PMID- 38483154 OWN - NLM STAT- MEDLINE DCOM- 20240429 LR - 20240502 IS - 1473-6551 (Electronic) IS - 1350-7540 (Linking) VI - 37 IP - 3 DP - 2024 Jun 1 TI - Genetic predisposition to autoimmune encephalitis and paraneoplastic neurological syndromes. PG - 329-337 LID - 10.1097/WCO.0000000000001263 [doi] AB - PURPOSE OF REVIEW: We summarize the recent discoveries on genetic predisposition to autoimmune encephalitis and paraneoplastic neurological syndromes (PNS), emphasizing clinical and pathophysiological implications. RECENT FINDINGS: The human leukocyte antigen (HLA) is the most studied genetic factor in autoimmune encephalitis and PNS. The HLA haplotype 8.1, which is widely known to be related to systemic autoimmunity, has been only weakly associated with a few types of autoimmune encephalitis and PNS. However, the strongest and most specific associations have been reported in a subgroup of autoimmune encephalitis that comprises antileucine-rich glioma-inactivated 1 (LGI1) limbic encephalitis, associated with DRB1 *07 : 01 , anticontactin-associated protein-like 2 (CASPR2) limbic encephalitis, associated with DRB1 *11 : 01 , and anti-IgLON5 disease, associated with DRB1 *10 : 01 approximately DQA1 *01 approximately DQB1 *05 . Non-HLA genes have been poorly investigated so far in autoimmune encephalitis, mainly in those lacking HLA associations such as anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, with only a few genome-wide association studies (GWAS) reporting equivocal results principally limited by small sample size. SUMMARY: Genetic predisposition seems to be driven mostly by HLA in a group of autoimmune encephalitis characterized by being nonparaneoplastic and having predominantly IgG4 autoantibodies. The contribution of non-HLA genes, especially in those diseases lacking known or strong HLA associations, will require large cohorts enabling GWAS to be powerful enough to render meaningful results. CI - Copyright (c) 2024 Wolters Kluwer Health, Inc. All rights reserved. FAU - Muniz-Castrillo, Sergio AU - Muniz-Castrillo S AD - Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, California, USA. AD - French Reference Center for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon. FAU - Honnorat, Jerome AU - Honnorat J AD - French Reference Center for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon. AD - MeLiS Institute - UCBL-CNRS UMR 5284 - INSERM U1314, Universite Claude Bernard Lyon 1, Lyon, France. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20240314 PL - England TA - Curr Opin Neurol JT - Current opinion in neurology JID - 9319162 RN - 0 (HLA Antigens) RN - 0 (Autoantibodies) RN - Hashimoto's encephalitis SB - IM MH - Humans MH - *Genetic Predisposition to Disease/genetics MH - *Paraneoplastic Syndromes, Nervous System/genetics/immunology MH - *Encephalitis/genetics/immunology MH - Hashimoto Disease/genetics/immunology MH - HLA Antigens/genetics/immunology MH - Autoantibodies/immunology EDAT- 2024/03/14 12:47 MHDA- 2024/04/29 13:57 CRDT- 2024/03/14 09:02 PHST- 2024/04/29 13:57 [medline] PHST- 2024/03/14 12:47 [pubmed] PHST- 2024/03/14 09:02 [entrez] AID - 00019052-202406000-00018 [pii] AID - 10.1097/WCO.0000000000001263 [doi] PST - ppublish SO - Curr Opin Neurol. 2024 Jun 1;37(3):329-337. doi: 10.1097/WCO.0000000000001263. Epub 2024 Mar 14.