Journal of Neurology最新文献

{"title":"Generalized epileptic discharges leading into focal onset seizure: GOFE seizures as the initial diagnosis of epilepsy.","authors":"Davide Gusmeo Curti, Anna Bellini, Marco Cursi, Jacopo Lanzone, Gianni Cutillo, Giovanna F Fanelli, Federica Agosta, Massimo Filippi","doi":"10.1007/s00415-024-12841-z","DOIUrl":"https://doi.org/10.1007/s00415-024-12841-z","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"169"},"PeriodicalIF":4.8,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143039439","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":"Three-year treatment with anti-CGRP monoclonal antibodies modifies migraine course: the prospective, multicenter I-GRAINE study.","authors":"Piero Barbanti, Cinzia Aurilia, Paola Torelli, Gabriella Egeo, Florindo d'Onofrio, Cinzia Finocchi, Antonio Carnevale, Giovanna Viticchi, Marco Russo, Simone Quintana, Bianca Orlando, Giulia Fiorentini, Roberta Messina, Marco Bartolini, Francesca Pistoia, Massimo Filippi, Stefano Bonassi, Sabina Cevoli, Alice Mannocci","doi":"10.1007/s00415-025-12911-w","DOIUrl":"https://doi.org/10.1007/s00415-025-12911-w","url":null,"abstract":"<p><strong>Objectives: </strong>To determine whether extending anti-CGRP mAb treatment beyond 3 years influences migraine course, we analyzed migraine frequency during the first month of treatment discontinuation following three 12-month treatment cycles (Ts).</p><p><strong>Methods: </strong>This multicenter, prospective, real-world study enrolled 212 patients with high-frequency episodic migraine (HFEM) or chronic migraine (CM) who completed three consecutive Ts of subcutaneous anti-CGRP mAbs. Discontinuation periods (D1, D2, D3) were defined as the first month after T1, T2, and T3, respectively. The primary endpoint was the ≥ 50% response rate at D3 compared to D2. Secondary endpoints included changes in monthly migraine days (MMD), monthly headache days (MHD), monthly analgesic intake (MAI), numerical rating scale (NRS), Headache Impact Test-6 (HIT-6), ≥ 50% response rate at D3 versus D1 and D2, and relapse rates to CM or medication overuse.</p><p><strong>Results: </strong>At D3 vs. D2, significant improvements (p < 0.001) were observed in the ≥ 50% response rate (77.8% vs. 53.8%), MMD (- 2.1 ± 1.7), MHD (- 2.9 ± 2.4), MAI (- 2.6 ± 2.4), NRS (- 0.7 ± 1.3), and HIT-6 (- 7.2 ± 5.9), with lower relapse rates to CM (2.3% vs. 18%) and medication overuse (1.3% vs. 10.1%). Compared to D1, D3 demonstrated greater benefits (p < 0.001) in MMD (- 2.6 ± 1.9), MHD (- 5.8 ± 3.3), MAI (- 4.9 ± 3.4), NRS (- 1 ± 1.6), and HIT- 6 (- 9.4 ± 7), alongside higher ≥ 50% response rates (77.8% vs. 25%) and reduced relapses to CM (2.3% vs. 67.7%) and medication overuse (1.3% vs. 34.2%).</p><p><strong>Discussion: </strong>Three years of anti-CGRP mAb treatment revealed a progressive increase in the proportion of ≥ 50% responders (D1: 25%; D2: 53.8%; D3: 77.8%) and substantial reductions in migraine burden, suggesting that prolonged treatment may favorably modify migraine course.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"170"},"PeriodicalIF":4.8,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143039486","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":"Subarachnoid hemorrhage and finger-like projection predict recurrence in patients with lobar intracerebral hemorrhage.","authors":"Xin Huang, Xiangzhu Zeng, Lu Tang, Xiaolu Liu, Xiao Huang, Xiangyi Liu, Zhuoya Wang, Nan Li, Dongsheng Fan, Qiong Yang","doi":"10.1007/s00415-025-12900-z","DOIUrl":"10.1007/s00415-025-12900-z","url":null,"abstract":"<p><strong>Background and purpose: </strong>Lobar intracerebral hemorrhage (ICH) is associated with a high risk of recurrence, particularly in elderly patients, where cerebral amyloid angiopathy (CAA) is often the primary cause. Diagnostic markers of CAA-related ICH, including subarachnoid hemorrhage (SAH) and finger-like projection (FLP), have recently been developed. Here, we aimed to explore the associations between SAH, FLP and the risk of ICH recurrence in lobar ICH patients.</p><p><strong>Methods: </strong>We analyzed data from consecutive lobar ICH patients using the method of cohort study. We divided them into 4 groups on the basis of the presence or absence of SAH and FLP on CT imaging. The Cox regression model and competing risk model were used to analyze the associations of SAH and FLP with the risk of ICH recurrence at 1 year.</p><p><strong>Results: </strong>In total, 353 patients with lobar ICH (median age 74 [62, 81] years, 57.2% male) were included in our study. During follow-up, recurrence occurred in 34 patients (10.6%), and 90 patients (28.1%) died. The competing risk model revealed that patients in the SAH + FLP- (HR 2.88, 95% CI 1.12-7.44, p = 0.03) and SAH + FLP + (HR 8.38, 95% CI 3.40-20.66, p < 0.001) groups had higher risks of ICH recurrence within 1 year than did those in the SAH-FLP- group.</p><p><strong>Conclusion: </strong>SAH is an important predictor of ICH recurrence, and this predictive ability is further enhanced when FLP is present. These findings suggest that SAH, especially with FLP, can be a valuable tool for assessing prognosis in lobar ICH patients.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"166"},"PeriodicalIF":4.8,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11757861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028988","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":"Favorable long-term cognitive outcomes following recurrent ARIA linked to amyloid-lowering therapies: two cases.","authors":"Matteo Zavarella, Giordano Cecchetti, Giulia Rugarli, Alma Ghirelli, Ilaria Bottale, Francesca Orlandi, Edoardo G Spinelli, Roberto Santangelo, Francesca Caso, Sonia Francesca Calloni, Paolo Quintiliano Vezzulli, Andrea Falini, Giuseppe Magnani, Federica Agosta, Massimo Filippi","doi":"10.1007/s00415-025-12910-x","DOIUrl":"https://doi.org/10.1007/s00415-025-12910-x","url":null,"abstract":"<p><strong>Introduction: </strong>The large-scale approval of anti-amyloid monoclonal antibodies for treating Alzheimer's disease (AD) has raised concerns about their safety due to treatment-emergent amyloid-related imaging abnormalities (ARIA).</p><p><strong>Methods: </strong>We present two cases of patients diagnosed with mild cognitive impairment due to AD who were enrolled in the GRADUATE I clinical trial. They received subcutaneous gantenerumab every two weeks during the study period.</p><p><strong>Results: </strong>Both patients experienced recurrent ARIA-Effusion/Edema type (ARIA-E). One developed symptomatic and severe ARIA, leading to hospitalization and study withdrawal. We report a long follow-up post-randomization (65 and 54 months), during which the adverse events did not appear to have a negative impact on disease progression. Additionally, one patient had a negative amyloid-PET over a year after treatment cessation.</p><p><strong>Discussion: </strong>These cases suggest that recurrent ARIA-E do not inevitably lead to accelerated progression, instead, may relate to possible long-term benefits. The mechanisms underlying these findings warrant further real-life evidence.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"168"},"PeriodicalIF":4.8,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033228","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":"Characterizing the underlying microangiopathy of deep cerebellar intracerebral hemorrhage.","authors":"Alvin S Das, Avia Abramovitz Fouks, Elif Gökçal, Ofer Rotschild, Marco Pasi, Robert W Regenhardt, Joshua N Goldstein, Anand Viswanathan, Jonathan Rosand, Steven M Greenberg, M Edip Gurol","doi":"10.1007/s00415-025-12905-8","DOIUrl":"https://doi.org/10.1007/s00415-025-12905-8","url":null,"abstract":"<p><strong>Introduction: </strong>While cerebral amyloid angiopathy is likely responsible for intracerebral hemorrhage (ICH) occurring in superficial (grey matter, vermis) cerebellar locations, it is unclear whether hypertensive arteriopathy (HA), the other major cerebral small vessel disease (cSVD), is associated with cerebellar ICH (cICH) in deep (white matter, deep nuclei, cerebellar peduncle) regions. We tested the hypothesis that HA-associated neuroimaging markers are significantly associated with deep cICH compared to superficial cICH.</p><p><strong>Patients and methods: </strong>Brain MRI scans from consecutive non-traumatic cICH patients admitted to a referral center were analyzed for cSVD markers. Clinical risk factors, left ventricular hypertrophy (LVH, a marker of hypertensive end-organ damage), and neuroimaging markers were compared between patients with deep and superficial cICH in univariate and multivariable models.</p><p><strong>Results: </strong>Hypertension and LVH were more common among 83 (64%) patients with deep cICH compared to 46 (36%) with superficial cICH. HA-related markers such as peri-basal ganglia white matter hyperintensity pattern, deep lacunes, severe basal ganglia enlarged perivascular spaces, and deep cerebral microbleeds (CMBs) were more common among those with deep vs. superficial cICH. Strictly lobar CMBs were less common among patients with deep cICH, whereas mixed-location CMBs were more common. After multivariable adjustment, LVH (aOR 4.06, 95% CI [1.22-13.50], p = 0.02), deep lacunes (aOR 6.02, 95% CI [1.46-24.89], p = 0.01), and strictly lobar CMBs (aOR 0.09, 95% CI [0.02-0.45], p < 0.01) remained significantly associated with deep cICH.</p><p><strong>Discussion and conclusion: </strong>Because HA-associated markers are significantly associated with deep cICH, it is likely HA is the dominant underlying microangiopathy of this ICH subtype.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"167"},"PeriodicalIF":4.8,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033163","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":"Accuracy and clinical applicability of plasma tau 181 and 217 for Alzheimer's disease diagnosis in a memory clinic cohort.","authors":"Jordi Sarto, Diana Esteller-Gauxax, Núria Guillén, Neus Falgàs, Sergi Borrego-Écija, Miquel Massons, Guadalupe Fernández-Villullas, Yolanda González, Adrià Tort-Merino, Beatriz Bosch, Magda Castellví, Gerard Piñol-Ripoll, Jordi Juncà-Parella, Andrea Del Val, Agnès Pérez-Millan, Aina Comas, Anna Antonell, Laura Naranjo, Raquel Ruiz-García, Josep María Augé, Raquel Sánchez-Valle, Albert Lladó, Mircea Balasa","doi":"10.1007/s00415-025-12897-5","DOIUrl":"https://doi.org/10.1007/s00415-025-12897-5","url":null,"abstract":"<p><p>Plasma tau phosphorylated at threonine 181 (p-tau181) and 217 (p-tau217) have demonstrated high accuracy for Alzheimer's disease (AD) diagnosis, defined by CSF/PET amyloid beta (Aβ) positivity, but most studies have been performed in research cohorts, limiting their generalizability. We studied plasma p-tau217 and p-tau181 for CSF Aβ status discrimination in a cohort of consecutive patients attending an academic memory clinic in Spain (July 2019-June 2024). All patients had CSF AD biomarkers performed as part of their routine clinical assessment. Aβ positivity was defined with a local cut-off of CSF Aβ_1-42 < 600 pg/mL; in patients with borderline Aβ_1-42 values or when there was a mismatch between the Aβ and the T status (T + if CSF p-tau181 ≥ 65 pg/mL), a ratio Aβ_1-42/Aβ_1-40 < 0.07 was used. Plasma p-tau217 and p-tau181 were measured retrospectively, from blood samples collected at first visit, with Fujirebio Lumipulse and Quanterix Simoa assays, respectively. We included 468 patients (mean age 67 years, 50% female, 61% Aβ positive). Plasma p-tau217 outperformed plasma p-tau181 in discriminating CSF Aβ status (AUC 0.95 vs 0.90, p = 0.005). A 97.5% sensitivity and specificity plasma p-tau217 algorithm, classifying patients into three groups of Aβ probability (Low, Intermediate and High), resulted in 67% of patients in the Low and High groups, having their Aβ status predicted (as negative and positive, respectively) with 96% accuracy. The remaining 33% in the Intermediate group were candidates to undergo CSF/PET testing. A model with a 10% variation in p-tau217 levels yielded small changes in accuracy (95%). In conclusion, plasma p-tau217 could have discriminated CSF Aβ status in two-thirds of patients with very high accuracy in a memory clinic cohort. These results support the implementation of plasma p-tau217 as an initial diagnostic tool in memory clinics for AD diagnosis, reducing the need for more invasive/expensive testing.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"160"},"PeriodicalIF":4.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028855","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":"Correction: Shaky hands are a part of motor neuron disease phenotype: clinical and electrophysiological study of 77 patients.","authors":"Katarina Vogelnik, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Tabish A Saifee, Janez Zidar, Maja Kojović","doi":"10.1007/s00415-025-12891-x","DOIUrl":"https://doi.org/10.1007/s00415-025-12891-x","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"165"},"PeriodicalIF":4.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028931","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":"Incidence of Guillain-Barré syndrome in Cuba before and during the Oropouche virus emergency, 2018-2024.","authors":"José Raúl de Armas Fernández, Carilda Emilia Peña García, Belsy Acosta Herrera, Francisco Durán García, Iliovanys Betancourt Plaza, Isleidys Osorio Carmenates, Yaimara Gutierrez de la Cruz, Yadira Olivera Nodarse, Sonia Resik Aguirre, Vivian Kourí Cardellá, María Guadalupe Guzmán Tirado","doi":"10.1007/s00415-025-12908-5","DOIUrl":"https://doi.org/10.1007/s00415-025-12908-5","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"164"},"PeriodicalIF":4.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028936","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":"Cancer in multiple sclerosis patients following prolonged exposure to disease-modifying therapies (DMTs): a systematic review and meta-analysis.","authors":"Vasileios Giannopapas, Vassiliki Smyrni, Dimitrios K Kitsos, Maria Ioanna Stefanou, Aikaterini Theodorou, John S Tzartos, Georgios Tsivgoulis, Sotirios Giannopoulos","doi":"10.1007/s00415-024-12882-4","DOIUrl":"10.1007/s00415-024-12882-4","url":null,"abstract":"<p><strong>Introduction: </strong>The current literature on the prevalence and potential association between disease-modifying therapies (DMTs) and cancer risk in the MS population has yielded mixed findings.</p><p><strong>Methods: </strong>This study aimed to estimate cancer prevalence and cancer risk in patients with MS (PwMS) under prolonged DMT exposure. Database search include: MEDLINE PUBMED, SCOPUS, and Google Scholar.</p><p><strong>Results: </strong>A total of 13 studies involving 333,779 PwMS were included, reporting cancer events over periods ranging from 6 to 32 years. The aggregated pooled prevalence of cancer events in MS patients receiving disease-modifying therapies (DMTs) was 3.8% (95% CI 2.6, 5.2%), with substantial heterogeneity (I² = 99.7%, p = 0). Two studies compared cancer events in MS patients who received DMTs versus those who did not. The relative risk of cancer associated with DMTs was 0.8 (95% CI 0.59-1.31, I² = 93.6%, p = 0.53), indicating no significant increase in cancer risk due to DMTs. Breast and basal cell carcinomas had a high prevalence (18.4% and 11.3, respectively) in PwMS under DMTs.</p><p><strong>Conclusion: </strong>This study reports a 3.8% pooled prevalence of cancer in PwMS receiving DMTs. The findings of this study suggest that DMTs alone do not increase cancer risk in PwMS. Breast cancer and basal cell carcinoma had the highest prevalence among the different types of cancer.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"162"},"PeriodicalIF":4.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11757934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028823","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":"Comparisons of neurodegenerative disease biomarkers across different biological fluids from patients with Huntington's disease.","authors":"Alison R Bamford, Georgia M Parkin, Jody Corey-Bloom, Elizabeth A Thomas","doi":"10.1007/s00415-024-12785-4","DOIUrl":"10.1007/s00415-024-12785-4","url":null,"abstract":"<p><p>Fluid biomarkers play important roles in many aspects of neurodegenerative diseases, such as Huntington's disease (HD). However, a main question relates to how well levels of biomarkers measured in CSF are correlated with those measured in peripheral fluids, such as blood or saliva. In this study, we quantified levels of four neurodegenerative disease-related proteins, neurofilament light (NfL), total tau (t-tau), glial fibrillary acidic protein (GFAP) and YKL-40 in matched CSF, plasma and saliva samples from Huntingtin (HTT) gene-positive individuals (n = 21) using electrochemiluminescence assays. In addition, salivary levels of NfL, t-tau, and GFAP were quantified from a larger cohort (n = 95). We found both positive and negative correlations in the levels of these biomarkers among different biofluids. Most notably, in contrast to the significant positive correlations observed between CSF and plasma levels for NfL and GFAP, we detected significant negative correlations between the CSF and saliva levels of NfL and GFAP. With regard to clinical measures, both plasma and CSF levels of NfL were significantly positively correlated with Total Motor Score and chorea, whereas saliva levels of NfL showed significant correlations in the opposite direction. Additional correlations between salivary biomarkers with clinical data, adjusting for age, sex and CAG repeat length, confirmed that salivary NfL was significantly negatively associated with chorea scores in manifest HD, but not premanifest (PM), individuals. In contrast, salivary t-tau was positively associated with measures of cognition in PM participants. These findings suggest that salivary levels of NfL and t-tau proteins may exemplify non-invasive biomarkers for disease symptoms at different stages of illness. Further, these findings highlight the notion that different forms of disease proteins exist in different biological fluids.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 2","pages":"158"},"PeriodicalIF":4.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028913","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}