Anti-LGI1 encephalitis: A family affair

被引：0

作者：

De Stefano, Gianfranco ^{[1
]}

Pulitano, Patrizia ^{[1
]}

Di Bonaventura, Carlo ^{[1
]}

Zuliani, Luigi ^{[2
]}

Morano, Alessandra ^{[1
,3
]}

机构：

[1] Sapienza Univ Rome, Dept Human Neurosci, Rome, Italy

[2] AULSS8 Berica, Neurol Unit, Vicenza, Italy

[3] Sapienza Univ Rome, Dept Human Neurosci, Viale Univ 30, I-00185 Rome, Italy

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2023年 / 378卷

关键词：

LGI1; Autoimmune encephalitis; Familial; HLA; Genetics; ANTIBODIES;

D O I：

10.1016/j.jneuroim.2023.578084

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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-DRB1*07, found in 90% of anti-LGI1 en-cephalitis patients, HLA-DQA1*02:01 and HLA-DQB1*03:03, commonly associated with DRB1*07:01. Consid-ering the exceptional nature of familial cases, as-yet-unknown genetic contributors other than HLA might play a role in our siblings.

引用

页数：4

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