The genetics of dementia with Lewy bodies

Abstract

Dementia with Lewy bodies (DLB), the most common non-AD neurodegenerative disease has in the past several decades attracted the attention of the neurological scientific community due to its highly negative impact on the quality of life of both the affected individuals and those caring for them. The strong hereditary component in related conditions such as PD and AD and the description of a number of DLB families suggest that genetic factors may play a role in the pathogenesis of DLB. This chapter focuses on currently proposed causal and risk genes and their role in the pathophysiology of DLB, discusses the feasibility of genetic therapy and genetic testing in the diagnostic and treatment of DLB and provides directions for future research. While no single mutation is specific enough to support its regular use in the diagnosis/treatment of DLB, identification of combinations of causative gene or single-gene point mutations and risk genes interfering with the pathogenesis of DLB may help elucidate the genetic mechanisms involved in DLB and inform development of gene-specific therapies.

Keywords: causal genes in DLB; genetic testing in DLB; genetic therapies in DLB; genetics and DLB diagnosis; susceptibility genes in DLB.