INDIVIDUAL TEST 878
Sez6L2 Antibodies (IgG)
Indication
Suspicion of autoimmune encephalitis.
Method
The analysis was performed with cell-based assay (CBA), indirect immunofluorescence. The method is not yet validated for clinical routine diagnostic purposes.
Result
Results are reported as negative or positive with a titer
Can be tested in serum and CSF.
Interpretation
Seizure-related 6 homolog like 2 is a type 1 transmembrane protein highly expressed in the brain, particularly in the hippocampus and cerebellum.
Antibodies against Sez6L2 are associated with a variety of neurological symptoms like cerebellar ataxia, dysarthria, and extrapyramidal symptoms.
References
- Yaguchi H et al. Anti-Sez6l2 antibody detected in a patient with immune-mediated cerebellar ataxia inhibits complex formation of GluR1 and Sez6l2. J Neurol. 2018 Apr;265(4):962-965. doi: 10.1007/s00415-018-8785-z. Epub 2018 Feb 8. PMID: 29423613.
- Borsche M et al. Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism. J Neurol. 2019 Feb;266(2):522-524. doi: 10.1007/s00415-018-9115-1. Epub 2018 Nov 20. PMID: 30460451.
- Landa J et al. Seizure-related 6 homolog like 2 autoimmunity: Neurologic syndrome and antibody effects. Neurol Neuroimmunol Neuroinflamm. 2020 Nov 3;8(1):e916. doi: 10.1212/NXI.0000000000000916. PMID: 33144342; PMCID: PMC7641326.
- Mehdiyeva A, Hietaharju A, Sipilä J. SEZ6L2 Antibody-Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy. Neurol Neuroimmunol Neuroinflamm. 2022 Jan 14;9(2):e1131. doi: 10.1212/NXI.0000000000001131. PMID: 35031588; PMCID: PMC8759717.
Last updated: 2024-06-18
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ENSKILD ANALYS 878
Sez6L2-antikroppar (IgG)
Indikation
Misstanke om autoimmun encefalit.
Metod
Analysen har utförts med cell-based assay (CBA), indirekt immunofluorescens Metoden är ännu inte validerad för klinisk rutindiagnostik
Resultat
Resultat anges som negativt eller positivt med titer. Kan testas i serum och likvor.
Tolkning
Antikroppar mot Sez6L2 påvisade i serum.. Referensintervall: Titer <1:10.
Seizure-related 6 homolog like 2 är ett transmembran protein av typ 1 som uttrycks rikligt i cerebellum och hippocampus.
Antikroppar mot Sez6L2 kan ge varierande neurologiska symptom, vanligen cerebellär ataxi, dysartri och extrapyramidala symptom, men även kognitiv påverkan och epilepsi har rapporterats.
Referenser
- Yaguchi H et al. Anti-Sez6l2 antibody detected in a patient with immune-mediated cerebellar ataxia inhibits complex formation of GluR1 and Sez6l2. J Neurol. 2018 Apr;265(4):962-965. doi: 10.1007/s00415-018-8785-z. Epub 2018 Feb 8. PMID: 29423613.
- Borsche M et al. Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism. J Neurol. 2019 Feb;266(2):522-524. doi: 10.1007/s00415-018-9115-1. Epub 2018 Nov 20. PMID: 30460451.
- Landa J et al. Seizure-related 6 homolog like 2 autoimmunity: Neurologic syndrome and antibody effects. Neurol Neuroimmunol Neuroinflamm. 2020 Nov 3;8(1):e916. doi: 10.1212/NXI.0000000000000916. PMID: 33144342; PMCID: PMC7641326.
- Mehdiyeva A, Hietaharju A, Sipilä J. SEZ6L2 Antibody-Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy. Neurol Neuroimmunol Neuroinflamm. 2022 Jan 14;9(2):e1131. doi: 10.1212/NXI.0000000000001131. PMID: 35031588; PMCID: PMC8759717
Senast uppdaterat: 2024-06-18