Pick disease Frontotemporal dementia (FTD) Frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLDU) Progressive supranuclear palsy (PSNP) [DS:H00077] Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DS:H02031] Frontotemporal dementia and amyotrophic lateral sclerosis [DS:H02342]
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.
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders with neurocognitive impairment as a major feature
8A23 Frontotemporal lobar degeneration
H00078 Frontotemporal lobar degeneration