Journal of Neurology最新文献

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Stroke secondary to cancer-associated coagulopathy: a systematic review. 继发于癌症相关凝血功能障碍的中风:一项系统综述。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-20 DOI: 10.1007/s00415-026-14119-y
Carlota Jauregui Larrañaga, Emilio Gómez Arteta, Juan Marta Enguita, María Elena Erro Aguirre
{"title":"Stroke secondary to cancer-associated coagulopathy: a systematic review.","authors":"Carlota Jauregui Larrañaga, Emilio Gómez Arteta, Juan Marta Enguita, María Elena Erro Aguirre","doi":"10.1007/s00415-026-14119-y","DOIUrl":"10.1007/s00415-026-14119-y","url":null,"abstract":"<p><strong>Background: </strong>Stroke is the second most common neurological complication in cancer patients after metastases. Cancer-associated coagulopathy (CAC) is an important mechanism of ischemic stroke in this population. We systematically reviewed the epidemiological, clinical, radiological, and pathophysiological features of CAC-related stroke, as well as associated biomarkers and treatment strategies.</p><p><strong>Methods: </strong>A systematic search of PubMed/MEDLINE, Scopus, Cochrane Library, and Embase (2000-2025) was performed according to PRISMA 2020 guidelines. Search terms included \"stroke\", \"cancer\", \"hypercoagulability\", \"coagulopathy\", \"disseminated intravascular coagulation\", and \"non-bacterial or marantic thrombotic endocarditis\". Studies published in English or Spanish were included, whereas case reports and review articles were excluded. Data were synthesized qualitatively.</p><p><strong>Results: </strong>Eighty-two studies met inclusion criteria. CAC-related stroke occurs predominantly within six months of cancer diagnosis and is strongly associated with advanced or metastatic disease and a high risk of early recurrence. Adenocarcinoma, particularly lung and pancreatic cancer, is the most frequently associated histological subtype. Proposed mechanisms include mucin-mediated platelet aggregation, tissue factor-driven coagulation, extracellular vesicles, and neutrophil extracellular trap formation, leading to thromboinflammation and platelet-rich thrombi. D-dimer is the biomarker most consistently associated with recurrence and mortality, while C-reactive protein, fibrinogen, CA-125, and transcranial Doppler microembolic signals show limited specificity. Characteristic imaging findings include multiple infarcts involving more than two vascular territories, particularly the 'three territories sign'. Low-molecular-weight heparin and direct oral anticoagulants are the most commonly used secondary prevention strategies. Thirty-day mortality rates range from 25 to 50%.</p><p><strong>Conclusions: </strong>CAC-related stroke is a distinct and underrecognized entity characterized by specific biological and radiological features and poor outcomes. Earlier recognition and optimized antithrombotic strategies may improve prognosis.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13590450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149011997","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}
引用次数: 0
Central nervous system manifestations in hereditary transthyretin amyloidosis: a cross-sectional study with 151 patients. 遗传性甲状腺转蛋白淀粉样变的中枢神经系统表现:151例患者的横断面研究。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-20 DOI: 10.1007/s00415-026-14146-9
Luísa Sousa, Teresa Coelho, Joana Fernandes, Márcio Cardoso, Cristina Alves, Ana Martins da Silva, Ana Paula Sousa, Miguel Mendonça Pinto, Rafael Maniés Pereira, Luís Ruano, Carolina Lemos, Inês Baldeiras, Carolina Reis, Ricardo Taipa
{"title":"Central nervous system manifestations in hereditary transthyretin amyloidosis: a cross-sectional study with 151 patients.","authors":"Luísa Sousa, Teresa Coelho, Joana Fernandes, Márcio Cardoso, Cristina Alves, Ana Martins da Silva, Ana Paula Sousa, Miguel Mendonça Pinto, Rafael Maniés Pereira, Luís Ruano, Carolina Lemos, Inês Baldeiras, Carolina Reis, Ricardo Taipa","doi":"10.1007/s00415-026-14146-9","DOIUrl":"10.1007/s00415-026-14146-9","url":null,"abstract":"<p><strong>Background: </strong>Central nervous system (CNS) dysfunction is increasingly recognized in hereditary transthyretin (ATTRv) amyloidosis. We aimed to characterize CNS manifestations and assess associations with clinical variables and plasma neurofilament light chain (NfL), using history of transient focal neurological episodes (TFNEs) as the main outcome.</p><p><strong>Methods: </strong>We conducted a cross-sectional study at Unidade Corino de Andrade in Porto (January 2021-April 2023), including patients with ATTRv amyloidosis caused by the V30M mutation. History of TFNEs, stroke, seizures, headaches and symptoms/signs of cranial nerve dysfunction were assessed through patient interview and neurological examination. Plasma NfL was analyzed cross-sectionally and longitudinally (0-6-12 months).</p><p><strong>Results: </strong>151 patients were included (56.3% male, median age 48 [IQR 44-53], with a median disease duration of 15 years [IQR 11-20]. Most had early-onset disease (94.7%). TFNE history occurred in 29.1%, headaches in 23.8%, seizures in 6.6% and stroke in 1.3%. Patients with past TFNEs had longer disease duration than those without. No other robust differences were identified. Longitudinally, pNfL levels showed an overall effect of time (p=0.013), driven by a decrease between 6 and 12 months, with no significant differences between baseline and either follow-up timepoint. There were no differences in pNfL trajectories according to TFNEs history (time-by-TFNE interaction, p=0.416).</p><p><strong>Conclusions: </strong>The high frequency of CNS symptoms in this sample supports including CNS assessment in routine follow-up of patients with ATTRv amyloidosis with longstanding disease. Further longitudinal studies are needed to clarify determinants of CNS involvement.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13590438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012010","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}
引用次数: 0
Visual snow syndrome as a neuropsychiatric network disorder: clinical features, mechanisms, and therapeutic perspectives. 视雪综合征作为一种神经精神网络障碍:临床特征、机制和治疗观点。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-20 DOI: 10.1007/s00415-026-14137-w
Qing Huang, Jing Wang, Lichao Zhao, Xuanyue Yu, Weina Wang, Zeyuan Wang, Yi Liu
{"title":"Visual snow syndrome as a neuropsychiatric network disorder: clinical features, mechanisms, and therapeutic perspectives.","authors":"Qing Huang, Jing Wang, Lichao Zhao, Xuanyue Yu, Weina Wang, Zeyuan Wang, Yi Liu","doi":"10.1007/s00415-026-14137-w","DOIUrl":"10.1007/s00415-026-14137-w","url":null,"abstract":"<p><p>Visual Snow Syndrome (VSS) is a neurological condition characterized by the persistent perception of dynamic, flickering, dot-like visual disturbances across the entire visual field, resembling television static. Increasing evidence indicates that VSS is frequently accompanied by a broad spectrum of psychiatric symptoms, including anxiety, depression, depersonalization, fatigue, and sleep disturbances, all of which substantially impair quality of life. Although the pathogenesis of VSS remains incompletely understood, Current evidence increasingly suggests that VSS may represent a multisystem neuropsychiatric network disorder involving visual cortical hyperexcitability, thalamocortical dysrhythmia, widespread abnormalities in functional connectivity, and limbic system dysfunction. Psychiatric symptoms may partly reflect intrinsic neurobiological mechanisms of the syndrome rather than being solely secondary psychological reactions to chronic visual disturbances. Current pharmacological therapies generally show limited efficacy. Preliminary evidence suggests that non-pharmacological approaches, including neuromodulation, tinted lenses, and mindfulness-based interventions, may offer therapeutic potential with relatively favorable tolerability, although larger controlled studies are still required. Future research should adopt multidisciplinary strategies integrating neurology, psychiatry, neuroimaging, and genetics to further elucidate the mechanisms underlying VSS and facilitate the development of precision diagnostic and therapeutic approaches.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"273 10","pages":""},"PeriodicalIF":5.4,"publicationDate":"2026-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13590441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149012028","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}
引用次数: 0
Clinical trials in non-ambulatory people with progressive multiple sclerosis: can the nine hole peg test step up as primary outcome measure? 进行性多发性硬化症非活动患者的临床试验:九孔钉试验能否作为主要结局指标?
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-19 DOI: 10.1007/s00415-026-14140-1
Miguel D'Haeseleer, Eva M M Strijbis, Gary Cutter, Laetitia Della Faille, Marie B D'hooghe, Daphne Kos, Anne-Lotte Lison, Jop Mostert, Guy Nagels, Pavle Repovic, Bernard M J Uitdehaag, Ann Van Remoortel, Jeroen Van Schependom, Marcus W Koch
{"title":"Clinical trials in non-ambulatory people with progressive multiple sclerosis: can the nine hole peg test step up as primary outcome measure?","authors":"Miguel D'Haeseleer, Eva M M Strijbis, Gary Cutter, Laetitia Della Faille, Marie B D'hooghe, Daphne Kos, Anne-Lotte Lison, Jop Mostert, Guy Nagels, Pavle Repovic, Bernard M J Uitdehaag, Ann Van Remoortel, Jeroen Van Schependom, Marcus W Koch","doi":"10.1007/s00415-026-14140-1","DOIUrl":"10.1007/s00415-026-14140-1","url":null,"abstract":"<p><strong>Background: </strong>Non-ambulatory patients are generally excluded from clinical trials in progressive multiple sclerosis (MS), even though they continue to experience disability worsening. Using hand function - assessed with the Nine Hole Peg Test (NHPT) - as a primary endpoint could enable their inclusion. We aimed to describe two-year NHPT trajectories and identify predictors of worsening in this population to inform the design of such trials.</p><p><strong>Methods: </strong>We included 131 patients from the Belgian National MS Center (Melsbroek) database with (1) progressive MS, (2) a baseline Expanded Disability Status Scale (EDSS) score of ≥ 7.0, and (3) available NHPT and EDSS scores at baseline, 12, and 24 months. We applied four definitions for NHPT worsening: classical (C), best hand (BH), worst hand (WH), and either hand (EH). We investigated associations between baseline characteristics and NHPT worsening with logistic regression.</p><p><strong>Results: </strong>Across all four definitions, NHPT performance consistently worsened over time. C, BH, and WH outcomes showed similar progression rates: approximately 25% at 12 months and 40% at 24 months. The EH-NHPT definition proved most sensitive (35.9% worsening at 12 months and 52.7% at 24 months), with paradoxical improvement observed in 15.3% and 9.2% of patients, respectively. Older age and poor hand function at baseline modestly decreased the likelihood of EH-NHPT worsening at 24 months; there were no significant predictors at 12 months.</p><p><strong>Conclusion: </strong>Hand function deteriorates in non-ambulatory people with progressive MS. The EH-NHPT may represent a sensitive and feasible endpoint for future clinical trials in this often-neglected population.</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":"149008745","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}
引用次数: 0
Felix Stern (1884- 1942). 费利克斯·斯特恩(1884- 1942)。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-19 DOI: 10.1007/s00415-026-14141-0
Jürgen Schlegel, Gabriele Stumm, Kaspar Matiasek, Dennis Tappe
{"title":"Felix Stern (1884- 1942).","authors":"Jürgen Schlegel, Gabriele Stumm, Kaspar Matiasek, Dennis Tappe","doi":"10.1007/s00415-026-14141-0","DOIUrl":"10.1007/s00415-026-14141-0","url":null,"abstract":"","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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13589706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008732","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}
引用次数: 0
Safety and efficacy of repeated intravenous thrombolysis within 3 months for acute ischemic stroke: a systematic review and individual-patient data meta-analysis. 3个月内反复静脉溶栓治疗急性缺血性卒中的安全性和有效性:一项系统评价和个体患者数据荟萃分析
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-19 DOI: 10.1007/s00415-026-14144-x
Irene Scala, Antonio Ciacciarelli, Virginia Cancelloni, Anna Digiovanni, Debora Galotto, Anna Gardin, Fabrizio Giammello
{"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; I<sup>2</sup> = 0%) and no significant increase in functional deterioration between stroke episodes (pooled OR = 1.28, 95% CI 0.75-2.19; I<sup>2</sup> = 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}
引用次数: 0
What do ALS motor phenotypes measure? A population-based decomposition of their prognostic dimensions. 肌萎缩侧索硬化症运动表型测量什么?基于人群的预测维度分解。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-18 DOI: 10.1007/s00415-026-14134-z
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
{"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}
引用次数: 0
High-load resistance training and FSHD: harmful mixture or a silver bullet combination? 高负荷阻力训练和FSHD:有害的混合物还是银弹组合?
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-18 DOI: 10.1007/s00415-026-14148-7
Marius Meinhold, Troy A Hornberger
{"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}
引用次数: 0
Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis. 1型神经纤维瘤病中神经精神和癫痫的患病率:系统回顾和荟萃分析
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-17 DOI: 10.1007/s00415-026-14143-y
Elena Moreno-Charco, Carlos Pascual-Morena, Celia Álvarez-Bueno, Blanca Zuheros-Lara, Irene Martínez-García, Pilar Martínez-Sánchez, Miguel Contreras-Molina, Silvana Patiño-Cardona
{"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}
引用次数: 0
Correction: Ultrasonography demonstrates vagus nerve atrophy in Parkinson's disease: a meta-analysis. 纠正:超声检查显示帕金森病的迷走神经萎缩:一项荟萃分析。
IF 5.4 2区 医学
Journal of Neurology Pub Date : 2026-09-16 DOI: 10.1007/s00415-026-14086-4
Laura C J Sijben, Sander M J van Kuijk, Ali Jahanshahi, Werner H Mess, Marcus L F Janssen
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