Brain Institute of Rio Grande do Sul, Porto Alegre 90610-000, Brazil.
Graduate Program in Medicine and Health Sciences, Medical School, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre 90619-900, Brazil.
Int J Mol Sci. 2024 Aug 3;25(15):8487. doi: 10.3390/ijms25158487.
Rasmussen's encephalitis (RE) stands as a rare neurological disorder marked by progressive cerebral hemiatrophy and epilepsy resistant to medical treatment. Despite extensive study, the primary cause of RE remains elusive, while its histopathological features encompass cortical inflammation, neuronal degeneration, and gliosis. The underlying molecular mechanisms driving disease progression remain largely unexplored. In this case study, we present a patient with RE who underwent hemispherotomy and has remained seizure-free for over six months, experiencing gradual motor improvement. Furthermore, we conducted molecular analysis on the excised brain tissue, unveiling a decrease in the expression of cell-cycle-associated genes coupled with elevated levels of BDNF and TNF-α proteins. These findings suggest the potential involvement of cell cycle regulators in the progression of RE.
拉森氏脑炎(RE)是一种罕见的神经疾病,其特征为进行性大脑偏侧萎缩和对抗癫痫药物治疗无效的癫痫。尽管进行了广泛的研究,但 RE 的主要病因仍难以确定,其组织病理学特征包括皮质炎症、神经元变性和神经胶质增生。驱动疾病进展的潜在分子机制在很大程度上仍未被探索。在本病例研究中,我们介绍了一位接受半脑切除术的 RE 患者,该患者已无癫痫发作超过六个月,并逐渐改善运动功能。此外,我们对切除的脑组织进行了分子分析,揭示了细胞周期相关基因表达的降低,同时伴有 BDNF 和 TNF-α 蛋白水平的升高。这些发现表明细胞周期调节剂可能参与了 RE 的进展。