Rare Immunology News

Disease Profile

Limbic encephalitis with LGI1 antibodies

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies

Categories

Nervous System Diseases

Summary

Limbic encephalitis with LGI1 antibodies is a relatively new disease characterized by progressive memory loss, confusion, sleep disturbances, and problems with behaviors and spatial orientation. Seizures are common and frequently precede other symptoms. About half of people with this diagnosis exhibit a specific type of seizure called faciobrachial dystonic seizures, which resemble brief jerks of the face arm.[1][2][3][4][5][6] Hyponatremia (low levels of sodium in the blood) may also be present.[1][3][6] The disease occurs when antibodies mistakenly attack LGI1 (leucine-rich glioma inactivated 1), a protein found in the brain that binds together two epilepsy-related proteins called ADAM22 and ADAM23.[1][5][6] Some people with limbic encephalitis with LGI1 antibodies (5 to 10%) also have a cancer diagnosis (most commonly thymoma and lung cancer), but most do not.[1][6] 

The disease is diagnosed through testing of blood or spinal fluid for LGI1 antibodies.[1][3][5] If treatment is started when seizures are first noticed, limbic encephalitis may be prevented.[1][2] Treatment is intravenous or oral corticosteroids, intravenous immunoglobulin (IVIG), plasmapheresis (a process where antibodies are removed from the blood), or a combination of these.[1][3][5][6] Long-term outcome is mostly favorable, although some people are left with some degree of residual impairment. Relapse occurs in up to one third of patients.[1][5][7][8]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Limbic encephalitis with LGI1 antibodies. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. van Sonderen A, Schreurs MW, Wirtz PW, Sillevis Mitt PA, Titulaer MJ. From VGKC to LGI1 and Caspr2 encephalitis: The evolution of a disease entity over time. Autoimmun Rev. 2016 Oct; 15(10):970-4. https://www.sciencedirect.com/science/article/pii/S156899721630163X?via%3Dihub.
          2. Belmer NJ, Selwa LM. Seizure semiology of anti-LGI1 antibody encephalitis. Epileptic Disord. 2017 Nov 24; https://www.ncbi.nlm.nih.gov/pubmed/29171405.
          3. Yu J, Yu X, Fang S, Zhang Y, Lin W. The Treatment and Follow-Up of Anti-LGI1 Limbic Encephalitis. Eur Neurol. 2016; 75(1-2):5-11. https://www.ncbi.nlm.nih.gov/pubmed/26694143.
          4. Lee JJ, Lee ST, Jung KH, Chu K, Lee SK. Anti-LGI1 Limbic Encephalitis Presented with Atypical Manifestations. Exp Neurobiol. 2013 Dec; 22(4):337-340. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897696/.
          5. Irani S. LGI1/CASPR2-Antibody Encephalitis. Encephalitis Society. September 2017; https://www.encephalitis.info/lgi1caspr2-antibody-encephalitis.
          6. Dalmau J. Paraneoplastic and autoimmune encephalitis. UpToDate. July 26, 2017; https://www.uptodate.com/contents/paraneoplastic-and-autoimmune-encephalitis.
          7. van Sonderen A, THijs RD, Voenders EC, Jiskoot LC, Sanchez E, se Bruijn MA, van Coevorden-Hameete MH, Wirtz PW, Schreurs MW, Sillevis Smitt PA, Titulaer MJ. Anti-LGI1 encephalitis: Clinical syndrome and long-term follow-up. Neurology. 2016 Oct 4; 87(14):1449-1456. https://www.ncbi.nlm.nih.gov/pubmed/27590293.
          8. Ariño H, Armangué T, Petit-Pedrol M, Sabater L, Martinez-Hernandez E, Hara M, Lancaster E, Saiz A, Dalmau J, Graus F. Anti-LGI1–associated cognitive impairment: Presentation and long-term outcome. Neurology. 2016 Aug 23; 87(8):759-65. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999321/.