Department of Neurology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong Province, China.
Department of Neurology, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen, Guangdong Province, China.
Int J Neurosci. 2022 Oct;132(10):1043-1048. doi: 10.1080/00207454.2020.1860965. Epub 2020 Dec 30.
This case report is the first to describe the detection of antibodies against inositol 1,4,5-trisphosphate receptor 1 (ITPR1, I3PR) in a patient diagnosed with autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy. ITPR1 is known as one of the Purkinje cell antibodies present in autoimmune cerebellar ataxia (ACA). Here, we described the association between autoimmune GFAP astrocytopathy and autoimmune cerebellar disease (ACD).
Demographic features, clinical characteristics, cerebrospinal fluid (CSF) parameters and neuroimaging findings were collected from this patient. Specifically, antibodies against GFAP and other proteins associated with neurological disorders were measured by immunofluorescence staining in both serum and CSF samples.
A 52-year-old woman was diagnosed with autoimmune inflammatory meningoencephalitis. She presented with cognitive dysfunction, psychiatric/behavioral abnormalities and serious insomnia with subacute onset. Brain magnetic resonance imaging (MRI) showed bilateral hyperintensity in the semioval centers on axial images and perivascular linear enhancement oriented radially to the ventricles on sagittal images. GFAP-IgG, oligoclonal bands (OBs), N-methyl-D-aspartate receptor (NMDAR)-IgG and ITPR1-IgG co-existed in her CSF. She responded well to immunoglobulin and steroid treatments.
Here, we describe the case of a patient with autoimmune GFAP astrocytopathy whose CSF was positive for ITPR1-IgG; however, she did not show typical ataxia manifestations or cerebellar lesions on her MRI scan. This suggests that ITPR1-IgG is not pathogenic, and the positivity of this antibody in CSF is probably associated with the presence of autoimmune inflammation.
本病例报告首次描述了在自身免疫性神经胶质纤维酸性蛋白（GFAP）星形细胞瘤病患者中检测到肌醇 1,4,5-三磷酸受体 1（ITPR1，I3PR）抗体。ITPR1 是存在于自身免疫性小脑性共济失调（ACA）中的一种蒲肯野细胞抗体。在此，我们描述了自身免疫性 GFAP 星形细胞瘤病与自身免疫性小脑疾病（ACD）之间的关联。
从该患者中收集了人口统计学特征、临床特征、脑脊液（CSF）参数和神经影像学发现。具体而言，通过免疫荧光染色法在血清和 CSF 样本中测量了针对 GFAP 和其他与神经障碍相关的蛋白的抗体。
一名 52 岁女性被诊断为自身免疫性炎症性脑膜脑炎。她表现为认知功能障碍、精神/行为异常和严重失眠，亚急性起病。脑磁共振成像（MRI）显示双侧半卵圆中心在轴位图像上呈高信号，矢状图像上呈向脑室放射状的血管周围线性增强。她的 CSF 中存在 GFAP-IgG、寡克隆带（OBs）、N-甲基-D-天冬氨酸受体（NMDAR）-IgG 和 ITPR1-IgG。她对免疫球蛋白和类固醇治疗反应良好。
在这里，我们描述了一例自身免疫性 GFAP 星形细胞瘤病患者的病例，其 CSF 中存在 ITPR1-IgG，但她的 MRI 扫描未显示典型的共济失调表现或小脑病变。这表明 ITPR1-IgG 不是致病性的，该抗体在 CSF 中的阳性可能与自身免疫性炎症的存在有关。
