PMID- 37037125
OWN - NLM
STAT- MEDLINE
DCOM- 20230508
LR  - 20230616
IS  - 1872-8421 (Electronic)
IS  - 0165-5728 (Linking)
VI  - 378
DP  - 2023 May 15
TI  - Anti-LGI1 encephalitis: A family affair.
PG  - 578084
LID - S0165-5728(23)00070-X [pii]
LID - 10.1016/j.jneuroim.2023.578084 [doi]
AB  - 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.
CI  - Copyright (c) 2023 Elsevier B.V. All rights reserved.
FAU - De Stefano, Gianfranco
AU  - De Stefano G
AD  - Department of Human Neurosciences, "Sapienza" University of Rome, Rome, Italy.
FAU - Pulitano, Patrizia
AU  - Pulitano P
AD  - Department of Human Neurosciences, "Sapienza" University of Rome, Rome, Italy.
FAU - Di Bonaventura, Carlo
AU  - Di Bonaventura C
AD  - Department of Human Neurosciences, "Sapienza" University of Rome, Rome, Italy.
FAU - Zuliani, Luigi
AU  - Zuliani L
AD  - Neurology Unit, AULSS8 Berica, Vicenza, Italy.
FAU - Morano, Alessandra
AU  - Morano A
AD  - Department of Human Neurosciences, "Sapienza" University of Rome, Rome, Italy. 
      Electronic address: alessandra.morano@uniroma1.it.
LA  - eng
PT  - Journal Article
DEP - 20230405
PL  - Netherlands
TA  - J Neuroimmunol
JT  - Journal of neuroimmunology
JID - 8109498
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (Autoantibodies)
SB  - IM
MH  - Humans
MH  - Aged
MH  - Intracellular Signaling Peptides and Proteins
MH  - *Encephalitis/genetics/complications
MH  - *Limbic Encephalitis
MH  - Seizures
MH  - HLA-DRB1 Chains/genetics
MH  - Autoantibodies
OTO - NOTNLM
OT  - Autoimmune encephalitis
OT  - Familial
OT  - Genetics
OT  - HLA
OT  - LGI1
COIS- Declaration of Competing Interest None.
EDAT- 2023/04/11 06:00
MHDA- 2023/05/08 06:41
CRDT- 2023/04/10 18:03
PHST- 2023/02/26 00:00 [received]
PHST- 2023/04/01 00:00 [revised]
PHST- 2023/04/01 00:00 [accepted]
PHST- 2023/05/08 06:41 [medline]
PHST- 2023/04/11 06:00 [pubmed]
PHST- 2023/04/10 18:03 [entrez]
AID - S0165-5728(23)00070-X [pii]
AID - 10.1016/j.jneuroim.2023.578084 [doi]
PST - ppublish
SO  - J Neuroimmunol. 2023 May 15;378:578084. doi: 10.1016/j.jneuroim.2023.578084. Epub 
      2023 Apr 5.