KEGG   DISEASE: Frontotemporal lobar degeneration
Entry
H00078                      Disease                                
Name
Frontotemporal lobar degeneration
  Subgroup
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]
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00078  Frontotemporal lobar degeneration
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
Related
pathway
hsa04310  Wnt signaling pathway
hsa04330  Notch signaling pathway
Gene
(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380]
(Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505]
(FTLDU) GRN [HSA:2896] [KO:K23879]
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
Reference
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
Reference
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
Reference
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

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