Abstract
The detection of neuronal surface protein autoantibody-related disorders has contributed to several changes in our understanding of central nervous system autoimmunity. The clinical presentation of these disorders may be associated (or not) with tumors, and often patients develop an inexplicable onset of epilepsy, catatonic or autistic features, or memory and cognitive dysfunctions. The autoantigens in such cases have critical roles in synaptic transmission and plasticity, memory function, and process learning. For months, patients with such antibodies may be comatose or encephalopathic and yet completely recover with palliative care and immunotherapies. This paper reviews several targets of neuronal antibodies as biomarkers in seizure disorders, focusing mainly on autoantibodies, which target the extracellular domains of membrane proteins, namely leucine-rich glioma-inactivated-1 (LGI1), contactin-associated protein-like 2 (CASPR2), the N-methyl-D-aspartate receptor (NMDAR), γ-aminobutyric acid receptor-B (GABABR), the glycine receptor (GlyR), and a-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs). In order to restore health status, limit hospitalization, and optimize results, testing these antibodies should be done locally, using internationally certified procedures for a precise and rapid diagnosis, with the possibility of initiating therapy as soon as possible.
Highlights
Over the last decade, contrary to established knowledge, a series of autoantibody-mediated seizure-associated disorders have been identified
Facio-brachial dystonic seizures (FBDSes) are specific to leucine-rich glioma-inactivated-1 (LGI1) encephalitis, and they appear in up to 70% of patients: they have a duration of less than 30 s, they have a frequency of 10–100 times per day, and they most often occur before the development of cognitive disturbance [38,43,44,51]
With only a dozen cases diagnosed so far, amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs) autoantibodies associated with encephalitis are often accompanied by an acute to subacute onset, with the signs being dependent on the area of the brain involved, such as the limbic and cerebral encephalitis or encephalomyelitis [85,87]
Summary
Contrary to established knowledge, a series of autoantibody-mediated seizure-associated disorders have been identified. There is limited knowledge on how autoantibodies against the different neuronal surface proteins could determine such a variety of diverse clinical patterns, and the identification of new autoantibodies is one of the state-of-art methods used in elucidating the pathogenesis and classification of these seizure-associated disorders. Antibody binding, internalization, and damage of the specific surface antigens, together with the activation of complements, are designated factors involved in physio-pathological mechanisms [3]. At this point, there is a demonstrated need to extend the knowledge on the pathophysiology of these conditions and to improve diagnostic methods, which will subsequently have obvious positive consequences on more effective and precise therapies. The symptoms relate mainly to the disruption of the target antigen
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