Neurology® Neuroimmunology & Neuroinflammation最新文献

{"title":"Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case Report.","authors":"Tiffany Hu, Javier Rodriguez, Lara L Zimmermann, Ryan Martin, Krupa Savalia, Anh P Nguyen, Han Lee, Joseph J Shen, Robyn Stoianovici, Mary Karalius, Sukhman Sidhu, Chloe Gerungan, Ariane Soldatos, Jeffrey M Gelfand, Michael R Wilson, Jeffrey R Vitt","doi":"10.1212/NXI.0000000000200475","DOIUrl":"10.1212/NXI.0000000000200475","url":null,"abstract":"<p><strong>Objectives: </strong>Complement factor I (CFI) deficiency is a rare condition that can present with fulminant relapsing CNS autoinflammation. In this report, we highlight the utility of genetic testing in unexplained CNS autoinflammation.</p><p><strong>Methods: </strong>This case report describes a young adult with partial CFI deficiency, presenting with acute hemorrhagic leukoencephalitis and longitudinally extensive transverse myelitis.</p><p><strong>Results: </strong>In this case of unexplained CNS autoinflammation, in-hospital whole-genome sequencing and complement testing revealed partial CFI deficiency. CSF profiling during flares showed increased neutrophils and proinflammatory cytokines. CSF gene expression profiling more closely aligned with cases of bacterial meningitis than autoimmune encephalitis, consistent with innate immune system hyperactivity. Emergent IL-1 receptor antagonism led to sustained suppression of further immunologic attacks.</p><p><strong>Discussion: </strong>Our case describes a presentation of CFI deficiency with fulminant and relapsing CNS autoinflammation. These flares were temporally associated with infections, which we hypothesize triggered innate immune overactivity due to CFI deficiency. Treatment with an IL-1 receptor antagonist, anakinra, suppressed further attacks and enabled neurologic recovery in a syndrome that is almost uniformly fatal. This case highlights the diagnostic value of inpatient genetic testing in cases of unexplained neuroinflammation and proposes targeted suppressive treatment to reduce neurologic deterioration.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200475"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12424073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Hemorrhagic Leukoencephalitis With Active Hepatitis B Virus Infection: A Case Report.","authors":"Shivam Mirg, Jasmine Parihar, Manjari Tripathi, Deepti Vibha, Rajesh Kumar Singh, Arunmozhimaran Elavarasi, Animesh Das, Ajay Garg, Megha Brijwal, Mehar Chand Sharma","doi":"10.1212/NXI.0000000000200487","DOIUrl":"10.1212/NXI.0000000000200487","url":null,"abstract":"<p><p>CNS involvement in hepatitis B virus (HBV) infection is rare. We report a 27-year-old woman with HBV infection presenting with headaches and seizures, whose imaging and brain biopsy confirmed acute hemorrhagic leukoencephalitis. She responded well to steroid and tenofovir therapy.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200487"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spironolactone Targets Retinoid X Receptor γ to Promote Myelin Sheath Regeneration.","authors":"Qing-Qing Sun, Ruo-Song Ai, Na-Nan Chai, Bing Han, Ming-Yue Bao, Yue-Bo Li, Gai-Xin Ma, Li-Juan Wang, Zhao-Qiang Qian, Xing Li, Yuan Zhang","doi":"10.1212/NXI.0000000000200500","DOIUrl":"10.1212/NXI.0000000000200500","url":null,"abstract":"<p><strong>Background and objectives: </strong>Demyelinating diseases are neurologic disorders characterized by the loss of the myelin sheath and impaired regeneration. Retinoid X receptor γ (RXRγ) is a member of the nuclear receptor superfamily and plays a crucial role in oligodendrocyte biology and myelin formation. However, the clinical application of drugs targeting RXRγ for demyelinating diseases is limited. Selecting small-molecule drugs approved by the U.S. Food and Drug Administration (FDA) that have high binding activity to RXRγ may be an effective strategy for treating demyelinating disorders.</p><p><strong>Methods: </strong>We used an online molecular docking tool to predict that spironolactone (SPIR), an FDA-approved drug, displays strong binding activity to RXRγ. Subsequently, we verified the impact of SPIR on oligodendrocyte precursor cell (OPC) differentiation and myelin sheath formation through in vitro OPC culture and pharmacologic experiments in mice. Furthermore, using genetic models with CRISPR-LSL-Cas9, we confirmed that the effect of SPIR on OPCs relies on RXRγ.</p><p><strong>Results: </strong>In this study, we identified that SPIR, an FDA-approved drug, functions as an RXRγ agonist in OPCs. RXRγ was identified as a crucial factor of myelin production. Its activation promotes the differentiation of OPCs and enhances myelin generation. We confirmed the specificity of SPIR's target, demonstrating that SPIR facilitates OPC differentiation and myelin generation in a RXRγ-dependent manner. Our findings not only identify the RXRγ agonist to promote OPC differentiation but also provide new experimental evidence for expanding the clinical indications of SPIR.</p><p><strong>Discussion: </strong>The promotion of OPC differentiation by SPIR in animal models suggests its potential for treating demyelinating diseases.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200500"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum Neurofilament Light Chain Correlates With Clinical Severity and Predicts Mortality in Anti-IgLON5 Disease.","authors":"Antonio Farina, Macarena Villagrán-García, Amna Abichou-Klich, Marie Benaiteau, Emilien Bernard, Françoise Bouhour, Virginie Desestret, Bastien Joubert, Geraldine Picard, Anne-Laurie Pinto, Lea Pons, Krzysztof Smolik, Stephane Thobois, Sophie Trouillet-Assant, Jerome Honnorat","doi":"10.1212/NXI.0000000000200498","DOIUrl":"10.1212/NXI.0000000000200498","url":null,"abstract":"<p><strong>Background and objectives: </strong>Anti-IgLON5 disease manifests by various neurologic symptoms, the severity of which can be evaluated using the anti-IgLON5 composite score (ICS). This study assessed the correlation of neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) with the ICS and investigated these biomarkers as predictors of long-term clinical severity and mortality in anti-IgLON5 disease.</p><p><strong>Methods: </strong>Patients diagnosed with anti-IgLON5 disease at a national reference center (2016-2024) with available serum and CSF samples were included. NfL and GFAP concentrations were measured in these samples using Simoa assay Neurology 2-Plex B Kit. The severity of symptoms was classified according to the ICS, which was retrospectively evaluated at diagnosis, at last clinical evaluation, and at any other timepoint when samples were collected.</p><p><strong>Results: </strong>Thirty patients (60% male, median age 72 years) were included. Serum NfL concentration was significantly correlated with the total ICS (rho = 0.38, <i>p</i> = 0.025) and its partial bulbar score (rho = 0.39, <i>p</i> = 0.020); serum GFAP concentration was significantly correlated only with the bulbar ICS (rho = 0.34, <i>p</i> = 0.044). CSF NfL and GFAP concentrations were not significantly correlated with the total ICS nor any of its partial scores. Anti-IgLON5 antibody CSF titers, but not serum titers, showed a significant inverse correlation with the total ICS (rho = -0.44, <i>p = 0.04</i>). In 26 patients sampled <4 months after diagnosis, neither NfL nor GFAP predicted the total or partial ICS at last clinical evaluation (median 18 months after diagnosis), but serum NfL increased the risk of 1-year mortality independently of age (hazard ratio for each 10 pg/mL increase: 2.05, 95% CI [1.21-3.45], <i>p</i> = 0.007). In patients with bulbar involvement (n = 22), serum NfL concentration was lower than in 10 controls with bulbar amyotrophic lateral sclerosis (median interquartile range [IQR] 26 pg/mL [21-51] vs 158 pg/mL [100-340], <i>p</i> < 0.001) and higher than in 10 controls with bulbar myasthenia gravis (median [IQR] 15 pg/mL [8-26], <i>p</i> = 0.040).</p><p><strong>Discussion: </strong>In anti-IgLON5 disease, serum NfL and GFAP are elevated and correlate with the clinical severity, especially of bulbar symptoms. In clinical practice, serum NfL could be useful for disease monitoring and to predict the risk of death.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200498"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stool Glial Fibrillary Acidic Protein Is Elevated in Progressive Multiple Sclerosis.","authors":"Luke A Schwerdtfeger, Federico Montini, Martina Antonini Cencicchio, Jonathan R Christenson, Bonnie I Glanz, Marika Falcone, Massimo Filippi, Laura M Cox, Tanuja Chitnis, Howard L Weiner","doi":"10.1212/NXI.0000000000200466","DOIUrl":"https://doi.org/10.1212/NXI.0000000000200466","url":null,"abstract":"<p><strong>Objectives: </strong>The gut microbiota and altered intestinal physiology have been implicated in multiple sclerosis (MS). Enteric glial cells regulate enteric nervous and immune function and express glial fibrillary acidic protein (GFAP) and S100β. Serum GFAP and neurofilament light chain can predict disease worsening; however, no clear markers differentiate relapsing from progressive disease.</p><p><strong>Methods: </strong>To investigate enteric glial function in MS, we measured stool GFAP (st-GFAP) using an enzyme-linked immunosorbent assay in 31 healthy controls (HCs), 77 patients with relapsing remitting MS (RRMS), and 53 patients with progressive MS (ProgMS). Participants underwent clinical follow-up at 2 and 5 years after stool donation.</p><p><strong>Results: </strong>We found higher st-GFAP levels in patients with ProgMS compared with those with RRMS and HCs. St-GFAP was positively correlated with baseline Expanded Disability Status Scale (EDSS) score, 25-foot walk time, and an increased EDSS score at 2 and 5 years. We found enteric glial hyperplasia in the colonic mucosa of a patient with primary progressive MS, as indicated by GFAP and S100β immunoreactivity, an effect not observed in duodenum tissue in patients with RRMS from our Milan cohort. St-GFAP in patients with ProgMS was negatively associated with <i>Eubacterium hallii</i>.</p><p><strong>Discussion: </strong>These exploratory data indicate an altered enteric glial phenotype in patients with ProgMS and suggest that st-GFAP may be a prognostic biomarker.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200466"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12396743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Applying the Supporting Features for MOGAD Diagnosis to Patients With Multiple Sclerosis.","authors":"Pietro Zara, Giacomo Greco, Francesco Masi, Stefania Leoni, Valentina Floris, Sabrine Othmani, M Margherita Sechi, Sara Carta, Eduardo Caverzasi, Anna Pichiecchio, Stefano Sotgiu, Paolo Solla, Elena Colombo, Rosa Cortese, Sara Mariotto, Matteo Gastaldi, Elia Sechi","doi":"10.1212/NXI.0000000000200503","DOIUrl":"10.1212/NXI.0000000000200503","url":null,"abstract":"<p><strong>Background and objectives: </strong>In the 2023 diagnostic criteria, supporting clinical/MRI features are required to diagnose myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in patients at high risk of false MOG-IgG positivity (low/unavailable titer, cerebrospinal fluid-restricted), to help differentiation from multiple sclerosis (MS). However, overlap is possible and determining the frequency of the MOGAD supporting features at MS onset may help prevent misdiagnosis. We assessed the frequency of the MOGAD supporting features and potential risk of misdiagnosis at first attack of MS/clinically isolated syndrome (CIS).</p><p><strong>Methods: </strong>In this observational study, we retrospectively identified consecutive patients hospitalized between 2021 and 2024 at 2 Italian centers, with: (1) relapsing-remitting MS/CIS, and (2) first attack MRI available. The frequency of the MOGAD supporting features was assessed at MS/CIS presentation, and potential risk of misdiagnosis determined based on the probability of concurrent false MOG-IgG positivity. Other clinical-MRI features typical of MOGAD but not included in the 2023 diagnostic criteria were also evaluated.</p><p><strong>Results: </strong>A total of 244 patients with MS/CIS were included (median age, 34 [range, 13-78] years; 66% were female). Overall, 65/244 (27%) patients with MS/CIS showed at least 1 MOGAD supporting feature during the presenting attack. \"Central cord lesion\" (27/82 [33%]) and \"deep gray nuclei involvement\" (24/86 [28%]) were more represented than other supporting features (0%-7%); <i>p</i> < 0.001. MOG-IgG was tested in 207/244 (85%) patients, showing false positivity in 3 (1.4%) patients. The combined probability of detecting a false MOG-IgG positivity and meeting 1 of the MOGAD supporting features was 0.4%. Among other typical MOGAD features not included in the diagnostic criteria, the following had a 0% frequency at MS/CIS presentation: (1) encephalopathy, (2) marked CSF pleocytosis (>50 cells/mm³), (3) wheelchair need during myelitis, and (4) MRI T2-lesion resolution postattack.</p><p><strong>Discussion: </strong>Although the MOGAD supporting features can be met in one-fourth of patients at MS/CIS presentation, the risk of misdiagnosis in similar unselected cohorts remains low. Future refinements of the MOGAD supporting features should take into account their relative frequency in MS/CIS and possible integration with additional clinical-MRI features that are more specific for MOGAD.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200503"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12509963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145252115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inflammatory Cytokine Signatures Are Associated With Disease Burden and Comorbidity of Episodic Migraine and Endometriosis.","authors":"Maria Albanese, Veronica Ceci, Giulia Carrera, Aikaterini Selntigia, Caterina Exacoustos, Marta Tiberi, Stefano Saracini, Alessandro Matteocci, Nicola Biagio Mercuri, Valerio Chiurchiù","doi":"10.1212/NXI.0000000000200490","DOIUrl":"10.1212/NXI.0000000000200490","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to characterize inflammatory cytokine profiles in women diagnosed with episodic migraine, endometriosis, or both conditions and to determine how these cytokine patterns relate to symptom severity and functional impact, to identify potential biological markers distinguishing comorbid cases from single-diagnosis cases.</p><p><strong>Methods: </strong>Female patients with only episodic migraine, only endometriosis, or both conditions were enrolled. Plasma levels of proinflammatory cytokines were measured, and correlations with clinical parameters were analyzed.</p><p><strong>Results: </strong>Women with episodic migraine had elevated levels of IL-1β, IL-6, and TNF-α compared with healthy controls, with even higher levels in those with both migraine and endometriosis, indicating a synergistic effect on systemic inflammation. IL-1β correlated with headache frequency and disability while IL-6 and TNF-α were linked to migraine severity and pain. Women with endometriosis alone did not show similar cytokine elevations, suggesting that inflammation is particularly amplified in comorbidity. Changes in leukocyte distribution further supported a unique immune activation profile in the comorbid group.</p><p><strong>Discussion: </strong>These findings reveal novel biological evidence of a shared inflammatory endotype in women suffering from both conditions, which may contribute to the increased burden and comorbidity, highlighting the need for integrative diagnostic and management approaches.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200490"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12501880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145225694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extracellular Vesicles as Novel Biomarkers for Tumor Association in Intermediate-Risk Paraneoplastic Neurologic Syndromes.","authors":"Gabriel Torres Iglesias, Alba Chavarría-Miranda, MariPaz López-Molina, Carlos Del Fresno, Pablo Mata-Martínez, Pilar Nozal, Juan Luis Chico-Garcia, Mireya Fernández-Fournier, Laura Lacruz Ballester, Darío Sanchez, Ana Montero-Calle, Rodrigo Barderas, Susana Bravo, Inmaculada Puertas, Elisa York, Exuperio Díez-Tejedor, María Gutiérrez-Fernández, Laura Otero-Ortega","doi":"10.1212/NXI.0000000000200483","DOIUrl":"https://doi.org/10.1212/NXI.0000000000200483","url":null,"abstract":"<p><strong>Background and objectives: </strong>Paraneoplastic neurologic syndromes (PNS) are cancer-related neurologic disorders caused by an autoimmune response targeting both the tumor and the nervous system. Identifying new biomarkers for early cancer detection could improve treatment outcomes. Tumor-derived cells release extracellular vesicles (EVs) carrying tumor-specific molecular signatures, which can help distinguish patients with cancer even in early stages. The aim of this study was to assess the potential of EVs as biomarkers to enhance cancer detection in patients with PNS.</p><p><strong>Methods: </strong>This observational and multicenter study included 27 patients with tumor-associated PNS, 26 with suspected PNS without a tumor, 35 with cancer, and 32 healthy controls. Subsequently, among the patients with PNS, individuals were subclassified according to the PNS-Care Score as definite, probable, possible, and non-PNS. Total EVs were isolated from blood by precipitation and from B cells, T cells, and neurons by immunoisolation. To identify a biomarker for diagnostic refinement and clinical stratification, EV levels, size, and protein content were compared across study groups. To find a tumor biomarker in intermediate-risk cases, the possible association between EV protein content and cancer detection in intermediate-risk syndromes was analyzed.</p><p><strong>Results: </strong>Patients with tumor-associated PNS showed significantly higher circulating EV levels compared with those with suspected PNS without evidence of a tumor (<i>p</i> = 0.028). Moreover, total EV levels, along with B cell-derived EVs, effectively differentiated patients with definite PNS from those with probable (<i>p</i> = 0.05) and possible (<i>p</i> = 0.006) PNS. A cutoff value of 2.10 × 10¹⁰ particles/mL EVs was identified, above which diagnosis of PNS was definite, with 86% sensitivity and 81% specificity. Proteomic analysis identified specific proteins, including ACADM, HPT, ACTBL, and CCAR2, as markers of definite PNS, differentiating such patients from those with probable and possible PNS, contributing to diagnostic refinement for clinical stratification. It is important to note that increased levels of EVs and CD44 distinguished intermediate-risk cases with tumors from those without.</p><p><strong>Discussion: </strong>EVs may act as tumor biomarkers in patients with PNS, even in intermediate-risk cases.</p><p><strong>Classification of evidence: </strong>This study provides Class IV evidence that higher circulating blood levels of EVs can distinguish between tumor-associated PNS from suspected PNS without tumor.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200483"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145275458","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}

{"title":"Influence of OSCAR-IB Criteria on Test-Retest Reliability of Cirrus HD-OCT Retinal Thickness Measurements in People With Multiple Sclerosis.","authors":"Anna Bacchetti, Ting-Yi Lin, Brenna McCormack, Omar Ezzedin, Rozita Doosti, Gelareh Ahmadi, Nicole Pellegrini, Evan Johnson, Simidele Davis, Elle Lawrence, Gabriel Otero-Duran, Ernest Lievers, Madeline Inserra, Sooyeon Park, Devon Bonair, Anna Kim, Ananya Gulati, Kathryn C Fitzgerald, Elias S Sotirchos, Peter A Calabresi, Shiv Saidha","doi":"10.1212/NXI.0000000000200458","DOIUrl":"https://doi.org/10.1212/NXI.0000000000200458","url":null,"abstract":"<p><strong>Background and objectives: </strong>Optical coherence tomography (OCT) allows evaluation of inter-eye differences (IEDs) in macular ganglion cell-inner plexiform layer (GCIPL) and peripapillary retinal nerve fiber layer (pRNFL) thicknesses to identify unilateral optic nerve involvement (UONI). UONI supports dissemination in space (DIS) as part of the 2024 revised McDonald diagnostic criteria for multiple sclerosis (MS). The OSCAR-IB quality control (QC) criteria identify suboptimal-quality OCT scans, which could potentially result in false-positive or false-negative UONI identification. We aimed to determine the influence of scans fulfilling OSCAR-IB criteria (SFO) and not fulfilling (SNFO) on test-retest reliability of pRNFL and GCIPL thicknesses/IEDs, with a commonly used OCT platform (Cirrus HD-OCT).</p><p><strong>Methods: </strong>A total of 509 participants, including 397 people with MS, underwent Cirrus HD-OCT, with acquisition of 2 macular and optic disc scans per eye. Each scan was classified as either SFO or SNFO. There were no clinical or demographic exclusions in order to reflect a real-world clinical setting. Reproducibility was evaluated with intravisit intraclass correlation coefficients (ICCs) and coefficients of variation (COVs). IED consistency was assessed with difference-in-differences (DiDs) and probabilities of agreement (POA) for specific IED thresholds (GCIPL </≥4; pRNFL </≥6 μm).</p><p><strong>Results: </strong>A total of 1,143 macular scan pairs (1,100 SFO and 42 SNFO) for GCIPL and 1,108 optic disc scan pairs (1,003 SFO and 105 SNFO) for pRNFL were analyzed. SFO demonstrated superior reliability, as compared to SNFO for GCIPL (SFO: ICC = 0.998, COV = 0.40%; SNFO: ICC 0.353, COV 10.14%) and pRNFL (SFO: ICC = 0.989, COV = 1.18%; SNFO: ICC = 0.852, COV = 3.94%) thicknesses. DiDs were lower for SFO (GCIPL 0.64 ± 0.67 μm, pRNFL: 2.00 ± 1.72 μm), as compared to SNFO (GCIPL: 10.17 ± 13.87 μm, pRNFL: 4.78 ± 5.51 μm). POA of IED thresholds (GCIPL: </≥4; pRNFL: </≥6 μm) was higher for SFO than for SNFO (GCIPL: 95.58% vs 47.83%; pRNFL: 86.89% vs 71.67%).</p><p><strong>Discussion: </strong>GCIPL and pRNFL thicknesses/IEDs demonstrated markedly inferior reliability in SNFO, relative to SFO. Failure to fulfill OSCAR-IB criteria influenced pRNFL measurements and, in particular, GCIPL measurements, highlighting the importance of thorough QC in the interpretation of OCT to correctly identify UONI and accurately support DIS for the diagnosis of MS.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200458"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144963280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence, Etiology, and Long-Term Outcome of Acute Myelitis in Stockholm County, Sweden: A Population-Based Study.","authors":"Dagur Ingi Jonsson, Olafur Sveinsson, Nina Moeini, Emir Pivac, Karin Wirdefeldt, Lou Brundin, Ellen Iacobaeus","doi":"10.1212/NXI.0000000000200472","DOIUrl":"10.1212/NXI.0000000000200472","url":null,"abstract":"<p><strong>Background and objectives: </strong>Myelitis is a relatively common clinical entity for neurologists, with diverse underlying causes. The aim of this study was to describe the incidence of myelitis, its causes, clinical presentation, and factors predicting functional outcomes and relapses.</p><p><strong>Methods: </strong>Using the Swedish National Patient Registry, we identified all adult patients in Stockholm County between 2008 and 2018 using International Classification of Diseases, 10th Edition (ICD-10) codes likely to include myelitis. We collected medical records and classified patients using a modification of the 2002 Transverse Myelitis Consortium Group criteria. Long-term follow-up data were collected for patients not diagnosed with multiple sclerosis (MS) or neuromyelitis optica spectrum disorder as a result of the initial myelitis.</p><p><strong>Results: </strong>We identified 2,321 individuals, of whom 461 were patients with myelitis. The crude mean incidence of all-cause myelitis was 24.9 (95% CI 16.7-33.9) cases per million person-years, of which idiopathic myelitis had an incidence of 8.0 (95% CI 3.8-12.1) cases per million person-years. Partial myelitis was found in 80% of patients. Poor functional outcome was found in 11% of the cohort and correlated, in a multivariate logistic model, with age older than 50 years (OR 4.26, 95% CI 1.75-10.40), transverse spinal cord lesions (odds ratio [OR] 6.85, 95% CI 2.68-17.52), elevated CSF count of polymorphonuclear cells (OR 6.09, 95% CI 1.56-23.72), and elevated CSF/serum albumin ratio (OR 3.17, 95% CI 1.23-8.17). The median follow-up time was 5.4 years. Relapses occurred in 27% of patients with idiopathic myelitis and 72% of patients with unspecified demyelinating disease of the CNS. An increased relapse rate after idiopathic myelitis was found to be associated, in a multivariate model, with the presence of oligoclonal bands (incidence rate ratio [IRR] 4.47, 95% CI 1.70-11.73), transverse spinal cord lesions (IRR 2.81, 95% CI 1.11-7.12), and multifocal spinal cord lesions (IRR 2.82, 95% CI 1.03-7.69). Around half (48%) of all patients with myelitis received MS diagnosis during the study period.</p><p><strong>Discussion: </strong>This large population-wide study describes a relatively high incidence of myelitis and low risk of relapses after idiopathic myelitis. A complete diagnostic workup of myelitis, including MRI of the entire CNS and collection of CSF, is essential in evaluating underlying causes and prognosis.</p>","PeriodicalId":19472,"journal":{"name":"Neurology® Neuroimmunology & Neuroinflammation","volume":"12 6","pages":"e200472"},"PeriodicalIF":7.5,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12424075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145030338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}