Autoimmune Neurology Group
Our group works on antibody-mediated neurological diseases, identifying new antibody targets, characterising the clinical phenotype associated with these antibodies and trying to understand the mechanism by which they cause disease.
Earlier work of our group focused on antibodies to neuromuscular junction proteins in forms of autoimmune myasthenia gravis and the Lambert-Eaton myasthenic syndrome, and the role of maternal antibodies to foetal proteins in neurodevelopmental disorders.
In 2001 we showed that, contrary to the prevailing belief, antibodies can cause central nervous system disease. Many patients have since been diagnosed and the antigens defined as the potassium channel complex proteins (LGI1 and CASPR2). Other central nervous system diseases associated with antibodies (to glycine receptors, NMDA receptors) have now been identified in Oxford and elsewhere, with more discoveries in progress.
Our lab carries out specialised assays for the diagnosis of neuroimmunological disease:
DPPX: Antibodies to dipeptidyl aminopeptidase-like protein 6 (DPPX) have been identified in encephalitis patients with prominent delirium, gastrointestinal disturbance (especially diarrhoea), weight loss, myoclonus, other movement disorders and few seizures. Boronat et al Ann Neurol 2013;73:120–128, Tobin et al Neurology 2014;83:1797–1803.
D2R: Antibodies to the dopamine receptor 2 have been described in children with basal ganglia encephalitis, including a prominent movement disorder. In our experience to date, these antibodies are rare. Dale et al Brain 2012: 135; 3453–3468
GABAAR: Antibodies to the GABAAR have been identified in patients with an encephalitis including refractory seizures, and diffuse neuropsychiatric features, often with CSF pleocytosis and brain imaging abnormalities. Petit-Pedrol et al Lancet Neurol 2014; 13: 276–86; Pettingill et al Neurology 2015;84:1233–1241.