H00078 | |
H number | H00078 |
Name | Frontotemporal lobar degeneration |
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 |
Network | - |
Gene | (Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Disease class: tauopathy Affected region: frontal lobe, temporal lobe Microscopic lesion: Pick bodies |
Other DBs | ICD-11: 8A23 ICD-10: G31.0 MeSH: D057174 OMIM: 172700 600274 607485 |
Reference | PMID:19638255 (MAPT, PSEN1, GRN) AUTHORS Neumann M, Tolnay M, Mackenzie IR TITLE The molecular basis of frontotemporal dementia. JOURNAL Expert Rev Mol Med 11:e23 (2009) DOI:10.1017/S1462399409001136 PMID:30158706 (MAPT) AUTHORS Falcon B, Zhang W, Murzin AG, Murshudov G, Garringer HJ, Vidal R, Crowther RA, Ghetti B, Scheres SHW, Goedert M TITLE Structures of filaments from Pick's disease reveal a novel tau protein fold. JOURNAL Nature 561:137-140 (2018) DOI:10.1038/s41586-018-0454-y PMID:23489366 (PSEN1) AUTHORS Riudavets MA, Bartoloni L, Troncoso JC, Pletnikova O, St George-Hyslop P, Schultz M, Sevlever G, Allegri RF TITLE Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation. JOURNAL Brain Pathol 23:595-600 (2013) DOI:10.1111/bpa.12051 PMID:17278999 (GRN) AUTHORS Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, Dickson DW TITLE Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. JOURNAL J Neuropathol Exp Neurol 66:142-51 (2007) DOI:10.1097/nen.0b013e31803020cf |