KEGG   DISEASE: H00078Help
Entry
H00078                      Disease                                

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
BRITE hierarchy
Pathway
MAPK signaling pathway
Protein processing in endoplasmic reticulum
Endocytosis
Wnt signaling pathway
Notch signaling pathway
Neurotrophin signaling pathway
Gene
(Pick disease/ FTD/ PSNP1) MAPT [HSA:4137] [KO:K04380]
(Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505]
(UP-FTD) GRN [HSA:2896]
(IBMPFD) VCP [HSA:7415] [KO:K13525]
(FTD3) CHMP2B [HSA:25978] [KO:K12192]
Comment
Disease class: tauopathy
Affected region: frontal lobe, temporal lobe
Microscopic lesion: Pick bodies
Other DBs
Reference
  Authors
Neumann M, Tolnay M, Mackenzie IR
  Title
The molecular basis of frontotemporal dementia.
  Journal
Expert Rev Mol Med 11:e23 (2009)
Reference
  Authors
Trojanowski JQ, Duff K, Fillit H, Koroshetz W, Kuret J, Murphy D, Refolo L
  Title
New directions for frontotemporal dementia drug discovery.
  Journal
Alzheimers Dement 4:89-93 (2008)
Reference
  Authors
Bigio EH
  Title
Update on recent molecular and genetic advances in frontotemporal lobar degeneration.
  Journal
J Neuropathol Exp Neurol 67:635-48 (2008)
Reference
  Authors
Kertesz A
  Title
Pick complex--historical introduction.
  Journal
Alzheimer Dis Assoc Disord 21:S5-7 (2007)
Reference
  Authors
Mackenzie IR, Rademakers R
  Title
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
  Journal
Neurogenetics 8:237-48 (2007)
Reference
  Authors
Rademakers R, Hutton M
  Title
The genetics of frontotemporal lobar degeneration.
  Journal
Curr Neurol Neurosci Rep 7:434-42 (2007)
Reference
  Authors
van der Zee J, Gijselinck I, Pirici D, Kumar-Singh S, Cruts M, Van Broeckhoven C.
  Title
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.
  Journal
Neurodegener Dis 4:227-35 (2007)
Reference
  Authors
Kennedy JL, Farrer LA, Andreasen NC, Mayeux R, St George-Hyslop P.
  Title
The genetics of adult-onset neuropsychiatric disease: complexities and conundra?
  Journal
Science 302:822-6 (2003)
Reference
  Authors
Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, Kovacs GG, Ghetti B, Halliday G, Holm IE, Ince PG, Kamphorst W, Revesz T, Rozemuller AJ, Kumar-Singh S, Akiyama H, Baborie A, Spina S, Dickson DW, Trojanowski JQ, Mann DM
  Title
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.
  Journal
Acta Neuropathol 119:1-4 (2010)

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