ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically limited. Methods We conducted a single‐center retrospective case series analyzing 13 consecutive patients with SOX1 antibody‐positive PNS treated at Guangdong Sanjiu Brain Hospital from January 2019 to December 2024. SOX1 antibodies were confirmed using commercial immunoblot assay. Primary endpoints included treatment response (≥ 1‐point improvement on modified Rankin Scale [mRS]) and functional recovery (mRS ≤ 2). Statistical analyses employed Fisher's exact tests and Mann–Whitney U tests. Results Among 13 patients (median age 61 years [IQR 56–67], 53.8% female), neuropsychiatric presentations predominated, including seizures (46.2%) and psychiatric symptoms (30.8%), with combined neuropsychiatric manifestations occurring in 53.8% of patients. Co‐existing neuronal antibodies were identified in 15.4% of cases (GABAB receptor, LGI1). Malignancy was confirmed in 30.8% of patients. Immunotherapy recipients ( n = 7) demonstrated significantly superior functional outcomes compared to non‐treated patients: median 3‐month mRS 0 (IQR 0–0) versus 3 (IQR 3–3), p = 0.03. Treatment response rates were 85.7% versus 33.3% ( p = 0.103). Conclusions Chinese patients with SOX1 antibody‐positive PNS demonstrate a neuropsychiatric‐predominant phenotype (53.8%), contrasting markedly with Western cohorts. Early immunotherapy administration was associated with superior functional outcomes (median 3‐month mRS: 0 vs. 3, p = 0.03). These findings support comprehensive neuronal antibody profiling and early immunotherapy consideration in patients presenting with neuropsychiatric manifestations.

ObjectiveThis study aims to report three cases of autoimmune encephalitis followed by hemophagocytic lymphohistiocytosis.MethodsData of relevant patients treated between 2019 and 2022 were retrospectively collected from the Department of Neurology at the Second Affiliated Hospital of Guangzhou Medical University.ResultsThe age at onset of the three patients was 37, 63, and 36 years, respectively. All three patients were female and presented with cognitive dysfunction and seizures. Behavioral and psychological symptoms were also observed in two cases. All patients were positive for autoantibodies in both the cerebrospinal fluid and serum, while two showed multiple abnormal brain signals on magnetic resonance imaging. All patients exhibited hypocytosis and elevated soluble CD25 and serum ferritin levels. The final diagnoses in two cases were lymphomas, while the remaining case without tumors suffered from a severe infection. All patients received immunotherapy, and the two with lymphoma received anti-tumor treatment. The patient with infection died, and two patients with tumors improved after chemotherapy.ConclusionAutoimmune encephalitis followed by hemophagocytic lymphohistiocytosis is a rare and severe condition. Prompt attention should be paid to the decline in blood cell counts, particularly in patients who show a slight improvement after immunotherapy or have a risk of lymphoma. Screening for potential tumors and infections and early treatment may help these patients.

•It is the first time to describe screening of DNER-IgG in a very large samples of cerebral spinal fluid.•The patients with DNER-IgG have no tumors in long-term follow-up.•The ratio DNER/anti-Tr cerebellar syndrome (76%) related to HL is less than previously reported data (90%).

To explore the autoimmune response and outcome in the central nervous system (CNS) at the onset of viral infection and correlation between autoantibodies and viruses. Methods A retrospective observational study was conducted in 121 patients (2016–2021) with a CNS viral infection confirmed via cerebrospinal fluid (CSF) next-generation sequencing (cohort A). Their clinical information was analysed and CSF samples were screened for autoantibodies against monkey cerebellum by tissue-based assay. In situ hybridisation was used to detect Epstein-Barr virus (EBV) in brain tissue of 8 patients with glial fibrillar acidic protein (GFAP)-IgG and nasopharyngeal carcinoma tissue of 2 patients with GFAP-IgG as control (cohort B). Results Among cohort A (male:female=79:42; median age: 42 (14–78) years old), 61 (50.4%) participants had detectable autoantibodies in CSF. Compared with other viruses, EBV increased the odds of having GFAP-IgG (OR 18.22, 95% CI 6.54 to 50.77, p<0.001). In cohort B, EBV was found in the brain tissue from two of eight (25.0%) patients with GFAP-IgG. Autoantibody-positive patients had a higher CSF protein level (median: 1126.00 (281.00–5352.00) vs 700.00 (76.70–2899.00), p<0.001), lower CSF chloride level (mean: 119.80±6.24 vs 122.84±5.26, p=0.005), lower ratios of CSF-glucose/serum-glucose (median: 0.50[0.13-0.94] vs 0.60[0.26-1.23], p =0.003), more meningitis (26/61 (42.6%) vs 12/60 (20.0%), p=0.007) and higher follow-up modified Rankin Scale scores (1 (0–6) vs 0 (0–3), p=0.037) compared with antibody-negative patients. A Kaplan-Meier analysis revealed that autoantibody-positive patients experienced significantly worse outcomes (p=0.031). Conclusions Autoimmune responses are found at the onset of viral encephalitis. EBV in the CNS increases the risk for autoimmunity to GFAP.

BACKGROUND AND OBJECTIVES:Brain radial enhancement pattern on magnetic resonance imaging (MRI) has been identified as typical lesions in autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A). However, the authors encountered several patients without GFAP-IgG showing that such specific imaging. In the present study, we reported the clinical pictures of 5 GFAP-IgG-negative patients with GFAP-A specific imaging pattern.METHODS:Data was retrospectively obtained from June 2013 through April 2023, and five GFAP-IgG-negative patients with valid data were recruited. Clinical information was either obtained by the investigators or retrieved from the referring clinicians and included prodromal symptoms, neurologic manifestations, comorbidities, results of ancillary studies.RESULTS:Altogether five GFAP-IgG-negative patients with "meningoencephalitis/encephalitis" manifestations and brain radial perivascular enhancement were confirmed. One patient had peripheral lymphoma. Four patients had other autoimmune antibody in serum and/or cerebrospinal fluid, of which one patient had positive aquaporin IgG. Clinical features of the five patients included headache, fever, epilepsy and abnormal behavioral symptoms. MRI of patients revealed radial perivascular gadolinium enhancement extending from the lateral ventricles to the white matter suggestive of autoimmune GFAP-A.CONCLUSION:GFAP-A-like disorders with radial perivascular enhancement could be found in GFAP-IgG-negative patients with or without neoplasm, which could provide new insight into the differential diagnosis of GFAP-A.

Purpose:Currently, no uniform diagnostic criteria or treatment consensus is available for patients with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A). The aim of this registry is to develop diagnostic and therapeutic recommendations for GFAP-A based on clinical features, neuroimaging, neuroelectrophysiological examinations, laboratory tests, specific antibody tests, immunotherapy, and prognosis.Patients and methods:This multicenter, nationwide ambispective registry includes twenty-seven hospitals in China. From January 2020 to December 2022, consecutive hospitalized patients with symptoms of meningoencephalitis, as well as GFAP-IgG positive cerebrospinal fluid (CSF) or serum will be invited to join this study. It is conservatively estimated that over 300 patients will join the study. Data on demographics, medical history, treatment details and imaging features will be collected after discharge. Outcome events of interest will include modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS), readmission with relapsed meningoencephalomyelitis, all-cause mortality, and mortality resulting from complications of GFAP-A. The follow-up will be conducted at six months and twelve months after discharge. Univariate and multivariate regression models will be used to calculate identify independent predictors of outcomes. Stratification analysis will be used to test whether results are similar between key subgroups.Discussion:This study will describe the risk factors, disease course, response to immunotherapy, and long-term prognosis of a large cohort of GFAP-A patients. By using these data, a relatively rational recommendation process for the diagnosis and treatment of GFAP-A will be developed.Trial Registration Number:ChiCTR2000041291.

Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) is a newly defined meningoencephalomyelitis. The pathogenesis of GFAP-A is not well understood. The present study measured the expression levels of 200 serological cytokines in GFAP-A patients, NMOSD patients and healthy controls (HCs). The correlations between serum cytokine levels and clinical information in GFAP-A patients were analyzed. A total of 147 serological proteins were differentially expressed in GFAP-A patients compared to HCs, and 33 of these proteins were not observed in NMOSD patients. Serum levels of EG-VEGF negatively correlated with GFAP antibody titers, MIP-3 alpha positively correlated with clinical severity in GFAP-A patients, and LIGHT positively correlated with WBC counts and protein levels in the CSF of GFAP-A patients. These results suggest that GFAP and AQP4 astrocytopathy share some common pathology related to TNF signaling. Serum MIP 3 alpha may be a biomarker to assess clinical severity and a potential target for therapy of autoimmune GFAP astrocytopathy.

Background Coronary artery stenosis (CAS) ≥50% often coexists in patients with ischemic stroke, which leads to a significant increase in the occurrence of major vascular events after stroke. This study aimed to develop a nomogram for diagnosing the presence of ≥50% asymptomatic CAS in patients with ischemic stroke. Methods A primary cohort was established that included 275 non-cardioembolic ischemic stroke patients who were admitted from January 2011 to April 2013 to a teaching hospital in southern China. The preoperative data were used to construct two models by the best subset regression and the forward stepwise regression methods, and a nomogram between these models was established. The assessment of the nomogram was carried out by discrimination and calibration in an internal cohort. Results Out of the two models, model 1 contained eight clinical-related variables and exhibited the lowest Akaike Information Criterion value (322.26) and highest concordance index 0.716 (95% CI, 0.654-0.778). The nomogram showed good calibration and significant clinical benefit according to calibration curves and the decision curve analysis. Conclusion The nomogram, composed of age, sex, NIHSS score on admission, hypertension history, fast glucose level, HDL cholesterol level, LDL cholesterol level, and presence of ≥50% cervicocephalic artery stenosis, can be used for prediction of ≥50% asymptomatic coronary artery disease (CAD). Further studies are needed to validate the effectiveness of this nomogram in other populations.

【目的】探讨胶质纤维酸性蛋白抗体（GFAP-IgG）和水通道蛋白4抗体（AQP4-IgG）双阳性伴脊髓炎的自身免疫性胶质纤维酸性蛋白星形细胞病（GFAP-A）临床特点，旨在提高临床医师对此疾病的认识与诊治。【方法】本项目为一项回顾性病例对照研究，纳入伴脊髓炎的GFAP-A病例，收集伴随AQP4-IgG阳性的病例资料，汇总后进行综合分析。【结果】纳入55例GFAP-A，其主要临床症状包括头痛、发热、脊髓炎、视觉异常、行为异常、共济失调、意识障碍、癫痫发作、运动障碍、认知障碍和其他症状等。其中31例合并脊髓炎，并有8例为GFAP/AQP4双阳性伴脊髓炎。8例双阳性病例均表现有排尿便困难和感觉平面障碍，MRI检查均可见明显的脊髓病灶，其中7例有超过三个脊椎节段的长病灶。本研究选择了8例GFAP/AQP4-IgG双阳性伴脊髓炎、16例GFAP-IgG单阳性（除了AQP4-IgG阴性外，神经元抗体和少突、胶质细胞抗体均阴性）伴脊髓炎以及同时期诊断的47例AQP4-IgG单阳性（无伴随其它神经相关抗体）伴脊髓炎的视神经脊髓炎谱系疾病（NMOSD）进行了统计学分析。经统计学分析，GFAP-IgG单阳组与GFAP/AQP4-IgG双阳组的临床特点无明显统计学差异。GFAP-IgG单阳组与AQP4-IgG单阳组在性别比例、发热、头痛、共济失调、行为异常、视觉异常、MRI放射性血管样强化、脑脊液蛋白水平、脑脊液氯水平、脑脊液糖/血糖比值、脑脊液蛋白/脑脊液糖比值等均有统计学差异（P＜0.05）。GFAP/AQP4-IgG双阳组与AQP4-IgG单阳组在发热、脑脊液蛋白水平有统计学差异（P＜0.05）。【结论】GFAP/AQP4-IgG双阳性脊髓炎相对少见，临床表现上排尿便困难和感觉平面障碍较为突出，脊髓MRI多表现为超过三个脊椎节段的长病灶，与AQP4单阳性的脊髓炎病例的临床特点存在统计学差别。

目的 探讨自身免疫性胶质纤维酸性蛋白星形细胞病(GFAP-A)血清尿酸的水平和临床意义.方法 回顾性收集2013年6月至2021年11月广州医科大学附属第二医院的63例GFAP-A患者的临床资料,并分析其尿酸水平.结果 63例GFAP-A患者中,治疗前中位血清尿酸水平为280μmol/L(61～567μmol/L).GFAP-A组的血清尿酸水平低于体检对照组(P=0.005)和BPPV组(P=0.008).男性组中,GFAP-A组的血清尿酸水平低于BPPV组(P=0.0004).女性组中,GFAP-A组的血清尿酸水平低于BPPV组(P=0.028)和体检对照组(P=0.014).结论 GFAP-A患者发病期间血清尿酸水平低于健康者,但尿酸在GFAP-A的意义仍需要进一步阐述.

目的 探讨自身免疫性胶质纤维酸性蛋白星形细胞病的脑膜脊膜病变特点,旨在提高临床医师对自身免疫性胶质纤维酸性蛋白星形细胞病(GFAP-A)的认识与诊治.方法 一项回顾性病例对照研究.通过免疫荧光的方法检测出阳性的GFAP-IgG 55例,其中28例患者完成头颅MRI的平扫和增强(25例同时完成脊髓MRI平扫和增强).对照组为同期住院的27例AQP4-IgG阳性的视神经脊髓炎谱系疾病患者,均完成头颅和脊髓MRI平扫和增强.结果 纳入28例GFAP-A,主要临床症状包括头痛(46.4％,13/28)、发热(57.1％,16/28)、脊髓炎(42.9％,12/28)、视觉异常(39.3％,11/28)、行为异常(28.6％,8/28)、共济失调(25.0％,7/28)、意识障碍(14.3％,4/28)、癫痫发作(10.7％,3/28)、运动障碍(7.1％,2/28)、认知障碍(10.7％,3/28)和其他症状(25％,7/28).MRI增强下15例(53.6％)出现脑膜和(或)脊膜的异常信号,其中脑膜异常8例(28.6％),脊膜异常3例(10.7％),脑膜与脊膜同时异常4例(14.3％).两例病理资料显示脑膜增厚,慢性炎症改变.与视神经脊髓炎谱系疾病对比显示性别比例、发热、头痛、行为异常、视觉异常、MRI放射性血管样强化、脊髓异常、长节段脊髓炎、脑膜和(或)脊膜异常差异均有统计学意义(P<0.05).