H number H00078
Name Frontotemporal lobar degeneration (FTLD), including:
Pick disease of brain;
Frontotemporal dementia (FTD);
Ubiquitin-positive frontotemporal dementia (UP-FTD);
Progressive supranuclear palsy type 1 (PSNP1);
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD);
Frontotemporal dementia, chromosome 3-linked (FTD3)
Description 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.
Category Neurodegenerative disease