Journal of Neurology最新文献

{"title":"Anti-GFAP associated opsoclonus-myoclonus-ataxia syndrome in a patient with multiple autoimmune comorbidities-a case report.","authors":"Nina Vindegaard Sørensen, Anna Christine Nilsson, Al-Hasan Hussein Dos, Christian Midtgaard Stenør","doi":"10.1007/s00415-025-12999-0","DOIUrl":"https://doi.org/10.1007/s00415-025-12999-0","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"263"},"PeriodicalIF":4.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615764","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":"Pseudobulbar affect: clinical associations, social impact and quality of life implications - Lessons from PLS.","authors":"Eoin Finegan, Jana Kleinerova, Orla Hardiman, Siobhan Hutchinson, Angela Garcia-Gallardo, Ee Ling Tan, Peter Bede","doi":"10.1007/s00415-025-12971-y","DOIUrl":"10.1007/s00415-025-12971-y","url":null,"abstract":"<p><strong>Background: </strong>Pseudobulbar affect (PBA) is a well-recognised and troublesome clinical phenomenon in a range of neuroinflammatory, neoplastic, neurovascular and neurodegenerative conditions. It is often under-recognised in the community, frequently mistaken for psychiatric manifestations, appropriate pharmacological treatment is often delayed, and may result in a sense of embarrassment or lead to social isolation. Despite its considerable quality of life (QoL) implications and the challenges associated with its effective management, it is notoriously understudied.</p><p><strong>Methods: </strong>As the incidence of PBA is lower in non-motor neuron disease patient cohorts, and the social and QoL impact of PBA is not sufficiently recognised, a purpose-designed study was conducted in a Primary Lateral Sclerosis (PLS) cohort to assess the clinical correlates and social impact of PBA.</p><p><strong>Results: </strong>PBA was very strongly associated with pseudo-bulbar motor dysfunction. Dysphagia (OR 14, P = .005) and the presence of abnormal jaw jerk (OR 19.8, P < 0.001) greatly increased odds of PBA. There was no significant difference in the cognitive or behavioural profiles between those with PBA and those without it. Poorly controlled laughing (85%) was more prevalent than crying (69%) among PLS patients with PBA. No individual experienced PBA symptoms prior to the motor manifestations of PLS. Most patients were unaware that PBA was common in their neurological condition. The mean PBA Impact score was 5 (range 1-17) and correlated with CNS-LS crying subscores (r = .693, p = .006).</p><p><strong>Discussion: </strong>The severity of pseudobulbar affect correlates with motor manifestations of pseudobulbar palsy, a link supporting emerging imaging studies regarding bilateral corticobulbar tract degeneration as in important aetiological factor. The social and quality of life ramifications of pseudobulbar affect can be readily demonstrated by purpose-designed questionnaires.</p><p><strong>Conclusions: </strong>Despite sporadic reports, the clinical, social, caregiver burden and quality of life implications of pseudobulbar affect remain poorly characterised. The comprehensive evaluation of the clinical correlates of PBA helps to elucidate the underlying pathophysiology. Ultimately, the comprehensive assessment of both the aetiology and social impact of PBA helps to raise awareness of this entity, reduce misdiagnoses, enhance the early recognition of this phenomenon and encourage proactive pharmacological intervention.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"266"},"PeriodicalIF":4.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615565","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":"Heart rate variability biofeedback in patients with functional dizziness.","authors":"Erik Simon, Ana Isabel Penzlin, Martin Arndt, Timo Siepmann, Kristian Barlinn","doi":"10.1007/s00415-025-12988-3","DOIUrl":"10.1007/s00415-025-12988-3","url":null,"abstract":"<p><strong>Background: </strong>Functional dizziness is one of the most common causes of chronic dizziness. Associated psychiatric diseases such as depression and anxiety lead to significant impairment, possibly due to autonomic nervous system imbalance. We investigated whether heart rate variability (HRV) biofeedback can modulate autonomic function in patients with functional dizziness.</p><p><strong>Methods: </strong>We performed a randomized controlled study in 24 patients diagnosed functional dizziness for the first time. Patients received six 20 min sessions of HRV biofeedback or no intervention. We assessed HRV (time and frequency domains), sympathetic vasomotor function, sympathetic skin response and psychometric assessments at baseline, immediately post-intervention (or control period) and another 3 and 6 weeks later.</p><p><strong>Results: </strong>Patients in the HRV biofeedback group showed improved cardiac autonomic function with elevated HRV time-dependent parameters immediately post-intervention [Root Mean Square of Successive Differences (RMSSD): 71.2 ms ± 38 ms vs. 38.2 ms ± 18.5 ms, p = 0.014; Standard Deviation of all NN Intervals (SDNN): 78.3 ms ± 35.9 ms vs. 48.1 ms ± 20.5 ms, p = 0.001], increased HRV frequency-dependent parameter [Low Frequency (LF): p = 0.001], as well as reduced depressiveness (BDI-II: p = 0.0236). None of these parameters were changed in control patients (p = ns). Dizziness-associated symptoms and sympathetic function of vasculature and sweat glands were unaltered in both study arms.</p><p><strong>Conclusion: </strong>In a randomized controlled pilot study, HRV biofeedback led to improved autonomic cardiac function and alleviated symptoms of depression in patients with functional dizziness, most likely mediated by a predominantly parasympathetic effect.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"265"},"PeriodicalIF":4.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615419","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":"The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.","authors":"Ali Hasan, Gabriel Vasata Furtado, Elaine Miglorini, Rafaella Mergener, Breno Massuyama, Orlando Barsottini, José Luiz Pedroso, Helio G Teive, Maria Luiza Saraiva-Pereira, Tetsuo Ashizawa, Laura Bannach Jardim","doi":"10.1007/s00415-025-13003-5","DOIUrl":"https://doi.org/10.1007/s00415-025-13003-5","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint-) of interruptions in the repeat is not clear. We aimed to describe the relations between ATTCTint + and age at onset, seizures, and neurologic severity in ataxic and non-ataxic carriers from Brazil.</p><p><strong>Methods: </strong>Family, age at onset (AO), and seizures data plus DNA were obtained from symptomatic carriers already diagnosed in Porto Alegre, Curitiba, and São Paulo, Brazil. Patients and their relatives were invited to be evaluated through Scale of Assessment and Rating of Ataxia (SARA) and other clinical scales; a SARA > 2.5 classified subjects as ataxic carriers. Repeat-primed PCR (RP-PCR) defined the expansions with (ATTCTint +) or without (ATTCTint-) interruptions. Comparisons were performed for a p level of 0.05.</p><p><strong>Results: </strong>Among 78 ataxic carriers, earlier AO (p = 0.039) and higher occurrences of epilepsy (p < 0.0001) were seen in subjects with ATTCTint + than in those with ATTCTint-. Clinical scales were worse in 34 ataxics than in 7 non-ataxics and 10 related controls (p = 0.006) and did not discriminate non-ataxics from controls. The 11 ataxic ATTCTint + carriers had higher SARA scores per year of disease duration than the 23 ATTCTint- carriers (r = 0.879, beta = 0.45, p = 0.0001).</p><p><strong>Discussion: </strong>ATTCTint + carriers had worse clinical findings than ATTCTint- carriers: earlier AO, more seizures, and worse ataxia scores. Interruptions in the expanded repeat have a real impact in SCA10 phenotype.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"261"},"PeriodicalIF":4.8,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604903","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":"Otto Marburg (1874-1948).","authors":"Andrew J Larner, Lazaros C Triarhou","doi":"10.1007/s00415-025-13004-4","DOIUrl":"https://doi.org/10.1007/s00415-025-13004-4","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"260"},"PeriodicalIF":4.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597184","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":"Presence and origin of variability of the pull test and push-and-release test in people with Parkinson's disease.","authors":"Jamie A F Jansen, Bastiaan R Bloem, Noël Keijsers, Jorik Nonnekes, Vivian Weerdesteyn","doi":"10.1007/s00415-025-12974-9","DOIUrl":"10.1007/s00415-025-12974-9","url":null,"abstract":"<p><strong>Background: </strong>The pull test and the push-and-release test evaluate postural instability in Parkinson's disease (PD). We systematically evaluated the impact of within- and between-assessor variability in test delivery by the clinician on the test outcome. We also evaluated whether using standardized treadmill-based mechanical perturbations may enhance the consistency of the patient's test outcomes.</p><p><strong>Methods: </strong>Fifty persons with PD underwent a series of backward balance perturbations: three repetitions of both the pull test and the push-and-release test delivered by three different assessors (i.e., nine repetitions of each test), plus five standardized treadmill-induced perturbations at 1.5 m/s², in pseudo-random order.</p><p><strong>Results: </strong>We found substantial within-assessor variability on both manual tests. A difference in scores of 2 points or more was found in 30% of participants for the pull tests, and in 42% for the push-and-release tests. Similarly, large variability in scores was observed between assessors. Inconsistent test delivery was demonstrated by a wide range of sternum and center of mass displacements following the pull test and body inclination angles in the push-and-release test. Across five repeated treadmill-based perturbations at 1.5 m/s², ≥ 2 points difference in test outcomes was found in 18% of participants, with significantly greater consistency in sternum and center of mass displacements.</p><p><strong>Conclusions: </strong>Variability in the patient's balance test scores can be attributed to substantial variability in test delivery, as well as inconsistent performance of the individual patient. Assessment of postural instability may benefit from standardizing test delivery, e.g., using treadmill-induced perturbations.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"258"},"PeriodicalIF":4.8,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11890374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582314","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":"Correction: Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.","authors":"Maximilian Wiesenfarth, Yalda Forouhideh-Wiesenfarth, Zeynep Elmas, Özlem Parlak, Ulrike Weiland, Christine Herrmann, Joachim Schuster, Axel Freischmidt, Kathrin Müller, Reiner Siebert, Kornelia Günther, Elke Fröhlich, Antje Knehr, Tatiana Simak, Franziska Bachhuber, Martin Regensburger, Susanne Petri, Thomas Klopstock, Peter Reilich, Florian Schöberl, Peggy Schumann, Peter Körtvélyessy, Thomas Meyer, Wolfgang P Ruf, Simon Witzel, Hayrettin Tumani, David Brenner, Johannes Dorst, Albert C Ludolph","doi":"10.1007/s00415-025-12952-1","DOIUrl":"10.1007/s00415-025-12952-1","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"259"},"PeriodicalIF":4.8,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11890349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582302","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":"A dose-response meta-analysis of physical activity and the risk of alzheimer's disease in prospective studies.","authors":"Yanjie Jiang, Zhihui Jin, Hanyu Wang, Xingyi He, Rui Fu, Xinglang Yu, Qinwei Fu, Jing Tian, Wenshan Li, Xiaoyu Zhu, Shipeng Zhang, Yan Lu","doi":"10.1007/s00415-025-12960-1","DOIUrl":"https://doi.org/10.1007/s00415-025-12960-1","url":null,"abstract":"<p><strong>Background: </strong>Alzheimer's disease (AD) has become an increasing global health challenge, particularly with the accelerated aging of the population. Therefore, preventive research targeting AD has become especially important. In recent years, physical activity (PA), as a potential non-pharmacological intervention, has garnered increasing attention from researchers. The aim of this study was to evaluate the effect of PA on AD risk through systematic review and meta-analysis and to further explore its potential preventive benefits.</p><p><strong>Methods: </strong>The literature search for this study encompassed PubMed, Embase, Web of Science, and the Cochrane Library databases, covering publications from their inception until November 1, 2024. Only English-language publications were included. Stratified analyses were conducted to explore the relationship between PA and AD risk by combining multivariate-adjusted effect estimates using random-effects models, along with subgroup analyses, sensitivity analyses, multifactorial meta-regression, and dose-response analyses to comprehensively assess the association between PA and the risk of AD.</p><p><strong>Results: </strong>Ultimately, 29 studies were included in the primary analysis, along with 3 additional studies for supplemental analyses, involving 1,453,561 participants, of whom 68,497 were diagnosed with AD. The results indicated that high-intensity PA significantly reduced the risk of AD by 26% (Hazard ratio [HR] = 0.74, 95% CI 0.67-0.83). Additionally, dose-response analyses revealed both linear and nonlinear associations, with linear dose-response results indicating a 15% reduction in AD risk for every 10 MET-h/wk increase in PA. Subgroup analyses indicated that the protective effect of PA was more pronounced in the non-obese population (BMI < 25) (HR = 0.65, 95% CI, 0.52-0.82), in individuals aged 75 years or older (HR = 0.57, 95% CI 0.48-0.67), and in non-APOE ε4 gene carriers (HR = 0.72, 95% CI 0.55-0.93), who exhibited greater protection. To explore the sources of heterogeneity among the included studies, a multifactorial meta-regression analysis was performed, which did not significantly explain the heterogeneity of the primary outcomes. Moreover, the robustness of the pooled results was confirmed through supplemental meta-analysis, subgroup analysis, and sensitivity analysis.</p><p><strong>Conclusions: </strong>The results of this study support the potential of PA in reducing the risk of AD, particularly in non-obese populations, older age groups, and non-APOE ε4 gene carriers. PA holds significant potential in public health as a feasible and low-cost non-pharmacological intervention strategy.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"256"},"PeriodicalIF":4.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573285","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":"Gait changes with aging: an early warning sign for underlying pathology.","authors":"Jorik Nonnekes, Erik Post, Gabriele Imbalzano, Bastiaan R Bloem","doi":"10.1007/s00415-025-12995-4","DOIUrl":"10.1007/s00415-025-12995-4","url":null,"abstract":"<p><p>Walking may appear to be a simple motor task, but is in fact a very complex behavior that involves virtually all levels of the nervous system. In daily clinical practice, subtle gait changes are commonly observed as we grow older, and these are often attributed to aging itself (the term \"senile gait\" was coined for this). However, growing evidence suggests that such age-related gait changes should not be regarded as a mere consequence of aging, but rather as indicators of underlying age-related disease. Numerous studies have shown that gait changes can be present for years during an otherwise prodromal phase of many progressive neurological disorders. As such, gait changes serve as clinical biomarkers of disease-related dysfunction in the neurological structures involved in gait control. We elaborate on the potential for gait to be exploited as an early warning system for underlying pathology. We also discuss the importance of such a proactive approach: an earlier diagnosis can lead to timely installment of symptomatic support, and sometimes start of prophylactic treatment. This can help reduce disability, and possibly increase survival because age-related gait disturbances are associated with increased mortality in the general population.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"257"},"PeriodicalIF":4.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573287","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":"Tau levels in platelets isolated from Huntington's disease patients serve as a biomarker of disease severity.","authors":"Melanie Alpaugh, Juan Lantero-Rodriguez, Andrea L Benedet, Uriel Manseau, Martine Boutin, Massimo Maiuri, Helena L Denis, Maria Masnata, Shaline V Fazal, Sylvain Chouinard, Pedro Rosa-Neto, Roger A Barker, Kaj Blennow, Henrik Zetterberg, Richard Labib, Francesca Cicchetti","doi":"10.1007/s00415-025-12966-9","DOIUrl":"10.1007/s00415-025-12966-9","url":null,"abstract":"<p><p>Tau is a microtubule protein that is known to be hyperphosphorylated and to aggregate in several chronic neurodegenerative disorders. In many cases, in particular in Alzheimer's disease, the degree of tau pathology has been demonstrated to correlate with cognitive deficits and/or decline. In Huntington's disease (HD), a dominantly inherited neurodegenerative disorder, both cognitive impairments and abnormal tau expression have been reported to occur, along with the accumulation of the mutant huntingtin protein. In this respect, tau has been shown to be present in the cerebrospinal fluid of individuals with HD and to increase with disease progression. However, how this relates to changes in tau found in the periphery is largely unknown. In this study, we collected blood samples from patients with HD and isolated multiple blood components including plasma, platelets, and peripheral blood mononuclear cells to measure their tau levels and subsequently correlate these to cognitive impairments and disease stage. Our results suggest that the amount of tau, particularly N-terminal tau (NTA-tau) and total tau (t-tau), is elevated in all assayed blood components and that the quantity of tau within platelets, specifically, is strongly correlated with disease severity.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 3","pages":"254"},"PeriodicalIF":4.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567278","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}