI: 10.1002/mds.30225
Antonio Suppa,Francesco Asci,Nitish Kamble,Kai-Hsiang Chen,Giorgia Sciacca,Shabbir Hussain I Merchant,Marina A J Tijssen,Robert Chen,Mark Hallett,Pramod Kumar Pal
{"title":"Neurophysiology of Atypical Parkinsonian Syndromes: A Study Group Position Paper.","authors":"Antonio Suppa,Francesco Asci,Nitish Kamble,Kai-Hsiang Chen,Giorgia Sciacca,Shabbir Hussain I Merchant,Marina A J Tijssen,Robert Chen,Mark Hallett,Pramod Kumar Pal","doi":"10.1002/mds.30225","DOIUrl":"https://doi.org/10.1002/mds.30225","url":null,"abstract":"Atypical parkinsonian syndromes (APs) are characterized by parkinsonian features combined with additional motor and non-motor signs and symptoms. Neurophysiological studies have contributed to clarifying differences and similarities between APs and idiopathic Parkinson's disease (PD) and to unravel specific pathophysiological features of APs. A comprehensive and updated evaluation of the potential clinical utility of the available neurophysiological tools in APs is, however, currently needed. The Neurophysiology Study Group of the International Parkinson and Movement Disorder Society reviewed previously published neurophysiological studies including those based on electromyography, electroencephalography, and evoked potentials, transcranial magnetic stimulation and kinematics, in most relevant APs, including progressive supranuclear palsy, multiple system atrophy, corticobasal syndrome, Lewy body dementia, fronto-temporal dementia, vascular parkinsonism, normal pressure hydrocephalus, and drug-induced parkinsonism. Following a critical narrative review of all the available information for each AP, the study group examined the most relevant pathophysiological advances achieved in the field owing to the application of specific neurophysiological tools. Furthermore, the review includes statements regarding the potential role in a research context (ie, pathophysiological investigation) as well as in the clinical setting (ie, clinical utility) of each neurophysiological technique, through an estimation of the corresponding levels of evidence, based on the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. Finally, an example of a possible stepwise approach based on the sequential application of specific neurophysiological techniques for better supporting the clinical differential diagnosis of PD and APs is proposed. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"52 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945170","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
Genetics Influences Telomere Length in Parkinson's Disease: A Study in Monozygotic Discordant Twins 基因对帕金森病端粒长度的影响:单卵异卵双胞胎的研究
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-09 DOI: 10.1002/mds.30224
Letizia Straniero, Valeria Rimoldi, Emanuele Cereda, Giulia Soldà, Daniela Calandrella, Stefano Duga, Samanta Mazzetti, Graziella Cappelletti, Ioannis U. Isaias, Gianni Pezzoli, Rosanna Asselta
{"title":"Genetics Influences Telomere Length in Parkinson's Disease: A Study in Monozygotic Discordant Twins","authors":"Letizia Straniero, Valeria Rimoldi, Emanuele Cereda, Giulia Soldà, Daniela Calandrella, Stefano Duga, Samanta Mazzetti, Graziella Cappelletti, Ioannis U. Isaias, Gianni Pezzoli, Rosanna Asselta","doi":"10.1002/mds.30224","DOIUrl":"https://doi.org/10.1002/mds.30224","url":null,"abstract":"BackgroundParkinson's disease (PD) results from complex interactions among environmental, genetic, and aging factors. Telomeres, which ensure chromosome stability, naturally shorten with cell division, contributing to aging and cellular senescence. However, studies investigating telomere length (TL) in PD have produced inconsistent results.ObjectiveThis study aims to explore the relationship between TL and PD using a unique PD‐discordant monozygotic twin design, which minimizes confounding factors such as age, gender, and genetic background. We also examined the impact of PD‐related genetic mutations on TL.MethodsWe analyzed relative telomere length (RTL) in blood samples from 29 pairs of monozygotic twins discordant for PD. Data was stratified by disease duration, and we investigated the influence of genetic variants (<jats:italic>GBA1</jats:italic> and <jats:italic>LRRK2</jats:italic>) on RTL.ResultsNo significant difference in RTL was observed between PD‐affected twins and their healthy co‐twins overall. However, twins with longer disease duration (≥8 years) showed a significant decline in RTL (0.90 ± 0.18 vs. 1.07 ± 0.24; <jats:italic>P</jats:italic> = 0.046), which was more pronounced with a 10‐year disease duration cutoff (0.85 ± 0.18 vs. 1.06 ± 0.22; <jats:italic>P</jats:italic> = 0.015). <jats:italic>GBA1</jats:italic>‐mutated PD twins exhibited significantly longer RTL than non‐mutated twins, a result replicated in non‐twin <jats:italic>GBA1</jats:italic> carriers and extended to <jats:italic>LRRK2</jats:italic> carriers.ConclusionsOur findings suggest that aging and cellular senescence primarily drive sporadic PD, whereas genetic forms are linked to disruptions in cellular pathways, such as lysosomal or mitochondrial functions. These insights highlight the role of genetics in telomere dynamics 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":"7 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143930631","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
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders. 遗传性和获得性儿童小脑疾病的表型异质性。
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-06 DOI: 10.1002/mds.30210
Katariina Granath,Sanna Huhtaniska,Juulia Ellonen,Tytti Pokka,Salla M Kangas,Jukka Moilanen,Heli Helander,Hanna Kallankari,Jonna Komulainen-Ebrahim,Päivi Vieira,Elisa Rahikkala,Renzo Guerrini,Minna Honkila,Terhi S Ruuska,Reetta Hinttala,Maria Suo-Palosaari,Jussi-Pekka Tolonen,Johanna Uusimaa
{"title":"Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.","authors":"Katariina Granath,Sanna Huhtaniska,Juulia Ellonen,Tytti Pokka,Salla M Kangas,Jukka Moilanen,Heli Helander,Hanna Kallankari,Jonna Komulainen-Ebrahim,Päivi Vieira,Elisa Rahikkala,Renzo Guerrini,Minna Honkila,Terhi S Ruuska,Reetta Hinttala,Maria Suo-Palosaari,Jussi-Pekka Tolonen,Johanna Uusimaa","doi":"10.1002/mds.30210","DOIUrl":"https://doi.org/10.1002/mds.30210","url":null,"abstract":"BACKGROUNDThe genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined.OBJECTIVESThe objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.METHODSA longitudinal population-based cohort study of children with a movement disorder or a cerebellar malformation (diagnosis ≤16 years; study period 1970-2022) was performed in the tertiary catchment area of the Oulu University Hospital, Finland. The genotype-to-phenotype associations were compared with 1007 published cases with matching monogenic etiologies.RESULTSA total of 107 patients were included (cumulative incidence 21.9 per 100,000 live births). A defined genetic or non-genetic etiology was identified for 59 patients. These etiologies were monogenic (66%), chromosomal (12%), or non-genetic (22%). Ataxia was the most common movement disorder. Friedreich's ataxia was uncommon, whereas ataxias belonging to the Finnish Disease Heritage were overrepresented. Forty-eight cases remained undefined. The diagnostic yield (ie, pathogenic or likely pathogenic variants) of next-generation sequencing (NGS) in ataxia was 65%. Common features were ataxia, developmental delay, seizures, hypotonia, and abnormality in brain MRI, whereas hearing loss, sensory neuropathy, and microcephalia were associated with fewer etiologies.CONCLUSIONSPCDs are a heterogeneous disease group with a high proportion of genetic etiologies. Age of onset and certain clinical findings may help distinguish between different disease entities. The diagnostic yield of NGS has increased over time. Our dataset will support clinicians to recognize PCDs, their co-morbidities, and genetic etiologies. Further data on epidemiology, shared disease mechanisms, and the natural history of PCDs will be critical for the development of treatment approaches. © 2025 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"2020 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143914870","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
Professor Tipu Aziz (1956–2024)
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-06 DOI: 10.1002/mds.30201
Alan Crossman, Timmy Aziz, John Stein
{"title":"Professor Tipu Aziz (1956–2024)","authors":"Alan Crossman, Timmy Aziz, John Stein","doi":"10.1002/mds.30201","DOIUrl":"https://doi.org/10.1002/mds.30201","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"73 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143915264","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
Definition and Classification of Dystonia 肌张力障碍的定义和分类
IF 8.6 1区 医学
Movement Disorders Pub Date : 2025-05-06 DOI: 10.1002/mds.30220
Alberto Albanese, Kailash P. Bhatia, Victor S.C. Fung, Mark Hallett, Joseph Jankovic, Christine Klein, Joachim K. Krauss, Anthony E. Lang, Jonathan W. Mink, Sanjay Pandey, Jan K. Teller, Marina A.J. Tijssen, Marie Vidailhet, H.A. Jinnah
{"title":"Definition and Classification of Dystonia","authors":"Alberto Albanese, Kailash P. Bhatia, Victor S.C. Fung, Mark Hallett, Joseph Jankovic, Christine Klein, Joachim K. Krauss, Anthony E. Lang, Jonathan W. Mink, Sanjay Pandey, Jan K. Teller, Marina A.J. Tijssen, Marie Vidailhet, H.A. Jinnah","doi":"10.1002/mds.30220","DOIUrl":"https://doi.org/10.1002/mds.30220","url":null,"abstract":"Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its application during the last decade. A panel of movement disorder specialists with expertise in dystonia reviewed the original document and proposed some revision. There was broad consensus to retain the definition of dystonia with only minor clarifications to the wording. Dystonia is defined as a movement disorder characterized by sustained or intermittent abnormal movements, postures, or both. Dystonic movements and postures are typically patterned and repetitive and may be tremulous or jerky. They are often initiated or worsened by voluntary action and frequently associated with overflow movements. The two‐axis structure for classification of the many different presentations of dystonia was also retained, with some revision. Axis I summarizes key clinical characteristics of dystonia, including age at onset, family history, body distribution, temporal dimensions, phenomenology, and whether dystonia is isolated or combined with other neurological or medical problems. Axis II organizes information regarding its etiological basis, including genetic, acquired, and anatomical, and common disease mechanisms. This consensus provides an update to the original definition and classification of dystonia with the aim of facilitating its clinical recognition and management. The revision retains the essence of the original proposal and aims particularly to provide a structure facilitating a uniform implementation. © 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":"20 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143915265","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}
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