I am an associate professor and consultant neurologist with clinical and laboratory experiences in the field of autoantibody mediated diseases of the nervous system, in particular the central nervous system. I care for patients with these disorders and run a research group to learn more about the origins and treatments of these diseases. I have studied the antigenic targets of autoantibodies in patients with encephalitis and epilepsies. In particular, my research has focused on LGI1, CASPR2 and the NMDA-receptor. In addition, I have been involved with projects examining autoantibodies against the GABA-receptor, glycine receptors and aquaporin-4.
Along with colleagues, I have looked after and met multiple patients with these disorders, phenotyped these patients in great detail, and characterised their clinical responses to therapies. These findings have generated, often distinctive, clinical features which correlate well with a high likelihood of an immunotherapy-responsive condition. They have also identified novel clinical descriptions of patients with cognitive, movement and seizure disorders, in particular faciobrachial dystonic seizures – a novel autoimmune epilepsy syndrome which often responds better to immunotherapies than conventional anti-epileptic drugs. I am currently exploring new antigenic targets, improved methods to measure antibody levels, mechanisms of antibody action and methods to study novel therapeutic agents as part of a Wellcome Trust Intermediate Fellowship.
The autoimmune encephalopathies are an expanding group of potentially treatable neuropsychiatric syndromes. A number of these syndromes are believed to be mediated by autoantibodies directed against neuronal membrane proteins. Correspondingly, the patients often respond well to immunotherapies including corticosteroids, plasma exchange, intravenous immunoglobulins, cyclophosphamide and/or rituximab. Furthermore, early immunotherapy improves outcomes.
There are now established distinctive clinical clues to diagnose these diseases including patient demographics. In particular, the movement disorder associated with NMDA-receptor antibodies, and the faciobrachial dystonic seizures in patients with LGI1- antibodies. Other less common antibody targets include the glycine receptor, GABAB-receptor, CASPR2 and DPPX which also associate with specific clinical features.
In this talk, I will discuss these clinical features in the context of the methods used to detect the autoantibodies, and review strategies for identification, differential diagnosis, investigation and treatment of the patients.