The Genetics of Dementia With Lewy Bodies

Abstract

Aims Dementia with Lewy bodies (DLB) is one of the most underserved common diseases. From clinical to pathological aspects, DLB is often a difficult disease to diagnose. The genetics of DLB has been tremendously understudied and only recently have we started to tease out the genetic aspects of DLB. This has been possible largely due to recent advances in technology and collaborative approaches that have allowed us to query the genome of large numbers of individuals. The vast majority of publications dealing with the genetics of DLB have been of very small size (in the region of 100 cases), which is not comparable with recent work performed in other neurodegenerative diseases. Method Here, I will discuss recent findings in the genetics of DLB, including large genome-wide association studies and sequencing efforts designed to identify novel causative and risk factors for this disease and that are currently underway. Results So far these studies have highlighted several genes known to be involved in neurodegenerative diseases, most notably: SNCA and APOE. The involvement of both genes is not entirely surprising and is in line with what we know occurs at the pathological level in this disease. DLB-specific causes and risk factors have so far not been identified. Conclusion We now know genetics plays a significant role in the etiology of DLB, despite the fact that the findings so far have only pointed to genes also involved in other neurodegenerative diseases.