Abstract Body

Dementia with Lewy bodies (DLB) is characterized by mixed pathology, Lewy bodies and neurites as well as concomitant AD pathology. This heterogeneity is reflected in a variable and frequently non-specific clinical picture. Mutations in the GBA gene are frequent among patients with DLB worldwide however among Ashkenazi Jewish patients with DLB, the prevalence of GBA mutations is very high and is approximately 33%. Mutations in the GBA gene appear to have multiple and varied effects on clinical presentation as well as on pathology - both of which are an important focus of research worldwide. In order to improve the accuracy of diagnosis and subsequent clinical management, the genetic factors that influence disease need to be better understood. In this lecture I will present recent work from our institution and others, which have examined the impact of GBA mutations and several other common genetic factors on the development and progression of DLB.