Anti-LGI1 encephalitis: A family affair.
Autoimmune encephalitis
Familial
Genetics
HLA
LGI1
Journal
Journal of neuroimmunology
ISSN: 1872-8421
Titre abrégé: J Neuroimmunol
Pays: Netherlands
ID NLM: 8109498
Informations de publication
Date de publication:
15 05 2023
15 05 2023
Historique:
received:
26
02
2023
revised:
01
04
2023
accepted:
01
04
2023
medline:
8
5
2023
pubmed:
11
4
2023
entrez:
10
4
2023
Statut:
ppublish
Résumé
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 encephalitis patients, HLA-DQA1*02:01 and HLA-DQB1*03:03, commonly associated with DRB1*07:01. Considering the exceptional nature of familial cases, as-yet-unknown genetic contributors other than HLA might play a role in our siblings.
Identifiants
pubmed: 37037125
pii: S0165-5728(23)00070-X
doi: 10.1016/j.jneuroim.2023.578084
pii:
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
HLA-DRB1 Chains
0
Autoantibodies
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
578084Informations de copyright
Copyright © 2023 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.