Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations in progranulin and valosin are associated with TDP-43 inclusions. The CHMP2B mutations are associated with ubiquitin-positive pathology.
