Journal of Neurology最新文献

{"title":"A meta-analysis of survival and prognostic factors in multiple system atrophy.","authors":"Xiao Dong, Daji Chen, Linlin Wan, Linliu Peng, Zhao Chen, Riwei Ouyang, Xiafei Long, Kefang Du, Xiaokang Wu, Xinying Xiao, Ruqing He, Rong Qiu, Beisha Tang, Hong Jiang","doi":"10.1007/s00415-025-13204-y","DOIUrl":"10.1007/s00415-025-13204-y","url":null,"abstract":"<p><strong>Background: </strong>Multiple-system atrophy is a rapidly progressive neurodegenerative disease with incomplete survival data, limiting the understanding of long-term outcomes. This study aimed to investigate a comprehensive data including survival time and prognostic factors.</p><p><strong>Methods: </strong>Individual patient data were pooled from studies reporting Kaplan-Meier curves, and then, survival curves were generated. The pooled median survival times were derived using weighted median of medians approach and hazard ratios of risk factors were analyzed using either fixed- or random-effects model.</p><p><strong>Results: </strong>37 studies involving 6145 patients were included. The median survival time for MSA patients was 8.23 years (95% CI 8.02-8.56) based on reconstructed individual patient data. The pooled weighted median time was 8.0 years (95% CI 7.51-9.0). The following variables were found as unfavorable prognostic factors (hazard ratio with 95% CI are shown): age at onset (1.02, 1.01-1.03), poor levodopa response (1.55, 1.14-2.11), parkinsonism onset (1.30, 1.05-1.62), falls (1.84, 1.4-2.4), dysautonomia onset (1.48, 1.16-1.9), autonomic failure (2.52, 1.42-4.48), orthostatism hypotension (1.39, 1.16-1.66), bladder catheterization (1.81, 1.41-2.31), and stridor (1.5, 1.12-2.02).</p><p><strong>Conclusion: </strong>Survival time in MSA was evaluated using multiple methodological approaches, revealing a median survival of 8.0 years, and clinical variables like early autonomic failure and frequently falls were identified as predictors of poor survival outcomes.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"467"},"PeriodicalIF":4.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326078","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":"Hypothalamic atrophy in CANVAS/RFC1.","authors":"Verena Miranda Souza, Camila Caroso Lobo, Thiago Junqueira Ribeiro Rezende, Gabriel Silva Schmitt, Paula Camila Alves de Assis Pereira Matos, Fabrício Diniz de Lima, Alberto Rolim Muro Martinez, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Wilson Marques, Marcondes Cavalcante França","doi":"10.1007/s00415-025-13194-x","DOIUrl":"10.1007/s00415-025-13194-x","url":null,"abstract":"<p><strong>Background: </strong>Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late-onset multisystem disorder related to the RFC1 gene. Despite evidence of dysautonomia and sleep disturbances, hypothalamic involvement is unknown.</p><p><strong>Objective: </strong>We aimed to investigate hypothalamic volumetry in CANVAS/RFC1.</p><p><strong>Methods: </strong>We analyzed 19 CANVAS/RFC1 patients and 19 healthy controls using automated hypothalamic segmentation from 3 T-MRI scans. Volumetric comparisons were performed using ANCOVA, while correlations with Scale for the Assessment and Rating of Ataxia (SARA) and Scales for Outcomes in Parkinson's Disease-Autonomic questionnaire (SCOPA-AUT) scores were assessed by Pearson's correlation.</p><p><strong>Results: </strong>CANVAS/RFC1 group had a significantly lower total hypothalamic volume (RFC1: 734.84 ± 160.49 mm³ vs Controls: 878.83 ± 136.55 mm³; P = 0.03; d = 0.99) and a reduced left tuberal superior (LTS) volume (RFC1: 71.21 ± 21.85 mm³ vs Controls: 90.30 ± 15.67 mm³; P = 0.02; d = 0.99). LTS volume inversely correlated with SARA score (R = -0.51, P = 0.049), but no associations were found with SCOPA-AUT.</p><p><strong>Conclusion: </strong>This study reveals hypothalamic atrophy in CANVAS, suggesting its role in disease pathophysiology. Further research should investigate broader hypothalamic dysfunctions and clinical implications.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"465"},"PeriodicalIF":4.8,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317138","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":"\"How to save a marriage\": treatment of REM sleep behavior disorder (RBD) with acetyl-leucine in a patient with Parkinson's disease.","authors":"Wolfgang H Oertel, Martin T Henrich, Filip Bergquist, Annette Janzen, Fanni F Geibl, Michael Strupp","doi":"10.1007/s00415-025-13195-w","DOIUrl":"10.1007/s00415-025-13195-w","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"466"},"PeriodicalIF":4.8,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12174258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317137","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":"Clinical and therapeutic clues from a long-term follow-up: a single center experience on a large LOPD population.","authors":"Alessia Pugliese, Mattia Porcino, Selene Francesca Anna Drago, Giuseppe Trimarchi, Carmelo Rodolico, Olimpia Musumeci, Antonio Toscano","doi":"10.1007/s00415-025-13105-0","DOIUrl":"10.1007/s00415-025-13105-0","url":null,"abstract":"<p><p>Pompe disease is an inherited metabolic disorder, caused by acid alpha-glucosidase (GAA) enzyme deficiency. Late-onset form (LOPD) usually presents with proximal and axial myopathy, followed by progressive respiratory involvement. Since 2006, enzyme replacement therapy (ERT) has been the gold standard treatment. Recently, two ERTs of second generation have been approved. Several studies have demonstrated the benefits of the first generation ERT (FG-ERT), although outcomes are quite variable, and very long-term data are limited. In fact, functional long-term studies are still needed to clearly point out the prolonged efficacy of FG-ERT. We describe a cohort of 49 LOPD patients, providing a very long-term follow-up of motor and pulmonary function of 30 of them treated by FG-ERT (from 2 to 20 years), using 6MWT, FVC, and GSGC score to evaluate patients' responses. 6MWT remained quite stable in the first 4 years of therapy, followed by a slow decline of its value of about 21%. FVC showed an improving trend in the first 4 years, followed by a decline of about 12%. Along the follow-up, GSGC score worsened with an increasing of about 30% of the total score values. Although long-term results evidenced variable therapeutic responses, the general trend is an improvement in motor and respiratory functions during the first 2-4 years of treatment, followed by a variable degree of decline. According to these results, and in line with recent EPOC recommendations, it is strongly suggested to start therapy in symptomatic patients, but also to carefully manage presymptomatic patients to timely supply ERT treatment.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"464"},"PeriodicalIF":4.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144310056","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":"Is intravenous aciclovir overused in possible viral encephalitis? a retrospective review.","authors":"Anna Wakelin, Anthony Wolff, Heather Angus-Leppan","doi":"10.1007/s00415-025-13168-z","DOIUrl":"10.1007/s00415-025-13168-z","url":null,"abstract":"<p><strong>Introduction: </strong>Timely administration of IV aciclovir reduces mortality in herpes simplex virus (HSV) encephalitis (Sköldenberg in Lancet, 1984), (Whitley in N Engl J Med, 1986). Early diagnosis, however, is challenging due to non-specific symptoms and delays in obtaining key investigation results. Empiric treatment with intravenous (IV) aciclovir in cases of suspected meningitis to cover for possible concurrent viral encephalitis is an approach not supported by the National Institute for Clinical Excellence (NICE) ( https://www.nice.org.uk/guidance/ng240 , 2024). Such practice exposes patients to the risk of iatrogenic nephrotoxicity and neurotoxicity.</p><p><strong>Methods: </strong>Our objectives were to evaluate the diagnostic approach to suspected viral encephalitis and appropriateness of aciclovir prescription. This was a retrospective cohort study of 410 patients over 16 years old prescribed IV aciclovir for suspected central nervous system infection at Royal Free London NHS Foundation Trust between December 2021 and February 2024.</p><p><strong>Results: </strong>29% of patients fulfilled diagnostic criteria for possible or probable encephalitis while 5% did not fulfil any of the criteria. 38% had no microbiological or serological testing for HSV or varicella zoster virus. Discharge diagnoses included 5% with viral encephalitis (2% confirmed on cerebrospinal fluid testing) and 6% with meningitis, while the commonest diagnosis was delirium (11% of patients).</p><p><strong>Discussion: </strong>While acknowledging clinical uncertainty and attendant risks of missing a diagnosis of true viral encephalitis, in line with NICE guidelines we suggest a review of routine prescription of IV aciclovir in suspected meningitis and emphasise the importance of altered mental status as a useful distinguishing feature between viral encephalitis and meningitis in immunocompetent patients.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"463"},"PeriodicalIF":4.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302265","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":"Response to telitacicept in optic neuritis associated with Sjogren's syndrome: a case report and literature review.","authors":"Xue Chen, MingFang Sun, Ling Wang, YanLong Yang, HuanZi Dai","doi":"10.1007/s00415-025-13099-9","DOIUrl":"10.1007/s00415-025-13099-9","url":null,"abstract":"<p><strong>Background: </strong>Optic neuritis (ON) frequently presents as the initial symptom of multiple sclerosis and neuromyelitis optica. Additionally, ON is one of the manifestations of central nervous system damage in Sjögren's syndrome (SS). However, there is little research on SS-associated ON. Currently, there are no standard treatment methods for SS-associated ON, and the recurrence rate remains high.</p><p><strong>Methods: </strong>A 54-year-old female patient primarily exhibited symptoms of dry mouth and dry eyes, along with rapidly deteriorating vision and pain in the left eye. Laboratory tests revealed strong positivity for anti-Sjögren's-syndrome-related antigen A and anti-Sjögren's-syndrome-related antigen B antibodies, and a labial salivary gland biopsy showed focal lymphocytic sialadenitis with a focus score of 13 per 4 mm². Visual evoked potentials indicated a significant absence of waveform in the left eye. The patient was diagnosed with SS-associated ON; however, treatment with glucocorticoid (GC) and cyclophosphamide was unsatisfactory. The patient declined plasma exchange and Rituximab therapy; consequently, she was treated with GC and telitacicept.</p><p><strong>Results: </strong>During a 9-month follow-up period, at the minimum GC dosage, the patient's symptoms of dryness and visual acuity in the left eye improved significantly, with no reported recurrence or adverse drug reactions. This indicates both good clinical efficacy and safety.</p><p><strong>Conclusion: </strong>SS-associated ON is uncommon and easily misdiagnosed. Conventional therapies for ON cannot control recurrence. Telitacicept might represent a promising choice to treat SS-associated ON.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"462"},"PeriodicalIF":4.8,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293925","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":"Annual level changes of serum neuronal and glial biomarkers in a German professional football club.","authors":"Robert Marshall, Samir Abu-Rumeileh, Lisa Habeck, Petra Steinacker, Matteo Foschi, Kai Wohlfahrt, René Schwesig, Helge Riepenhof, Jan-Niklas Droste, Lorenzo Barba, Markus Otto","doi":"10.1007/s00415-025-13176-z","DOIUrl":"10.1007/s00415-025-13176-z","url":null,"abstract":"<p><strong>Background: </strong>Professional football players (PFP) experience repeated mild traumatic brain injuries (TBI) and have an increased long-term dementia risk. We aimed to assess annual level changes of blood neuronal (neurofilament light chain, NfL) and astroglial (glial fibrillary acidic protein, GFAP) biomarkers in PFPs over 2 years.</p><p><strong>Methods: </strong>We measured with commercial immunoassays NfL and GFAP concentrations n = 129 serum samples obtained from n = 43 male PFPs playing for a German professional football team. Samples were collected at five time points over 2 years and before/after an index match. Associations between blood markers and potential sources of neuronal damage, such as intense physical activity, injuries, and headers, were tested.</p><p><strong>Results: </strong>Serum NfL and GFAP concentrations in PFPs were significantly different at repeated measurements (p < 0.001) but were not associated with metrics of physical activity, total time of physical activity, total number of headers, and headers-per-match. After injuries with mild TBI, serum NfL and GFAP increased and returned to normal levels within few days. Before and after an index match, serum levels of NfL and GFAP were not significantly different, nor they were significantly associated with physical activity and headers.</p><p><strong>Discussion: </strong>Serum NfL and GFAP may be used to monitor PFP over time. Repeated headers and intense physical activity in PFPs seem to be safe on a neurochemical level.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"461"},"PeriodicalIF":4.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12165892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293924","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":"DAGLA autoantibody experience at Mayo Clinic.","authors":"Nisa Vorasoot, Cigdem Isitan-Alkawadri, Bharat Pillai, Ramona Miske, Divyanshu Dubey, Michael Gilligan, Stefanie Hahn, John Mills, Sean J Pittock, Anastasia Zekeridou, Andrew McKeon","doi":"10.1007/s00415-025-13197-8","DOIUrl":"10.1007/s00415-025-13197-8","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"460"},"PeriodicalIF":4.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12165888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285029","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":"Prospective quantitative evaluation of gait and stance in patients with acute vertigo and dizziness.","authors":"Hristo Hadzhikolev, Ken Möhwald, Patricia Jaufenthaler, Max Wuehr, Klaus Jahn, Andreas Zwergal","doi":"10.1007/s00415-025-13191-0","DOIUrl":"10.1007/s00415-025-13191-0","url":null,"abstract":"<p><strong>Background: </strong>Patients with acute vertigo and dizziness often suffer from gait ataxia and postural imbalance. However, detailed and quantitative investigations of gait and stance are largely missing during the acute stage of symptoms.</p><p><strong>Methods: </strong>This study explores whether assessing objective gait and stance parameters can help differentiate between peripheral and central causes of isolated acute vertigo and dizziness. Patients underwent a standardized protocol within the EMVERT study at the emergency department of LMU University Hospital during the acute stage (on average at 16 h after symptom onset), which included the Timed Up and Go test (TUG), Functional Gait Assessment (FGA), Gait and Truncal Ataxia Index (GTI) and mobile posturography. Patients were categorized into three groups: Acute vestibular strokes (n = 56), acute unilateral vestibulopathy (AUVP, n = 52) and episodic vestibular disorders (n = 92). Outcomes were analyzed using logistic regression models and ROC curves adjusted for age and sex.</p><p><strong>Results: </strong>We found that patients with AUVP exhibited worse TUG, FGA and GTI scores than those with vestibular strokes or episodic vestibular disorders. ROC curves for TUG, FGA and GTI showed a weak diagnostic accuracy (0.57-0.62) for stroke versus AUVP, which only improved (to 0.75-0.82), if corrected for age and gender. Posturographic sway path was lowest for episodic vestibular disorders, but similar for stroke and AUVP.</p><p><strong>Conclusion: </strong>Clinical gait and stance tests such as TUG, FGA and GTI do not reliably differentiate central from peripheral etiologies of isolated acute vertigo and dizziness in patients with a mild to moderate burden of symptoms.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"458"},"PeriodicalIF":4.8,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12162741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275078","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":"Complement activation profiles in patients with immune checkpoint inhibitor-associated neuromuscular immune-related adverse events.","authors":"Leonie Müller-Jensen, Nora Möhn, Thomas Skripuletz, Sophia Carl, Janin Thomas, Lea Grote-Levi, Sandra Nay, Philipp Ivanyi, Imke von Wasielewski, Ralf Gutzmer, Carsten Dittmayer, Werner Stenzel, Samuel Knauss, Matthias Endres, Jan D Lünemann, Wolfgang Boehmerle, Petra Huehnchen","doi":"10.1007/s00415-025-13181-2","DOIUrl":"10.1007/s00415-025-13181-2","url":null,"abstract":"<p><strong>Background: </strong>Immune-related neuropathy (irNeuropathy) and myositis (irMyositis) are the most common neurologic adverse events (irAE-n) associated with immune checkpoint inhibitors. Although case reports suggest benefits of complement inhibitors, the role of complement activation in irAE-n is understudied.</p><p><strong>Methods: </strong>In a retrospective multicenter study, we enrolled patients with irNeuropathy or irMyositis, cancer controls (CCs), and healthy controls (HCs). Serum levels of 11 complement components were measured using multiplex enzyme-linked immunosorbent assays. Associations with irAE-n severity and outcomes were assessed by Spearman's correlation. C5b-9-positive complement deposition was analyzed in muscle and nerve specimens from a subset of patients.</p><p><strong>Results: </strong>Thirty-one irMyositis patients, 25 irNeuropathy patients, 25 CCs, and 17 HCs were included. Complement component levels were elevated in irNeuropathy (C3a, C5a, sC5b-9, C3, Ba, C4a), irMyositis (C3a, Ba), and CCs (C3a, C5a, sC5b-9, Bb, Ba, C4a), compared to HCs. In irMyositis, higher levels of C5a and complement regulators Factor H and I correlated with lower irAE-n severity (p = 0.02, rho = -0.45; p = < 0.01, rho = -0.56; p = < 0.001, rho = -0.67, respectively), and improved outcomes (p = 0.03, rho = -0.42; p = 0.05, rho = -0.40; p = < 0.001, rho = -0.64, respectively). Subtle C5b-9 deposition was detected in all tissue samples but showed non-specific patterns.</p><p><strong>Discussion: </strong>Systemic complement activation is detectable in cancer patients regardless of irAE-n status, and tissue complement deposition is unspecific. Our findings suggest that complement activation is not a major driver of irAE-n, leaving the therapeutic potential of complement inhibitors uncertain.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 7","pages":"459"},"PeriodicalIF":4.8,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12162679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285028","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}