Journal of Neurology最新文献

{"title":"Safety and efficacy of repeated intravenous thrombolysis within 3 months for acute ischemic stroke: a systematic review and individual-patient data meta-analysis.","authors":"Irene Scala, Antonio Ciacciarelli, Virginia Cancelloni, Anna Digiovanni, Debora Galotto, Anna Gardin, Fabrizio Giammello","doi":"10.1007/s00415-026-14144-x","DOIUrl":"10.1007/s00415-026-14144-x","url":null,"abstract":"<p><strong>Background: </strong>Current stroke guidelines consider a previous acute ischemic stroke (AIS) within 3 months a relative contraindication to intravenous thrombolysis (IVT) because of the perceived risk of symptomatic intracranial haemorrhage (sICH). The recommendation is largely based on expert consensus, while growing evidence suggests repeated IVT (RIVT) may be feasible in selected patients.</p><p><strong>Aims: </strong>To systematically review the efficacy and safety of RIVT for recurrent AIS within 90 days of a previous IVT-treated stroke.</p><p><strong>Results: </strong>We performed a systematic review and individual-patient data meta-analysis, including 28 reports (63 patients), with individual patient data available for 44 cases. Overall, 66.7% of patients achieved a favorable outcome, with a 7.5 days median interval between treatments. Meta-analysis showed a non-significant trend toward better functional outcomes after RIVT (pooled OR = 1.52, 95% CI 0.97-2.39; I² = 0%) and no significant increase in functional deterioration between stroke episodes (pooled OR = 1.28, 95% CI 0.75-2.19; I² = 0%). Outcomes were not influenced by treatment interval, age, sex, stroke etiology, vascular territory, or onset-to-treatment time. No sICH occurred after RIVT. Asymptomatic intracranial or systemic haemorrhages were reported in 15.9% of patients, while fatal events (5%) were unrelated to neurological complications. Haemorrhagic and fatal events occurred predominantly in patients with cardioembolic and more severe strokes.</p><p><strong>Conclusions: </strong>RIVT within 90 days is a rare event and its efficacy is understudied. It may be a reasonable reperfusion strategy in carefully selected patients with recurrent AIS, suggesting that the interval from the previous stroke should not be considered an isolated exclusion criterion for IVT.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008674","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":"What do ALS motor phenotypes measure? A population-based decomposition of their prognostic dimensions.","authors":"Andrea Calvo, Cristina Moglia, Stefano Callegaro, Antonio Canosa, Umberto Manera, Gabriele Mora, Sara Cabras, Francesca Palumbo, Enrico Matteoni, Alessandra Maccabeo, Giorgio Pellegrino, Emilio Minerva, Daniela Pascariu, Fabrizio D'Ovidio, Rosario Vasta, Letizia Mazzini, Fabiola De Marchi, Adriano Chiò","doi":"10.1007/s00415-026-14134-z","DOIUrl":"10.1007/s00415-026-14134-z","url":null,"abstract":"<p><strong>Background: </strong>The ALS-OPM 3.3 classification stratifies incident ALS through three axes: onset region (O), propagation time (P) and motor-neuron pattern (M). We assessed whether OPM 3.3 improves prognostic discrimination over established classifications and characterised how it decomposes their prognostic signal in a population-based cohort.</p><p><strong>Methods: </strong>In the prospective Piedmont and Aosta Valley ALS Register (2000-2022), patients were classified on the three axes; M was operationalised as M_3class (M0 balanced, M1d UMN-predominant, M2d LMN-predominant), with the PLS-spectrum M1p analysed separately. Outcome was survival (death or tracheostomy) from onset. Multivariable Cox models (O, P1(n), M_3class, age, sex) underwent bootstrap optimism-correction and fivefold cross-validation, and were compared against alternative taxonomies and clinical staging systems.</p><p><strong>Results: </strong>Amongst 2,738 non-PLS patients (2,561 events, 93.5%), median survival differed across M classes (M0 27.0, M2d 36.0, M1d 41.9 months). OPM 3.3 outperformed the bulbar/spinal dichotomy but matched the classical phenotype (optimism-corrected C-index 0.703, 95% CI 0.685-0.719 vs 0.701). In the arm-proximal cell (95.7% M2d), the O2p protective effect vanished after M adjustment (HR 0.99, 95% CI 0.79-1.24), whilst M2d retained HR 0.83 (95% CI 0.72-0.95), showing prognosis reflects motor-neuron pattern, not anatomy. Adding King's, Milano-Torino (MiToS), or Fine'til 9 (FT9) clinical staging further improved discrimination.</p><p><strong>Conclusions: </strong>OPM 3.3 did not improve discrimination over established phenotypes but decomposed their prognostic signal into independently interpretable dimensions. Favourable prognosis of arm-proximal/flail-arm onset reflects the underlying LMN-predominant phenotype, not onset site. The motor-neuron axis is robust to the treatment of the propagation axis and independent of clinical staging.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149002006","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":"High-load resistance training and FSHD: harmful mixture or a silver bullet combination?","authors":"Marius Meinhold, Troy A Hornberger","doi":"10.1007/s00415-026-14148-7","DOIUrl":"10.1007/s00415-026-14148-7","url":null,"abstract":"<p><p>Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder characterized by asymmetric loss of muscle mass and strength, as well as fatty infiltration, inflammation, oxidative stress, and fibrosis. Unfortunately, as the disease progresses, these features can lead to the loss of mobility and independence. High-load resistance training (RT) is a well-established therapeutic strategy for increasing muscle mass and strength, and emerging evidence suggests it may also attenuate fatty infiltration, inflammation, oxidative stress, and fibrosis in other populations. Despite this therapeutic potential, high-load RT has long been approached with caution in FSHD, and current recommendations largely discourage its use. In this review, we critically examine the historical and scientific basis for this dogma and find that it rests on a small number of poorly substantiated and largely unreplicated studies. We further show that the limited RT trials conducted in individuals with FSHD have consistently reported good tolerability and, in several cases, moderate improvements in strength and function. Critically, no study to date has implemented a true high-load RT protocol alongside validated markers of muscle damage, a design that accounts for the asymmetry of the disease, and imaging that is sensitive enough to detect disease-modifying effects (e.g., MRI). We argue that the current consensus against high-load RT in FSHD reflects an absence of evidence rather than evidence of no benefit. Thus, we hope this narrative review encourages the FSHD community to revisit fundamental questions about the safety and therapeutic potential of high-load RT, and to create practical guidelines based on rigorous studies.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149001982","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":"Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis.","authors":"Elena Moreno-Charco, Carlos Pascual-Morena, Celia Álvarez-Bueno, Blanca Zuheros-Lara, Irene Martínez-García, Pilar Martínez-Sánchez, Miguel Contreras-Molina, Silvana Patiño-Cardona","doi":"10.1007/s00415-026-14143-y","DOIUrl":"10.1007/s00415-026-14143-y","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is associated with intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), emotional and seizure disorders. However, published prevalence estimates vary widely. The aim of this meta-analysis was to estimate the prevalence of ID, ASD, ADHD, epileptic seizures and emotional disorders in NF1. A systematic search was conducted in MEDLINE, Scopus and Web of Science from inception to April 2026. Studies that estimated the proportion of patients with these disorders were included. Where possible, genotype was considered, i.e., NF1 general versus NF1 microdeletions. Random-effects meta-analyses with their 95% confidence intervals (CI) were performed. Fifty studies were included. The prevalence of ID was 8% (95% CI 6-11, n = 17) in NF1 and 41% (95% CI 29-52, n = 2) in NF1 microdeletion; the prevalence of ASD was 11% (95% CI 7-14, n = 17) in NF1; the prevalence of ADHD was 33% (95% CI 26-40, n = 29) in NF1 and 45% (95% CI 25-65, n = 2) in NF1 microdeletion; the prevalence of seizures was 11% (95% CI 8-14, n = 13); the prevalence of epilepsy was 9% (95% CI 6-11, n = 16); and the prevalence of depression and anxiety was 13% (95% CI 3-23, n = 11) and 12% (95% CI 5-20, n = 10). NF1 is associated with neuropsychiatric and seizure disorders, reinforcing existing recommendations for neuropsychiatric screening in this population. Further research incorporating molecular data is also required, particularly in the subgroup with NF1 microdeletions.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13585979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148990307","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: Ultrasonography demonstrates vagus nerve atrophy in Parkinson's disease: a meta-analysis.","authors":"Laura C J Sijben, Sander M J van Kuijk, Ali Jahanshahi, Werner H Mess, Marcus L F Janssen","doi":"10.1007/s00415-026-14086-4","DOIUrl":"10.1007/s00415-026-14086-4","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13582409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982741","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":"Gabrielle Lévy (1886-1934).","authors":"Carlos Alvarado-De la Hoz, Andres Felipe Cardenas-Cruz, Alba Lucia Marentes-Cubillos","doi":"10.1007/s00415-026-14135-y","DOIUrl":"10.1007/s00415-026-14135-y","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982719","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":"Distinct small-fiber dysfunction profiles in CMT1A and RFC1 disease: a multimodal study.","authors":"Sara Massucco, Massimo Leandri, Viola Bruzzone, Lucilla Nobbio, Mehrnaz Hamedani, Silvia Stara, Emilia Bellone, Alessandro Geroldi, Consuelo Venturi, Chiara Gemelli, Angelo Schenone, Lucio Marinelli, Marina Grandis","doi":"10.1007/s00415-026-14145-w","DOIUrl":"10.1007/s00415-026-14145-w","url":null,"abstract":"<p><strong>Background: </strong>Charcot-Marie-Tooth disease 1A (CMT1A) and Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)/Replication Factor Complex subunit 1 (RFC1)-related disease affect large nerve fibers, but small fiber dysfunction may contribute to pain and dysautonomia. We applied a multimodal protocol, including potentials elicited by a micropatterned electrode targeting intraepidermal nerve endings, to characterize small fiber involvement.</p><p><strong>Methods: </strong>In this cross-sectional study, healthy controls (HC) and patients with CMT1A or RFC1 disease underwent neurologic examination, autonomic assessment with the composite autonomic symptom score-31 (COMPASS-31) and compound autonomic dysfunction test (CADT), electrochemical skin conductance (ESC), nociceptive evoked potentials (NEPs), pain-related evoked potentials (PREPs), somatosensory evoked potentials (SEPs), and skin biopsy.</p><p><strong>Results: </strong>Twenty-one patients with CMT1A, 16 with RFC1 disease, and 21 HC were included. Neuropathic pain occurred in 33% of CMT1A and 81% of RFC1 patients. Dysautonomia was prominent in RFC1 disease, with abnormal CADT scores in 94%, COMPASS-31 scores of 7-46, and abnormal ESC in 63%, compared with 24% in CMT1A. N40 NEP latencies were prolonged in both patient groups versus HC (p<0.001), with absent responses in 33% and 44%, respectively. PREPs showed prolonged N2 latencies in CMT1A (p=0.003), with absent N2 responses in 57%; in RFC1 disease, N2 responses were absent in 50%. Skin biopsy showed length-dependent intraepidermal nerve fiber density loss in CMT1A and severe non-length-dependent epidermal denervation in RFC1 disease.</p><p><strong>Discussion: </strong>Multimodal assessment integrating ESC, NEPs, PREPs, and skin biopsy identifies distinct Aδ- and C-fiber dysfunction patterns in CMT1A and RFC1 disease and may support phenotyping and small-fiber biomarker development in peripheral neuropathies.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13582087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982724","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":"Ocrelizumab-related organizing pneumonia in multiple sclerosis: insights from a case series and literature review.","authors":"Enrico Petza, Simone Guerrieri, Veronica Marino, Irene Gattuso, Martina Rubin, Agostino Nozzolillo, Maria A Rocca, Lucia Moiola, Massimo Filippi","doi":"10.1007/s00415-026-14130-3","DOIUrl":"10.1007/s00415-026-14130-3","url":null,"abstract":"<p><strong>Background: </strong>Organizing pneumonia (OP) is a rare interstitial lung disease that may occur secondary to drug exposure. Although OP has been described during rituximab treatment, the association with ocrelizumab remains elusive, with evidence limited to a few recent cases. We aimed to characterize ocrelizumab-related OP in the context of the existing literature.</p><p><strong>Methods: </strong>Clinical, radiological, laboratory, therapeutic, and outcome data were retrospectively collected from multiple sclerosis (MS) patients with ocrelizumab-associated OP at our center and descriptively compared with 17 cases identified through a literature review.</p><p><strong>Results: </strong>Among 626 ocrelizumab-treated MS patients, five cases of OP were observed (0.8%) (3 females, median age=54 years, range=27-64). OP developed after a mean treatment exposure of 5.1 years (standard deviation (SD=2.9) and a mean interval of 10.8 weeks (SD=10.4) following the last infusion. Clinical presentation was characterized by persistent antibiotic-refractory fever, sometimes accompanied by nonproductive cough. Chest CT consistently showed patchy ground-glass opacities and consolidations. All patients received prednisone 0.5-1 mg/kg/day for a median duration of 30 days (range=15-60), followed by gradual tapering. Despite initial clinical response, respiratory relapses and residual radiological lung abnormalities were observed in four patients during a median follow-up of 29 months (range=4-47). Ocrelizumab was discontinued in all patients. Only one patient initiated ozanimod two years after OP onset.</p><p><strong>Discussion: </strong>Our findings support the emerging evidence of ocrelizumab-related OP and show substantial consistency with previously reported cases. Further studies are needed to clarify the potential role of CD20+ lymphocyte depletion in OP pathogenesis.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982786","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 utility and methodological implementation of smartphone-based mobility analysis: a scoping review.","authors":"Edwin H Y Lui, Ralph Jasper Mobbs","doi":"10.1007/s00415-026-14131-2","DOIUrl":"10.1007/s00415-026-14131-2","url":null,"abstract":"<p><strong>Background: </strong>Mobility is an informative marker of neurological function, physiological reserve, and functional independence. Laboratory gait analysis requires costly specialized equipment, while research wearables can impose sustained-use burdens. Smartphone inertial measurement units (IMUs) offer a widely available platform for longitudinal assessment within a patient's natural environment.</p><p><strong>Methods: </strong>Following PRISMA-ScR guidelines, PubMed, Embase, and Scopus were searched for peer-reviewed studies using internal smartphone sensors to map reported clinical applications, methodological implementation, validation approaches, and translational barriers.</p><p><strong>Results: </strong>Eighty-four studies met the inclusion criteria. Neurology was the most frequently represented clinical domain (36.9%), with additional applications in geriatrics (14.3%) and orthopedics (13.1%). 10.7% (n=9) were classified as validation-focused; the remainder had diagnostic (36.9%), prognostic (38.1%), or longitudinal monitoring (14.3%) aims. Most assessments remained controlled (54.8%), supervised (67.9%), and dependent on active testing protocol (73.8%), whereas only 23.8% captured passive, free-living mobility. Implementation was heterogeneous: 71.4% of protocols required fixed device placements, 82.1% used custom software, and 7.1% integrated with native platforms. The extracted measures included activity volume, gait-quality metrics, and machine-learning features derived from raw inertial data.</p><p><strong>Conclusion: </strong>Smartphones provide a widely available platform for multidimensional mobility sensing, but the mapped evidence largely concerns feasibility, technical validation, or associations with clinical status and outcomes. Routine clinical utility has not been established. Translation will require standardized acquisition and reporting, cross-device and cross-platform validation, context-aware analysis, privacy-preserving data governance, and prospective evidence that implementation improves clinical decisions or patient-relevant outcomes. Passive monitoring may complement standardized assessment by providing longitudinal measures of real-world performance.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13577997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148977191","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":"Luigi Luciani (1840-1919).","authors":"Andrew J Larner, Stefano Sandrone","doi":"10.1007/s00415-026-14136-x","DOIUrl":"10.1007/s00415-026-14136-x","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148977184","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}