KEGG   DISEASE: Frontotemporal dementia and amyotrophic lateral sclerosis
Entry
H02342                      Disease                                
Name
Frontotemporal dementia and amyotrophic lateral sclerosis
  Supergrp
Amyotrophic lateral sclerosis (ALS) [DS:H00058]
Frontotemporal lobar degeneration [DS:H00078]
Description
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases may converge into a common pathogenetic pathway, explaining the overlap of clinical symptoms.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Motor neuron diseases or related disorders
   8B60  Motor neuron disease
    H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
Related
pathway
hsa05014 Amyotrophic lateral sclerosis   
hsa04140 Autophagy   
hsa05022 Pathways of neurodegeneration - multiple diseases   
Gene
(FTDALS1) C9orf72 [HSA:203228] [KO:K23609]
(FTDALS2) CHCHD10 [HSA:400916] [KO:K22759]
(FTDALS3) SQSTM1 [HSA:8878] [KO:K14381]
(FTDALS4) TBK1 [HSA:29110] [KO:K05410]
(FTDALS5) CCNF [HSA:899] [KO:K10289]
(FTDALS6) VCP [HSA:7415] [KO:K13525]
(FTDALS7) CHMP2B [HSA:25978] [KO:K12192]
(FTDALS8) CYLD [HSA:1540] [KO:K08601]
Other DBs
ICD-11: 8B60.5
ICD-10: G12.2
MeSH: C566288
OMIM: 105550 615911 616437 616439 619141 619132 613954 600795
Reference
PMID:23393093 (C9orf72)
  Authors
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D
  Title
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
  Journal
Science 339:1335-8 (2013)
DOI:10.1126/science.1232927
Reference
PMID:24934289 (CHCHD10)
  Authors
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, Le Ber I, Auge G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V
  Title
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
  Journal
Brain 137:2329-45 (2014)
DOI:10.1093/brain/awu138
Reference
PMID:22972638 (SQSTM1)
  Authors
Rubino E, Rainero I, Chio A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L
  Title
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
  Journal
Neurology 79:1556-62 (2012)
DOI:10.1212/WNL.0b013e31826e25df
Reference
PMID:25803835 (TBK1)
  Authors
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Muller K, Marroquin N, Nordin F, Hubers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordstrom U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brannstrom T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH
  Title
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
  Journal
Nat Neurosci 18:631-6 (2015)
DOI:10.1038/nn.4000
Reference
PMID:27080313 (CCNF)
  Authors
Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Munoz-Blanco JL, Esteban-Perez J, Rabano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, Garcia-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP
  Title
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
  Journal
Nat Commun 7:11253 (2016)
DOI:10.1038/ncomms11253
Reference
PMID:21145000 (VCP)
  Authors
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurro MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, Galassi G, Scholz SW, Taylor JP, Restagno G, Chio A, Traynor BJ
  Title
Exome sequencing reveals VCP mutations as a cause of familial ALS.
  Journal
Neuron 68:857-64 (2010)
DOI:10.1016/j.neuron.2010.11.036
Reference
PMID:16807408 (CHMP2B)
  Authors
Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM
  Title
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
  Journal
Neurology 67:1074-7 (2006)
DOI:10.1212/01.wnl.0000231510.89311.8b
Reference
PMID:32185393 (CYLD)
  Authors
Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB
  Title
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
  Journal
Brain 143:783-799 (2020)
DOI:10.1093/brain/awaa039

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