Background and Objectives: The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) is a scale for assessing severity in autoimmune encephalitis. We aimed to validate the CASE score in a Chinese population and evaluate its clinical significance. Methods: Patients diagnosed with autoimmune encephalitis were recruited between June 2014 and May 2019 from two hospitals. CASE and modified Rankin Scale (mRS) scores were obtained. Data regarding clinical features, treatment, and available information were gathered from the hospital information system. Results: Of the 176 patients with autoimmune encephalitis, 11 died and 14 had tumors. Ten patients received second-line treatment. The CASE scores of patients receiving second-line treatment were significantly higher (median CASE: 15) than in those receiving first-line treatment (median CASE: 8) (p2). Areas under the curve of CASE on whether functional status was poor at 1 year were 0.89 (p<0.001). Sixty patients were admitted to the intensive care unit (ICU), and the CASE scores were positively correlated with days in the ICU (r=0.58, p0.05). Additionally, the CASE scores were positively associated with the mRS scores (r=0.85 p<0.001). Conclusions: The CASE score is suitable for the comprehensive assessment of Chinese patients with autoimmune encephalitis, which may help clinicians to select the appropriate intervention and estimate the disease severity and prognosis.

Microglial and astrocyte activation and related cytokine secretion play key roles in secondary brain injury following intracerebral hemorrhage (ICH). We assessed the role of aquaporin (AQP)2 in immune response after ICH. We prospectively collected data from 33 patients with ICH and analyzed the serum AQP2 levels in these patients and age-matched healthy controls. A correlation analysis was also performed between patient serum AQP2 levels and clinical factors. In the rat ICH model, double-fluorescence staining for glial fibrillary acidic protein (GFAP) and AQP2 was performed to investigate the relationship between astrocytes and AQP2. Relative mRNA expression levels of GFAP and AQP2 were also measured. In the rat astrocyte cell line CTX-TNA2, toll-like receptor (TLR)4/nuclear factor kappa B (NFκB)-p65 pathway activation and GFAP levels were measured. The indirect influence of AQP2 on microglial polarization was assessed following exposure to the medium of astrocytes treated with AQP2-overexpression plasmid or silencing RNA. We found that the serum AQP2 expression was lower in patients with ICH. Sex and blood neutrophil count influenced serum AQP2 concentrations in patients with ICH on admission. Lower serum AQP2 levels were inversely correlated with 90-day Modified Rankin Scale scores after ICH, but were not correlated with National Institute of Health stroke scale (NIHSS) scores on admission. AQP2 overexpression and localization in GFAP-labeled astrocytes were observed in rats. AQP2 overexpression induced astrocyte activation with GFAP upregulation via TLR/NFκB-p65 signaling pathway activation in the rat astrocyte cell line CTX-TNA2. Astrocyte activation promoted interleukin-1β secretion. The medium of AQP2-overexpression astrocytes promoted the pro-inflammatory M1 phenotype in the immortal rat (HAPI) microglial cell line. Therefore, serum AQP2 is negatively correlated with post-ICH prognosis and may be a marker of inflammation in early-stage ICH. AQP2 overexpression promotes astrocyte activation and pro-inflammatory secretion, affects astrocyte-microglia crosstalk, and indirectly induces microglial polarization, which may augment inflammation after ICH.

Objective: This study aimed to investigate the demographic characteristic of pregnancy-related attacks (PRAs) in neuromyelitis optica spectrum disorder (NMOSD). In addition, we investigated the predictors of PRAs as well as the effect of immunosuppressive (IS) therapy in patients with pregnancy-related NMOSD.Method: We retrospectively analyzed data on clinical and diagnostic characteristics, therapeutic management, and pregnancy outcomes for PRAs in AQP4-IgG-positive NMOSD patients admitted to the Second Xiangya Hospital of Central South University. Moreover, we searched the literature (without any temporal restriction) to identify all such similar cohorts and performed a meta-analysis to evaluate the effectiveness and safety of IS therapy on NMOSD patients with PRAs.Result: We collected clinical data on 117 women with AQP4 antibody-positive NMOSD; we ultimately included 33 patients (34 pregnancies). Ten patients were relapse-free during pregnancy, and 23 (69.7%) had PRA; attacks were most common during the first trimester of the postpartum period. Maintenance of IS treatment during pregnancy was found to greatly reduce PRAs in patients with NMOSD. PRAs were associated with a higher neutrophil-to-lymphocyte ratio (NLR) at relapse during pregnancy and shorter time interval between the last relapse and conception. The meta-analysis suggested that maintenance of IS treatment during pregnancy can significantly reduce the RR of NMOSD (95%CI=0.35-0.62; z=5.18, p<0.0001) and had no adverse effect on the miscarriage rate. However, the unhealthy newborn occurrence among those receiving IS treatment was 3.73 times higher than that of those not receiving treatment during pregnancy (95%CI=1.40–9.91; z=2.64, p=0.008).Conclusion: Our study results demonstrates that pregnancy can induce the onset or relapse of attacks in NMOSD patients. The increased NLR value and disease activity may be a predictor for PRAs in patients with NMOSD. Moreover, administration of IS treatment during pregnancy can reduce the relapse rate. However, the dosage of drugs and risks of adverse effects to the fetus need to be considered. Future prospective studies with larger sample sizes are needed to confirm and extend our findings.

Background: HINT1 mutations cause an autosomal recessive axonal neuropathy with neuromyotonia. This is a first case report of coexistence of myasthenia gravis (MG) and HINT1-related motor axonal neuropathy without neuromyotonia. Case presentation: A 32-year-old woman presented with recurrent ptosis for 8 years, diplopia for 2 years and limb weakness for 1 year and a half. Neostigmine test, elevated AChR antibody level and positive repetitive nerve stimulation supported the diagnosis of MG. Electroneurography (ENG) and electromyography (EMG) examinations revealed a motor axonal neuropathy without neuromyotonic or myokymic discharges. Next-generation sequencing and Sanger sequencing were performed to identify the gene responsible for suspected hereditary neuropathy. Genetic testing for a HINT1 mutation was performed and revealed a homozygous mutation at c.278G>T (p. G93V). The patient was treated with pyridostigmine, oral prednisolone and azathioprine. Her ptosis and diplopia have significantly improved at 6-month follow-up. Conclusions: Concurrence of MG and hereditary motor axonal neuropathy without neuromyotonia is quite rare. Detection of ptosis with or without ophthalmoplegia, distribution of limb weakness, and reflex can help in recognizing the combination of MG and peripheral neuropathy. Early diagnosis is important for initial treatment and prognosis. The novel homozygous variant c.278G>T(p.G93V) contributes to the pathogenic variants spectrum of the HINT1 gene.