Next-generation approaches in autoimmune encephalitis diagnosis: A multi-omics perspective

Abstract

Autoimmune encephalitis (AE) is a group of autoantibody-mediated inflammatory disorders of the central nervous system (CNS) that often present with cognitive deficits, behavioral abnormalities, and seizures. The subtypical variability of AE calls for individualized treatments based on specific antibodies and clinical manifestations. Early and accurate diagnosis and standardized treatment are essential to improve prognosis and promote neurological recovery. Currently, clinical diagnosis of AE relies on the detection of specific antibodies in serum and cerebrospinal fluid (CSF). However, there is usually a delay in this approach, leading to late initiation of treatment, which may result in patients' disease progression yet still not effectively treated. For example, for some specific subtypes of AE, existing antibody tests may not capture all potential markers in time, making early diagnosis and subtyping challenging. In addition, certain AE patients have low antibody levels that make it difficult to confirm the diagnosis with conventional assays, resulting in a delayed diagnosis. Therefore, there is an urgent need for new methods to improve the efficiency of differential diagnosis based on the sensitivity, specificity, or accessibility issues faced by antibody-based diagnosis.

With the help of multi-omics technologies, potential biomarkers of AE can be identified through genomic, proteomic, and metabolomic analyses, leading to improved diagnosis. Multi-omics technologies have demonstrated great potential in the diagnosis and treatment of AE, especially in revealing new markers and improving early diagnosis, but the limitations of technological complexity high cost, and the problem of clinical applicability still need to be overcome. In the future, with technological advances and cost reductions, multi-omics approaches are expected to become an important tool for the early diagnosis of AE and promote more accurate and timely treatment.