KEGG DISEASE: Frontotemporal lobar degeneration

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 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

Pathway

Wnt signaling pathway

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:

ICD-10:

MeSH:

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

LinkDB

» Japanese version

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