Neurology Department, University of Thessaly, Larissa, Greece.
1st Neurology Department, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Eur J Neurol. 2020 Nov;27(11):2381-2384. doi: 10.1111/ene.14244.
Glial fibrillary acidic protein (GFAP) is an intracellular protein of the astrocytic cytoskeleton. Recently, autoantibodies to GFAP detected by cell-based assay in cerebrospinal fluid (CSF) or serum have been implicated in cerebral astrocytopathy, presenting predominantly with autoimmune meningoencephalomyelitis. However, the phenotypic spectrum, prognosis and therapeutics of this new entity remain to be elucidated.
Herein, we report radiological, CSF and serological findings during disease exacerbation and remission, from a patient with autoimmune GFAP astrocytopathy, presenting as an immunotherapy responsive GFAP IgG-associated meningoencephalomyelitis.
Brain and spine magnetic resonance imaging revealed meningeal enhancement, T2 hyperintensities, black holes, significant sulci widening and spinal atrophy. In addition, high levels of neurofilaments (NfL) and GFAP were also identified during disease exacerbation, consistent with the appearance of the black holes.
To date, black holes and atrophy have never been reported before in autoimmune GFAP astrocytopathy. These findings, combined with the high levels of GFAP and NfL, suggest the existence of an underlying neurodegenerative mechanism in addition to the known inflammatory response. Further studies are needed to elucidate the pathomechanism of GFAP-astrocytopathies.
胶质纤维酸性蛋白（GFAP）是星形细胞细胞骨架的一种细胞内蛋白。最近，通过细胞基础检测在脑脊液（CSF）或血清中检测到的针对 GFAP 的自身抗体与脑星形胶质细胞病变有关，主要表现为自身免疫性脑膜脑炎。然而，这种新实体的表型谱、预后和治疗方法仍有待阐明。
在此，我们报告了一位自身免疫性 GFAP 星形胶质细胞病变患者在疾病恶化和缓解期间的影像学、CSF 和血清学发现，其表现为免疫治疗反应性 GFAP IgG 相关的脑膜脑炎。
脑和脊柱磁共振成像显示脑膜强化、T2 高信号、黑洞、明显脑沟增宽和脊柱萎缩。此外，在疾病恶化期间还发现了神经丝（NfL）和 GFAP 的高水平，与黑洞的出现一致。
迄今为止，自身免疫性 GFAP 星形胶质细胞病变中从未报道过黑洞和萎缩。这些发现，加上 GFAP 和 NfL 的高水平，表明除了已知的炎症反应外，还存在潜在的神经退行性机制。需要进一步研究来阐明 GFAP-星形胶质细胞病变的发病机制。
