Journal of Neurology, Neurosurgery, and Psychiatry最新文献

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PACNS: biopsy positive, negative or nought? PACNS:活检阳性、阴性或无?
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-06-10 DOI: 10.1136/jnnp-2025-336655
William Powers
{"title":"PACNS: biopsy positive, negative or nought?","authors":"William Powers","doi":"10.1136/jnnp-2025-336655","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336655","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
CGRP increase in tear fluid of migraine patients is reversed by anti-CGRP monoclonal antibodies. 抗CGRP单克隆抗体可逆转偏头痛患者泪液中CGRP的升高。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-06-06 DOI: 10.1136/jnnp-2025-335868
Marina Romozzi, Lucia Di Nardo, Vincenzo Trigila, Giovanni Cuffaro, Gustavo Savino, Luigi Francesco Iannone, Stanislao Rizzo, Catello Vollono, Paolo Calabresi
{"title":"CGRP increase in tear fluid of migraine patients is reversed by anti-CGRP monoclonal antibodies.","authors":"Marina Romozzi, Lucia Di Nardo, Vincenzo Trigila, Giovanni Cuffaro, Gustavo Savino, Luigi Francesco Iannone, Stanislao Rizzo, Catello Vollono, Paolo Calabresi","doi":"10.1136/jnnp-2025-335868","DOIUrl":"https://doi.org/10.1136/jnnp-2025-335868","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Retinal imaging and tissue analysis for frontotemporal degeneration: recent advances and challenges for biomarker development. 额颞叶变性的视网膜成像和组织分析:生物标志物发展的最新进展和挑战。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-06-06 DOI: 10.1136/jnnp-2024-335723
Aaron T Zhao, Rohini M Nair, Edward B Lee, Katheryn A Q Cousins, David J Irwin, Benjamin J Kim
{"title":"Retinal imaging and tissue analysis for frontotemporal degeneration: recent advances and challenges for biomarker development.","authors":"Aaron T Zhao, Rohini M Nair, Edward B Lee, Katheryn A Q Cousins, David J Irwin, Benjamin J Kim","doi":"10.1136/jnnp-2024-335723","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335723","url":null,"abstract":"<p><p>Frontotemporal degeneration (FTD) is a group of neurodegenerative disorders affecting behaviour, language and executive functions. FTD is a common cause of early-onset dementia, but there are no FDA-approved treatments or established biomarkers for diagnosing and tracking these conditions, making early and accurate diagnosis challenging during life. Recent advances in retinal imaging, particularly through technologies like optical coherence tomography (OCT), have emerged as promising tools for identifying potential biomarkers for FTD and related neurodegenerative diseases. The retina, being an accessible extension of the central nervous system, has shown abnormalities that might serve as indicators of forms of FTD. Retinal imaging has revealed changes such as thinning of specific retinal layers that could correlate with molecular forms of FTD, Alzheimer's disease and other neurodegenerative diseases. These advances highlight the potential of retinal imaging to not only aid in diagnosis but also differentiate between various neurodegenerative conditions. Emerging data on retinal tissue analysis with immunohistochemistry and other techniques further support the potential of retinal biomarkers, though further studies are required to validate and refine these findings. Future advancements in retinal imaging technologies, along with longitudinal and autopsy-validated studies, are crucial for enhancing diagnostic capabilities and understanding FTD-related pathologies within the retina.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Stereotactic radiosurgery versus observation for intracranial low-grade dural arteriovenous fistulas. 立体定向放射手术治疗颅内低级别硬脑膜动静脉瘘的对比观察。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-06-06 DOI: 10.1136/jnnp-2024-335675
Andrea Becerril-Gaitan, Pedram Peesh, Collin Liu, Cheng-Chia Lee, Huai-Che Yang, Ajay Niranjan, Lawrence Dade Lunsford, Zhishuo Wei, Andrew Hoang, Jason Sheehan, Samantha Dayawansa, Selçuk Peker, Yavuz Samanci, Robert M Starke, Ahmed Abdelsalam, Douglas Kondziolka, Kenneth Bernstein, Ying Ming, Go Ikeda, Hideyuki Kano, Manjul Tripathi, Roman Liscak, Jaromir May, Qian Wang, Wen Li, Babu Welch, Jennifer O'Con, Sepideh Amin-Hanjani, Quang Nguyen, Guiseppe Lanzino, Waleed Brinjikji, Minako Hayakawa, Edgar Samaniego, Rose Du, Rosalind Lai, Colin Derdeyn, Adib Abla, Bradley Gross, Felipe Albuquerque, Michael Lawton, Louis Kim, Michael Levitt, Ali Alaraj, Ethan Winkler, Nohra Chalouhi, Brian Hoh, Diederik Bulters, Andrew Durnford, Junichiro Satomi, Yoshiteru Tada, Mark van Dijk, Adriaan R E Potgieser, Dimitri Laurent, Josh Osbun, Brigette Bahmani, Gregory Zipfel, Ching-Jen Chen
{"title":"Stereotactic radiosurgery versus observation for intracranial low-grade dural arteriovenous fistulas.","authors":"Andrea Becerril-Gaitan, Pedram Peesh, Collin Liu, Cheng-Chia Lee, Huai-Che Yang, Ajay Niranjan, Lawrence Dade Lunsford, Zhishuo Wei, Andrew Hoang, Jason Sheehan, Samantha Dayawansa, Selçuk Peker, Yavuz Samanci, Robert M Starke, Ahmed Abdelsalam, Douglas Kondziolka, Kenneth Bernstein, Ying Ming, Go Ikeda, Hideyuki Kano, Manjul Tripathi, Roman Liscak, Jaromir May, Qian Wang, Wen Li, Babu Welch, Jennifer O'Con, Sepideh Amin-Hanjani, Quang Nguyen, Guiseppe Lanzino, Waleed Brinjikji, Minako Hayakawa, Edgar Samaniego, Rose Du, Rosalind Lai, Colin Derdeyn, Adib Abla, Bradley Gross, Felipe Albuquerque, Michael Lawton, Louis Kim, Michael Levitt, Ali Alaraj, Ethan Winkler, Nohra Chalouhi, Brian Hoh, Diederik Bulters, Andrew Durnford, Junichiro Satomi, Yoshiteru Tada, Mark van Dijk, Adriaan R E Potgieser, Dimitri Laurent, Josh Osbun, Brigette Bahmani, Gregory Zipfel, Ching-Jen Chen","doi":"10.1136/jnnp-2024-335675","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335675","url":null,"abstract":"<p><strong>Background: </strong>Given the low haemorrhagic risk of intracranial low-grade dural arteriovenous fistulas (dAVFs), the benefits of routine intervention remain controversial. This study compares patient outcomes treated with stereotactic radiosurgery (SRS) versus conservative management.</p><p><strong>Method: </strong>Multicentre retrospective analysis of the Consortium for Dural Arteriovenous Fistula Outcomes Research and the International Radiosurgery Research Foundation data. Inclusion criteria were (1) intracranial low-grade dAVF diagnosed by catheter-based angiography, (2) no prior dAVF-related haemorrhage and (3) management with upfront SRS (intervention group) or conservative management (observation group). The primary outcome was symptomatic improvement. Secondary outcomes included dAVF obliteration, up-conversion, haemorrhage, improvement and favourable modified Rankin Scale (mRS) at follow-up.</p><p><strong>Results: </strong>304 patients with a mean age of 56 years (SD 13.5) and a follow-up of 46.7 months (SD 45.5) were included. 135 (44.4%) were managed conservatively and 169 (55.6%) had upfront SRS. Compared with the observation group, symptomatic and mRS Score improvement (≥1-point decrease in baseline score) was more likely in the intervention group (95.1% vs 58.5%; OR=13.75 (5.61-33.69) and 37.0% vs 24.0%; OR=1.85 (1.09-3.15), respectively). These findings remained significant after multiple imputation and propensity score matching. Remaining outcomes were similar between groups. The all-cause mortality rate was 5.4% (n=16), unrelated to the dAVF or treatment. Five (3.0%) SRS-related complications were reported and resolved during the follow-up period.</p><p><strong>Conclusions: </strong>SRS was associated with increased symptomatic and mRS Score improvement for low-grade dAVFs compared with conservative management. SRS had a low complication risk and did not appear to alter dAVF obliteration or haemorrhage. Future prospective trials on SRS as a first-line intervention for symptomatic low-grade dAVFs should be considered.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Comparative effectiveness of natalizumab and anti-CD20 monoclonal antibodies in relapsing-remitting multiple sclerosis: a real-world propensity-score matched study. natalizumab和抗cd20单克隆抗体在复发缓解型多发性硬化症中的比较有效性:一项真实世界倾向评分匹配研究
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-06-01 DOI: 10.1136/jnnp-2024-335704
Bassem Yamout, Raed Alroughani, Samar Frouk Ahmed Mohamed, Akram M Al-Mahdawi, Samia Joseph Khoury, Nabil El Ayoubi, Jihad Inshasi, Jabir Alkhaboori, Abdullah Al-Asmi, Riadh Gouider, Salman Aljarallah, Nuha Alkhawajah, Yaser Al Malik, Ahmad Abulaban, Seraj Makkawi, Osama Khojah, Taghrid El-Hajj, Joelle Massouh, Husam AlSalamat, Hani Dimassi, Amal Al-Hajje, Pascale Salameh, Farid Boumediene, Maya Zeineddine
{"title":"Comparative effectiveness of natalizumab and anti-CD20 monoclonal antibodies in relapsing-remitting multiple sclerosis: a real-world propensity-score matched study.","authors":"Bassem Yamout, Raed Alroughani, Samar Frouk Ahmed Mohamed, Akram M Al-Mahdawi, Samia Joseph Khoury, Nabil El Ayoubi, Jihad Inshasi, Jabir Alkhaboori, Abdullah Al-Asmi, Riadh Gouider, Salman Aljarallah, Nuha Alkhawajah, Yaser Al Malik, Ahmad Abulaban, Seraj Makkawi, Osama Khojah, Taghrid El-Hajj, Joelle Massouh, Husam AlSalamat, Hani Dimassi, Amal Al-Hajje, Pascale Salameh, Farid Boumediene, Maya Zeineddine","doi":"10.1136/jnnp-2024-335704","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335704","url":null,"abstract":"<p><strong>Background: </strong>Head-to-head randomised trials or real-world studies comparing the safety and efficacy of natalizumab and anti-CD20 monoclonal antibodies are limited. This study aimed to compare the effectiveness and safety of natalizumab versus ocrelizumab/rituximab in a real-world cohort of relapsing-remitting multiple sclerosis (RRMS) patients using data from the Middle East and North Africa Committee for the Treatment and Research in Multiple Sclerosis (MENACTRIMS) registry.</p><p><strong>Methods: </strong>This registry-based, retrospective, multicentre study was carried out in seven Middle Eastern countries by analysing data from the MENACTRIMS registry. All adults RRMS patients treated with natalizumab, rituximab or ocrelizumab and maintained on treatment for at least 12 months were included. Patients were matched using propensity scores. Primary outcomes were annualised relapse rate (ARR), confirmed disability progression and improvement and MRI activity.</p><p><strong>Results: </strong>A total of 1954 patients met the inclusion criteria, with 1277 receiving anti-CD20 therapy (768 on rituximab and 509 on ocrelizumab) and 677 natalizumab. Natalizumab significantly reduced ARR compared with anti-CD20 therapies (0.062 vs 0.092, p=0.001). Confirmed disability progression rates, MRI outcomes and no evidence of disease activity (NEDA-3) were similar between the two groups. However, natalizumab demonstrated higher rates of disability improvement compared with anti-CD20 therapies (9.3% vs 5.5%, p=0.03). Adverse events were more frequent in the anti-CD20 group (36.4% vs 27.5% for natalizumab, p=0.001).</p><p><strong>Conclusion: </strong>In this large, real-world cohort, natalizumab was associated with lower ARR, greater likelihood of disability improvement, lesser adverse events, but lower persistence compared with anti-CD20 therapies. These findings provide valuable insights into the comparative efficacy and safety of these RRMS therapies, aiding clinicians in personalised treatment decisions.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy. 家族性亚临床亚历山大病的自我沉默GFAP错义等位基因:对治疗的影响
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-05-30 DOI: 10.1136/jnnp-2025-335863
Tiziana Bachetti, Stefania Magri, Francesca Balistreri, Francesca Rosamilia, Simona Coco, Camillo Rosano, Marco Moscatelli, Elisa Sarto, Daniela Di Bella, Ettore Salsano, Isabella Ceccherini, Franco Taroni
{"title":"Self-silencing <i>GFAP</i> missense alleles in familial subclinical Alexander disease: implications for therapy.","authors":"Tiziana Bachetti, Stefania Magri, Francesca Balistreri, Francesca Rosamilia, Simona Coco, Camillo Rosano, Marco Moscatelli, Elisa Sarto, Daniela Di Bella, Ettore Salsano, Isabella Ceccherini, Franco Taroni","doi":"10.1136/jnnp-2025-335863","DOIUrl":"https://doi.org/10.1136/jnnp-2025-335863","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Comorbidities, safety and persistence in phase III clinical trials in multiple sclerosis. 多发性硬化症III期临床试验的合并症、安全性和持久性
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-05-24 DOI: 10.1136/jnnp-2024-335710
Amber Salter, Samantha Lancia, Kaarina Kowalec, Kathryn Fitzgerald, Ruth Ann Marrie
{"title":"Comorbidities, safety and persistence in phase III clinical trials in multiple sclerosis.","authors":"Amber Salter, Samantha Lancia, Kaarina Kowalec, Kathryn Fitzgerald, Ruth Ann Marrie","doi":"10.1136/jnnp-2024-335710","DOIUrl":"https://doi.org/10.1136/jnnp-2024-335710","url":null,"abstract":"<p><strong>Background: </strong>Associations between comorbidity and reduced persistence to disease-modifying therapies (DMTs) in multiple sclerosis (MS) have been identified. Limited information is available regarding the association of comorbidity with safety outcomes. The study objective was to evaluate the association of comorbidities with safety outcomes and persistence.</p><p><strong>Methods: </strong>We conducted a two-stage meta-analysis of individual participant data from phase III clinical trials of MS DMTs. Individual comorbidities and comorbidity burden, defined as the sum of all comorbidities (n=15), were examined. Safety outcomes, defined using adverse event (AE) data, were reviewed to identify specific AEs of interest, including infection; treatment-emergent autoimmune disease; cancer; elevated transaminases and lymphopenia. We also examined any early trial discontinuation.</p><p><strong>Results: </strong>We included 17 clinical trials representing 16 794 MS participants. Over a 2-year follow-up, the pooled proportion of AEs was 64% (95% CI 59.4% to 68.9%) and the majority were infection AEs. Increasing comorbidity burden was associated with an increased rate of AEs (rate ratio (95% CI) 1: 1.13 (1.09 to 1.17); 2: 1.19 (1.14 to 1.23); ≥3: 1.25 (1.18 to 1.33)) compared with those with no comorbidity. When pooled across trials, early discontinuation affected 17% of participants (95% CI 13.8% to 20.9%). A higher risk of trial discontinuation was associated with higher comorbidity burden (2: 1.23 (1.07 to 1.42); ≥3: 1.19 (1.01 to 1.40)) compared with those with no comorbidity. Psychiatric disorders were associated with trial discontinuation.</p><p><strong>Conclusions: </strong>Higher comorbidity burden is associated with increased risk of experiencing safety outcomes and early DMT discontinuation among individuals with MS enrolled in clinical trials of MS-DMTs, highlighting the important role of comorbidities in the safety and persistence of DMTs.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Assessment of neuronal and glial serum biomarkers in myelin oligodendrocyte glycoprotein antibody-associated disease: the MULTIMOGAD study. 髓鞘少突胶质细胞糖蛋白抗体相关疾病中神经元和胶质血清生物标志物的评估:MULTIMOGAD研究
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-05-16 DOI: 10.1136/jnnp-2024-335137
Romain Marignier, Javier Villacieros-Álvarez, Carmen Espejo, Georgin Arrambide, Nicolás Fissolo, Lucía Gutiérrez, Alessandro Dinoto, Patricia Mulero, Laura Rubio-Flores, Pablo Nieto, Carmen Alcalá, Jose E Meca-Lallana, Pedro Martínez-Garcia, Jorge Millán, Raphaël Bernard-Valnet, Inés González, Aida Orvíz García, Raquel Tellez, Laura Navarro, Silvia Presas-Rodríguez, Lucía Romero-Pinel, Sergio Martínez-Yélamos, Juan Pablo Cuello, Ana Maria Alonso Torres, Raquel Piñar, Gary Álvarez Bravo, Lakhdar Benyahya, Sophie Trouillet-Assant, Virginie Dyon-Tafani, Caroline Froment Tilikete, Aurelie Ruet, Bertrand Bourre, Romain Deschamps, Caroline Papeix, Elisabeth Maillart, Philippe Kerschen, Xavier Ayrignac, Alex Rovira, Cristina Auger, Bertrand Audoin, Xavier Montalban, Mar Tintore, Sara Mariotto, Alvaro Cobo-Calvo
{"title":"Assessment of neuronal and glial serum biomarkers in myelin oligodendrocyte glycoprotein antibody-associated disease: the MULTIMOGAD study.","authors":"Romain Marignier, Javier Villacieros-Álvarez, Carmen Espejo, Georgin Arrambide, Nicolás Fissolo, Lucía Gutiérrez, Alessandro Dinoto, Patricia Mulero, Laura Rubio-Flores, Pablo Nieto, Carmen Alcalá, Jose E Meca-Lallana, Pedro Martínez-Garcia, Jorge Millán, Raphaël Bernard-Valnet, Inés González, Aida Orvíz García, Raquel Tellez, Laura Navarro, Silvia Presas-Rodríguez, Lucía Romero-Pinel, Sergio Martínez-Yélamos, Juan Pablo Cuello, Ana Maria Alonso Torres, Raquel Piñar, Gary Álvarez Bravo, Lakhdar Benyahya, Sophie Trouillet-Assant, Virginie Dyon-Tafani, Caroline Froment Tilikete, Aurelie Ruet, Bertrand Bourre, Romain Deschamps, Caroline Papeix, Elisabeth Maillart, Philippe Kerschen, Xavier Ayrignac, Alex Rovira, Cristina Auger, Bertrand Audoin, Xavier Montalban, Mar Tintore, Sara Mariotto, Alvaro Cobo-Calvo","doi":"10.1136/jnnp-2024-335137","DOIUrl":"10.1136/jnnp-2024-335137","url":null,"abstract":"<p><strong>Background: </strong>Serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) have emerged as important biomarkers in multiple sclerosis (MS) and aquaporin-4 seropositive neuromyelitis optica spectrum disorder (AQP4-NMOSD). However, their interest in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) remains unclear. Our aim was to characterise sNfL and sGFAP profile and analyse their usefulness in predicting relapses and disability in MOGAD.</p><p><strong>Methods: </strong>Retrospective study of adult MOGAD patients with serum samples collected at baseline (≤3 months from disease onset) and follow-up (>6 months from baseline sample). sNfL and sGFAP were analysed using Simoa HD-1, and values were compared across time-points. The association between biomarkers and clinical variables and their predictive value for disability and relapses were analysed.</p><p><strong>Results: </strong>Eighty-nine MOGAD patients were included. Baseline sNfL and sGFAP values were high at baseline and decreased over time (p<0.001, p=0.027, respectively). sNfL and sGFAP values were associated with Expanded Disability Status Scale (EDSS) at attacks (β 0.15 (0.06; 0.25), p=0.002; β 0.14 (0.07; 0.21), p<0.001, respectively) and were lower in optic neuritis presentations (β -0.69 (-1.18; -0.19), p=0.007; β -0.42 (-0.76; -0.08), p=0.016). Biomarker deltas[Δ] (baseline values - second samples values) were associated with ΔEDSS (initial EDSS - final EDSS) (ΔsNfL β 0.52 (0.01; 1.04), p=0.046; ΔsGFAP β 1.07 (0.38; 1.75), p=0.003). Finally, sNfL values independently predicted the risk of relapses (HR 2.06 (1.41; 3.01), p<0.001).</p><p><strong>Conclusions: </strong>Our results on sNfL and sGFAP suggest initial neuro-axonal and astrocytic damage in MOGAD and the utility of these biomarkers at onset and follow-up in predicting clinical recovery and relapses.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143408649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Progression and life expectancy in primary lateral sclerosis. 原发性侧索硬化的进展和预期寿命。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-05-16 DOI: 10.1136/jnnp-2025-336037
David G Lester, Alexander G Thompson, Kevin Talbot, Martin R Turner
{"title":"Progression and life expectancy in primary lateral sclerosis.","authors":"David G Lester, Alexander G Thompson, Kevin Talbot, Martin R Turner","doi":"10.1136/jnnp-2025-336037","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336037","url":null,"abstract":"<p><strong>Objectives: </strong>To characterise the clinical characteristics and longitudinal outcomes in primary lateral sclerosis (PLS), including median survival from symptom onset and age at death.</p><p><strong>Methods: </strong>The authors retrospectively reviewed electronic health records of patients diagnosed with PLS referred to a specialised motor neuron disorders clinic from 2002 to 2024, analysed longitudinal Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) assessments using joint models and used Kaplan-Meier methods and life tables to calculate median survival and age at death compared with population-based values.</p><p><strong>Results: </strong>Of 52 patients, 34 (65%) were male, 41 (79%) first noted symptoms in the lower limbs and 10 (19%) in corticobulbar function. Median age of symptom onset was 53 years. The mean annual rate of functional decline was -1.92 ALSFRS-R points (95% CI -3.03 to -0.78), with equal highest rates of decline in fine and gross motor subscores. Five patients (10%) received gastrostomy and three (6%) non-invasive ventilation. Median survival from symptom onset was 23.1 years (22.7 to not reached), and median age at death was 79.5 years (77.8 to not reached) compared with a population-based reference mean of 81.9 years (81.1 to 82.8).</p><p><strong>Discussion: </strong>PLS may be commensurate with near-normal life expectancy. Significant disability arises from limb motor dysfunction, with a minority of patients requiring nutritional or respiratory support. This has important implications for counselling and trial design.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Plasma CHI3L1 associates with brain volume loss and glial activation in multiple sclerosis. 血浆CHI3L1与多发性硬化症患者脑容量减少和神经胶质活化有关。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-05-16 DOI: 10.1136/jnnp-2025-336063
Venla Ahola, Maija Saraste, Marjo Nylund, Markus Matilainen, Amelie Luoma, Anna Vuorimaa, Jussi Lehto, Sini Laaksonen, Eeva-Christine Brockmann, Jens Kuhle, David Leppert, Tero Soukka, Urpo Lamminmäki, Laura Airas
{"title":"Plasma CHI3L1 associates with brain volume loss and glial activation in multiple sclerosis.","authors":"Venla Ahola, Maija Saraste, Marjo Nylund, Markus Matilainen, Amelie Luoma, Anna Vuorimaa, Jussi Lehto, Sini Laaksonen, Eeva-Christine Brockmann, Jens Kuhle, David Leppert, Tero Soukka, Urpo Lamminmäki, Laura Airas","doi":"10.1136/jnnp-2025-336063","DOIUrl":"https://doi.org/10.1136/jnnp-2025-336063","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) progression independent of relapses is driven by brain innate immune cell activation. The aim of this study was to evaluate the association between chitinase-3-like protein 1 (CHI3L1), expressed in brain by astrocytes and microglia, measured from blood and smouldering inflammation measured using 18 kDa translocator protein (TSPO) positron emission tomography (PET) in patients with MS.</p><p><strong>Methods: </strong>The study cohort included 55 patients with MS (25 progressive MS (PMS) and 30 relapsing remitting MS (RRMS)) and 17 healthy controls (HC). CHI3L1 was measured with commercial ELISA from plasma samples. A subcohort (44 MS and 9 HC) underwent TSPO-PET to assess [<sup>11</sup>C]PK11195 distribution volume ratio (DVR) and MRI concurrent to blood sampling. These imaging outcomes were used in respective correlation and linear regression analyses.</p><p><strong>Results: </strong>CHI3L1 concentration in plasma was higher in PMS (23.5 ng/mL) compared with HC (16.8 ng/mL, p=0.0055) and RRMS (19.3 ng/mL, p=0.049). CHI3L1 associated with brain [<sup>11</sup>C]PK11195 DVR in all MS (standardised estimate 0.89, 95% CI 0.23 to 1.55, p=0.010) and in PMS (Spearman correlation ρ=0.58, 95% CI 0.058 to 0.86, p=0.032). Additionally, CHI3L1 was associated with smaller brain volume in both MS (-0.75, -1.38 to -0.11, p=0.023) and PMS (ρ=-0.56, -0.83 to -0.095, p=0.021). Furthermore, CHI3L1 was associated with Expanded Disability Status Scale (0.70, 0.12 to 1.28, p=0.019) and age (0.93, 0.37 to 1.48, p=0.002) among all patients with MS.</p><p><strong>Conclusions: </strong>Association of CHI3L1 with glial activation and brain volume loss identifies plasma CHI3L1 as a promising biomarker for smouldering inflammation and MS progression-related pathology.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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