Journal of Neurology最新文献

{"title":"Conversion into short-arm canalithiasis as a cause of residual dizziness after repositioning maneuvers for BPPV.","authors":"Hyun-Jae Kim, Young-Eun Gil, Ji-Soo Kim","doi":"10.1007/s00415-025-13031-1","DOIUrl":"https://doi.org/10.1007/s00415-025-13031-1","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"284"},"PeriodicalIF":4.8,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dyspnea and dystussia in Parkinson's disease: patient-reported prevalence and determinants.","authors":"Veerle A van de Wetering-van Dongen, Maarten J Nijkrake, Philip J van der Wees, Joanna IntHout, S K L Darweesh, Bastiaan R Bloem, Johanna G Kalf","doi":"10.1007/s00415-025-13008-0","DOIUrl":"10.1007/s00415-025-13008-0","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of respiratory dysfunction in PD is unknown and a better understanding of determinants contributing to respiratory dysfunction is important to facilitate early recognition and treatment.</p><p><strong>Objective: </strong>To examine the prevalence and determinants of self-reported symptoms of respiratory dysfunction among people with PD.</p><p><strong>Methods: </strong>In a cross-sectional study, we administered a self-completed questionnaire among a sample of 939 persons with PD. Respiratory dysfunction was defined as experiencing at least one of the following symptoms: breathing difficulties, breathlessness/shortness of breath, tightening of the chest, frequent throat clearing, frequent coughing, or coughing difficulties. A principal component analysis (PCA) was used to define composite constructs of respiratory dysfunction. The association with participant-reported determinants was assessed using multivariable logistic regression models (with adjustment for pulmonary diseases and COVID-19 symptoms).</p><p><strong>Results: </strong>The overall prevalence rate of respiratory dysfunction was 44% in persons with PD (42% after excluding pulmonary diseases or COVID-19). The PCA resulted in two constructs of respiratory dysfunction: 'dyspnea' and 'dystussia' (an impaired cough response), which together explained 68% of the total variance. Female sex (OR = 1.39), higher BMI kg/m² (OR = 1.04), longer disease duration (OR = 1.35), greater self-reported rigidity (OR = 1.16), previous pulmonary disease(s) (OR = 7.12), and anxiety (OR = 1.04) were independently associated with 'dyspnea'. Pulmonary disease(s) (OR = 1.81), COVID-19 symptoms (OR = 2.20), swallowing complaints (OR = 1.48), and speech complaints (OR = 1.02) were independently associated with 'dystussia'.</p><p><strong>Conclusions: </strong>Dyspnea and dystussia are common manifestations of respiratory dysfunction among people with PD and deserves more awareness in clinical practice. A proactive screening for the determinants of dyspnea and dystussia may contribute to earlier recognition and treatment of respiratory dysfunction.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"283"},"PeriodicalIF":4.8,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11929639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased functional connectivity of motor regions and dorsolateral prefrontal cortex in musicians with focal hand dystonia.","authors":"Stine Alpheis, Christopher Sinke, Julian Burek, Tillmann H C Krüger, Eckart Altenmüller, Daniel S Scholz","doi":"10.1007/s00415-025-13018-y","DOIUrl":"10.1007/s00415-025-13018-y","url":null,"abstract":"<p><strong>Background: </strong>Musician's dystonia is the most common form of focal task-specific dystonia and is suggested to be the result of dysfunctional communication among sensory-motor networks. Thus far, few functional connectivity studies have investigated musician's dystonia specifically, leaving its exact pathophysiological mechanisms unclear. The goal of this study was to verify connectivity findings from other task-specific dystonias on a large sample of musician's hand dystonia patients and to analyze associations with possible adverse childhood experiences, a suggested risk factor for dystonia.</p><p><strong>Methods: </strong>Forty professional musicians suffering from musician's hand dystonia and a matched control group of healthy musicians underwent resting-state functional magnetic resonance imaging and answered the childhood trauma questionnaire. Using a seed-to-whole brain approach, functional connectivity alterations between motor cortices, the prefrontal cortex, the basal ganglia and the thalamus were analyzed.</p><p><strong>Results: </strong>Musician's dystonia patients showed increased functional connectivity of the dorsolateral prefrontal cortex with the putamen and the pallidum, especially in right-side affected patients. Patients further displayed increased connectivity of the left thalamus and the right lateral premotor cortex. No associations between functional connectivity, duration of disorder and childhood adversity were observed.</p><p><strong>Conclusion: </strong>The findings are consistent with previous research, highlighting the pathophysiological importance of the basal ganglia. Altered resting-state functional connectivity may reflect underlying neuroplastic changes in musicians with dystonia that lead to an altered flow of information, disrupting movement inhibition. Involvement of the dorsolateral prefrontal and premotor cortices further suggests that motor disturbances occur in the early planning phase of a movement. The findings indicate that a holistic re-training approach with and without the instrument could be beneficial for regaining motor control.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"281"},"PeriodicalIF":4.8,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11929630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune cerebellar ataxia with Kelch-like protein 11 antibodies in a large cohort study.","authors":"Shintaro Fujii, Hiroaki Yaguchi, Akihiko Kudo, Katsuki Eguchi, Taichi Nomura, Yukihiro Hamada, Atsuki Hirai, Yuta Fukumoto, Yuko Yamagishi, Makoto Yoneda, Keiko Tanaka, Akio Kimura, Kazufumi Tsuzaka, Yoshitaka Nagai, Ichiro Yabe","doi":"10.1007/s00415-025-13033-z","DOIUrl":"https://doi.org/10.1007/s00415-025-13033-z","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"282"},"PeriodicalIF":4.8,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China.","authors":"Chaolong Xu, Sisi Dai, Huafang Jiang, Zhimei Liu, Yunxi Zhang, Tianyu Song, Ying Zou, Xin Duan, Yang Liu, Minhan Song, Zixuan Zhang, Tongyue Li, Fang Fang","doi":"10.1007/s00415-025-13009-z","DOIUrl":"https://doi.org/10.1007/s00415-025-13009-z","url":null,"abstract":"<p><strong>Objective: </strong>The aim was to summarise the clinical characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), evaluate patient survival status, and identify prognostic factors.</p><p><strong>Methods: </strong>This retrospective study enrolled 150 children with MELAS from 07/2004 to 07/2023. The patients were followed up for a median of 3.37 years (IQR: 2.07-6.16 years). Disease burden was assessed using the Newcastle Pediatric Mitochondrial Disease Scale (NPMDS), and Spearman's correlation coefficient was used to analyse factors affecting disease severity. The Kaplan-Meier and Cox proportional methods were used for survival analysis.</p><p><strong>Results: </strong>Overall, 150 patients (73 male) were enrolled, of whom 118 were followed up and 22 died. The mean age at onset was 8.2 years (0.4-15.3), and stroke-like episodes were the most common initial symptoms (54%). Among the surviving patients, 78 completed the NPMDS (mean score: 23.6 ± 6.7 points), and 71.8% (56/78) had moderate-to-severe disease (NPMDS score ≥ 15 points). The NPMDS score was positively correlated with disease duration (r = 0.41, P < 0.001) and negatively correlated with age at onset (r =  -0.26, P < 0.01). Among 48 patients who received long-term oral L-arginine and anti-seizure medications (ASMs), 56.3% (27/48) experienced reductions in seizures and stroke-like episodes. The 10- and 15-year survival rates were 65.3% and 34.5%, respectively. Muscle weakness was an independent risk factor for death (HR = 4.83, 95% CI 1.32-17.68; P = 0.017).</p><p><strong>Conclusions: </strong>This study had the largest cohort and longest follow-up of pediatric MELAS. Early onset was associated with severe disease, while muscle weakness was associated with a worse prognosis. Early identification and effective management of stroke-like episodes and seizures are crucial to reduce the disease burden.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"280"},"PeriodicalIF":4.8,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Behavioural and cognitive profiles in frontotemporal dementia and Alzheimer's disease: a longitudinal study.","authors":"Xin Zhang, Muireann Irish, Olivier Piguet, Rebekah M Ahmed","doi":"10.1007/s00415-025-13025-z","DOIUrl":"10.1007/s00415-025-13025-z","url":null,"abstract":"<p><strong>Introduction: </strong>Longitudinal comparative characterisation of dementia syndromes may aid differential diagnosis, prognostication and intervention implementation.</p><p><strong>Methods: </strong>We compared the behavioural and cognitive characteristics of 84 behavioural variant frontotemporal dementia (bvFTD), 29 left and 14 right-dominant semantic dementia (SDL and SDR) and 49 Alzheimer's disease (AD) patients over a follow-up period of 2.4 ± 1.6 years using the Cambridge Behavioural Inventory Revised (CBI-R) and Addenbrooke's Cognitive Examination third edition (ACE-III).</p><p><strong>Results: </strong>Linear mixed modelling of time effects found progression of all CBI-R domains, aside from sleep, beliefs and mood domains, and all ACE-III domains. Modelling of group effects found that bvFTD had greater symptoms than AD in most CBI-R domains. Notably, SDL and SDR compared differently with AD and bvFTD; whilst SDR did not differ significantly from bvFTD in any CBI-R domain, SDL had less severe symptoms than bvFTD in everyday skills, motivation, sleep and eating habits; whilst SDL had greater disturbances in abnormal behaviour and stereotypic behaviour than AD, SDR had greater disturbances in addition in motivation and eating habits. Motivation, eating habits, abnormal behaviour and stereotypic behaviour were the most frequently different behavioural domains between groups.</p><p><strong>Conclusion: </strong>We have shown that the combined, longitudinal use of existing behavioural and cognitive assessments could capture distinct clinical profiles of common and rare dementia syndromes. Our findings also highlight the importance of select behavioural domains such as motivation and the usefulness of separate clinical characterisations of SDL and SDR.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"279"},"PeriodicalIF":4.8,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Karl Lowy (1904-1978).","authors":"Lazaros C Triarhou","doi":"10.1007/s00415-025-13016-0","DOIUrl":"https://doi.org/10.1007/s00415-025-13016-0","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"278"},"PeriodicalIF":4.8,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gray matter structural and functional brain abnormalities in Parkinson's disease: a meta-analysis of VBM and ALFF data.","authors":"Lu Wang, Xin Xiong, Junqi Liu, Ruishan Liu, Juan Liao, Fan Li, Shangxiong Lu, Weiwei Wang, Lihua Zhuo, Hongwei Li","doi":"10.1007/s00415-025-12934-3","DOIUrl":"https://doi.org/10.1007/s00415-025-12934-3","url":null,"abstract":"<p><strong>Background: </strong>Previous studies based on resting-state functional imaging and voxel-based morphometry (VBM) have revealed structural and functional alterations in several brain regions in patients with Parkinson's disease (PD), but their results have been inconsistent. Furthermore, no studies have investigated specific and common functional and structural alterations in PD.</p><p><strong>Methods: </strong>The whole-brain voxel-wise meta-analyses on the VBM and amplitude of low-frequency fluctuation (ALFF) studies were conducted using the Seed-based d Mapping with Permutation of Subject Images (SDM-PSI) software, respectively, with multimodal overlapping to comprehensively identify the gray matter volume (GMV) and spontaneous functional activity changes in patients with PD.</p><p><strong>Results: </strong>A total of 30 independent studies for ALFF (1413 PD and 1424 HCs) and 27 independent studies for VBM (1236 PD and 1185 HCs) were included. Compared with HCs, patients with PD displayed significantly decreased spontaneous functional activity in the left striatum. For the VBM meta-analysis, patients with PD showed significantly decreased GMV in the right temporal pole: superior temporal gyrus (extending to the right hippocampus, parahippocampal gyrus, and amygdala), the left superior temporal gyrus (extending to the left insula, and temporal pole: superior temporal gyrus), and the left striatum. Furthermore, after overlapping functional and structural differences, patients with PD displayed a conjoint decrease of spontaneous functional activity and GMV in the left striatum.</p><p><strong>Conclusion: </strong>The multimodal meta-analysis revealed that PD showed similar pattern of aberrant brain functional activity and structure in the striatum. In addition, some brain regions within the within the temporal lobe and limbic system displayed only structural deficits. These findings provide useful insights for understanding the underlying pathophysiology of PD.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"276"},"PeriodicalIF":4.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aprosopsia: a novel metamorphopsia variant occurring in Parkinson's disease psychosis.","authors":"Anish Bandalore Satheesha Reddy, Sara Pisani, Sajini Kuruppu, Sagnik Bhattacharyya, Dominic H Ffytche, Latha Velayudhan","doi":"10.1007/s00415-025-13015-1","DOIUrl":"https://doi.org/10.1007/s00415-025-13015-1","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"277"},"PeriodicalIF":4.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Flexible exoskeleton-assisted training enhances lower limb motor function after stroke: a systematic review and meta-analysis.","authors":"Jiawei Liu, Kai Liu, Xuanxuan Ge, Ping Zhou, Tianzhe Bao, Weijun Gong","doi":"10.1007/s00415-025-12998-1","DOIUrl":"https://doi.org/10.1007/s00415-025-12998-1","url":null,"abstract":"<p><strong>Background: </strong>Recent advances in flexible exoskeleton technology have broadened its application in stroke rehabilitation, particularly for improving motor functions in the affected lower limb. This review examines the impact of flexible exoskeleton-assisted training (FEAT) compared to conventional therapy on balance, motor functions, and gait parameters in post-stroke patients.</p><p><strong>Methods: </strong>We conducted a meta-analysis using data from randomized controlled trials (RCTs) identified through database searches and manual screening, focusing on outcomes such as balance (Berg Balance Scale, BBS), lower limb motor functions (Ten-Meter Walk Test, 10MWT; Six-Minute Walk Test, 6MWT; Functional Ambulation Category, FAC), and gait parameters (walking speed, step length, cadence, and symmetry).</p><p><strong>Results: </strong>This meta-analysis included 6 studies with 213 patients. FEAT significantly enhanced BBS scores, and performances on the 10MWT and 6MWT, along with other gait parameters; however, FAC scores did not improve significantly. Subgroup analyses revealed that FEAT with hip assistance significantly improved step length, cadence, and gait symmetry ratio, while ankle assistance improved performance on the 10MWT and 6MWT. FEAT was especially effective in improving step length, cadence, and gait symmetry ratio in patients with a post-stroke duration exceeding three months.</p><p><strong>Conclusion: </strong>Compared to the conventional therapy, FEAT markedly improves the balance, walking ability, and gait parameters in stroke rehabilitation. These findings support the value of FEAT in lower extremity rehabilitation post-stroke, suggesting its integration into clinical programs could enhance the therapy effectiveness or efficiency. In addition, the appropriate type of FEAT needs to be selected in the rehabilitation program based on the patient's specific impairment. For example, FEAT with hip assistance may be recommended for stroke patients with severe gait asymmetry, aiding the development of personalized interventions.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"274"},"PeriodicalIF":4.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}