Department of Human Neurosciences, "Sapienza" University of Rome, Rome, Italy.
Neurology Unit, AULSS8 Berica, Vicenza, Italy.
J Neuroimmunol. 2023 May 15;378:578084. doi: 10.1016/j.jneuroim.2023.578084. Epub 2023 Apr 5.
Here we describe the second ever-reported case of familial anti-leucine-rich glioma-inactivated protein 1 (LGI1) limbic encephalitis (LE). Two elderly Caucasian sisters presented with psychiatric symptoms and cognitive impairment, followed by faciobrachial dystonic seizures. Anti-LGI1 antibodies were detected in their serum. Considering they had been living in distant regions for decades, environmental factors could be ruled out. Human leukocyte antigen (HLA) genotyping revealed that both carried HLA-DRB107, found in 90% of anti-LGI1 encephalitis patients, HLA-DQA102:01 and HLA-DQB103:03, commonly associated with DRB107:01. Considering the exceptional nature of familial cases, as-yet-unknown genetic contributors other than HLA might play a role in our siblings.
在这里，我们描述了第二例家族性抗亮氨酸丰富胶质瘤失活蛋白 1（LGI1）边缘性脑炎（LE）的病例。两位老年白人姐妹以精神症状和认知障碍为首发表现，随后出现面肩臂肌张力障碍性癫痫发作。她们的血清中检测到抗 LGI1 抗体。鉴于她们已经在遥远的地区生活了几十年，因此可以排除环境因素。人类白细胞抗原（HLA）基因分型显示，两人均携带 90%抗 LGI1 脑炎患者中存在的 HLA-DRB107、常见于 DRB107:01 的 HLA-DQA102:01 和 HLA-DQB103:03。鉴于家族性病例的特殊性，除 HLA 以外，其他尚未明确的遗传因素可能在我们的姐妹中发挥作用。
