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CC BY 4.0 · Arq Neuropsiquiatr 2024; 82(12): s00441793933
DOI: 10.1055/s-0044-1793933
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Recent advances in autoimmune encephalitis

Avanços recentes em encefalite autoimune

Autoren

  • João Henrique Fregadolli Ferreira 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.

  • Caio César Diniz Disserol 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.
    2   Universidade Federal do Paraná, Hospital de Clínicas, Curitiba PR, Brazil.
    3   Instituto de Neurologia de Curitiba, Curitiba PR, Brazil.

  • Bruna de Freitas Dias 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.

  • Alexandre Coelho Marques 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.

  • Marina Driemeier Cardoso 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.

  • Pedro Victor de Castro Silva 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.

  • Fabio Fieni Toso 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.

  • Lívia Almeida Dutra 

    1   Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.
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Abstract

Since the description of autoimmune encephalitis (AE) associated with N-methyl-D-aspartate receptor antibodies (anti-NMDARE) in 2007, more than 12 other clinical syndromes and antibodies have been reported. In this article, we review recent advances in pathophysiology, genetics, diagnosis pitfalls, and clinical phenotypes of AE associated with cell surface antibodies and anti-GAD associated neurological syndromes. Genetic studies reported human leukocyte antigen (HLA) associations for anti-LGI1, anti-Caspr2, anti-IgLON5, and anti-GAD. Follow-up studies characterized cognitive dysfunction, psychiatric symptoms, sleep disorders, and adaptative behavior dysfunction, mainly for anti-NMDARE. Late-onset anti-NMDARE and anti- GABA-B receptor (GABA-BR) encephalitis patients were described to have worse prognoses and different tumor associations. Additionally, the clinical spectrum of anti-LGI1, anti-AMPAR, anti-CASPR2, and anti-IgLON5 was expanded, comprising new differential diagnoses. The diagnostic criteria for AE were adapted to the pediatric population, and a diagnostic algorithm was proposed, considering potential mimics and misdiagnosis. We also review the limitations of commercial assays for AE and treatment recommendations, as well as clinical scales for short and long-term assessment of AE patients, along with cognitive evaluation.

Resumo

Desde a descrição da encefalite autoimune (EA) associada a anticorpos contra o receptor N-methyl-D-aspartate (anti-NMDARE) em 2007, mais de 12 síndromes clínicas e anticorpos foram reportados. Neste artigo, revisamos avanços recentes na fisiopatologia, genética, diagnóstico e fenótipos clínicos da EA associada a anticorpos contra antígenos de superfície e das síndromes neurológicas associadas aos anticorpos anti-acido glutâmico decarboxilase (glutamic acid decarboxylase, GAD, em inglês). Estudos genéticos revelaram associações do antígeno leucocitário humano (human leukocyte antigen, HLA, en inglês) com as EAs anti-LGI1, anti-Caspr2, anti-IgLON5 e anti-GAD. Estudos de seguimento caracterizaram disfunção cognitiva, sintomas psiquiátricos, distúrbios do sono e disfunção do comportamento adaptativo, principalmente para anti-NMDARE. Apresentações tardias de anti-NMDARE e anti-GABA-BR foram associadas a outros tumores e a pior desfecho. Ademais, o fenótipo clínico de anti-LGI1, anti-AMPAR, anti-CASPR2 e anti-IgLON5 foi expandido, englobando outros diagnósticos diferenciais. Os critérios diagnósticos para a EA foram adaptados para a população pediátrica, e foi proposto um novo algoritmo diagnóstico levando em consideração potenciais condições mimetizadoras e erros diagnósticos. Foram revisadas também as limitações dos kits comerciais para testagem, recomendações atuais para o tratamento e escalas clínicas para o seguimento de curto e longo-prazo dos pacientes, incluindo a avaliação cognitiva.

Keywords

Autoimmune Diseases of the Nervous System - Anti-N-Methyl-D-Aspartate Receptor Encephalitis - Rituximab

Palavras-chave

Doenças Autoimunes do Sistema Nervoso - Encefalite Antirreceptor de N-Metil-D-Aspartato - Rituximab

Authors' Contributions

JHFF, CCDD, BFD, LAD: substantial contributions to the design or development of the study, to the collection, analysis, and interpretation of data, to the writing of the article or its critical revision, and to the approval of the final version. ACM, MDC, PVCS: substantial contributions to the design or development of the study, to the collection, analysis and interpretation of data, and to the writing of the article or in critical revision.


Editor-in-Chief: Ayrton Roberto Massaro.


Associate Editor: Tarso Adoni.




Publikationsverlauf

Eingereicht: 11. Juni 2024

Angenommen: 18. August 2024

Artikel online veröffentlicht:
20. Dezember 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
João Henrique Fregadolli Ferreira, Caio César Diniz Disserol, Bruna de Freitas Dias, Alexandre Coelho Marques, Marina Driemeier Cardoso, Pedro Victor de Castro Silva, Fabio Fieni Toso, Lívia Almeida Dutra. Recent advances in autoimmune encephalitis. Arq Neuropsiquiatr 2024; 82: s00441793933.
DOI: 10.1055/s-0044-1793933