Study shows non-heritable but consistent genetic predisposition in some cases of AE

Researchers recently released a study in the journal Brain, in which they revealed interesting discoveries about the subtypes of AE associated with LGI1 and CASPR2 antibodies. There is clinical overlap between these two syndromes and, although rare, some patients present with both types of antibodies. These types of AE often present in males, typically in their sixth decade of life (there are exceptions). The authors suspected the possibility of a genetic predisposition to developing LGI1-antbody AE as it has been formerly known that individuals carrying specific genes have a predisposition to adverse drug reactions, and they had observed frequent drug reactions in patients with these antibodies.

In this study of 111 patients they reported that indeed, distinct genetic predispositions do exist for developing antibodies to LGI1, but also for CASPR2. This was discovered by comparisons made between these groups and with large numbers of healthy individuals. However, a group of patients with typical LGI1 or CASPR2-antibody diseases were not recognised to carry these genes. Therefore, and also because the gene frequencies in healthy controls were very high, it must also be noted that there are unknown additional factors that cause the disease process to begin in predisposed individuals. Another interesting discovery in the study was that the discovered genes – which encode Human Leucocyte Antigen (HLA) or major histocompatibility class (MHC) II proteins – encode molecules which strongly pointed towards T-cells as important effectors in the underlying diseases. For the full article, please clink on the link here.

We thank the researchers at the Oxford Autoimmune Neurology Group, the University of San Francisco Department of Neurology, and the others involved who made this research possible and are carrying it forward. Thanks also to Dr. Sarosh Irani for his edits of this post.