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May 7, 2026Brain2 citationsOpen Access

The cascade to pathogenicity in autoantibody-mediated CNS diseases

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FMFederico MontiniEWElinor WingMHMax Herman

Key Points

  • This study aims to reconstruct the cascade of events leading to pathogenicity in autoantibody-mediated central nervous system diseases and explore precision medicine approaches.
  • Review of current literature on major autoantibody-mediated CNS diseases and their mechanisms.
  • Analysis of clinical features, immunological processes, and triggering events associated with different autoantibodies.
  • Identified distinct cascades of pathogenicity in conditions like autoimmune encephalitis and neuromyelitis optica.
  • Revealed similarities and differences in triggering events and immunological processes across these diseases.
  • Proposed models that may lead to targeted therapies for improved patient outcomes.

Abstract

The discovery of pathogenic neuroglial-surface directed autoantibodies (NGSAbs) has fundamentally transformed clinical neurology, by enabling molecular-level diagnoses in potentially treatable, yet previously unrecognised, diseases. Annual descriptions of novel CNS-targeting antibodies create a continuous stream of new conditions in which to evaluate distinct phenotypes, specific tumour associations and immunotherapy responses. Alongside this clinical growth, increasing basic knowledge has highlighted origins and mechanisms underlying disease causation, most comprehensively interrogated in the well-established autoantibody-mediated conditions of autoimmune encephalitis (AE), neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The corresponding most common 'big six' autoantigens are LGI1, the NMDA receptor, CASPR2, IgLON5, in forms of AE, AQP4 and MOG. Each of these autoantigens associates with a homogenous set of basic clinical features, across age, sex, tumour associations and ethnicities, coupled with partly distinctive profiles of triggers and predispositions, paradigms of immune tolerance escape in the periphery, how cells and autoantibodies gain access to the CNS and discrete mechanisms by which the CNS autoantibodies induce neuroglial dysfunction. These observations lead us to reconstruct a proposed chronological series of events as the "cascade to pathogenicity", which together culminate in a rare CNS disease. By extension, we hypothesize elucidating the underlying biology of each condition will present differing precision medicine approaches to optimize patient care. Despite distinctions, there are also clinical and biological overlaps between these diseases, collectively creating opportunities to compare and contrast their individual features. Here, in each condition, we review current knowledge regarding the similarities and differences between the triggering events, underlying immunological processes and pathogenic mechanisms of autoantibodies. In some instances, we identify scientific clues which drive hypothetical pathways of pathogenesis and, for others, highlight striking observations which aim to generate hypothesis-driven next steps. Our aim is to construct a model across the major autoantibody-mediated CNS diseases to highlight distinct components of cascades to pathogenicity which may offer targeted therapeutic approaches to improve patient outcomes, and identify key areas and questions for future research.

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Cite This Study

Montini et al. (2026) studied this question.

synapsesocial.com/papers/69fc2c718b49bacb8b347ef3https://doi.org/10.1093/brain/awag158
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