U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Frontotemporal dementia with motor neuron disease(FTDMND; ALSFTD; FTDALS)

MedGen UID:
854771
Concept ID:
C3888102
Disease or Syndrome
Synonyms: ALSFTD; Amyotrophic Lateral Sclerosis And-Or Frontotemporal Dementia; Frontotemporal Dementia With Motor Neuron Disease; Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTDALS; FTDMND
SNOMED CT: Amyotrophic lateral sclerosis with frontotemporal dementia (1259124000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0017161
OMIM®: 105550
Orphanet: ORPHA275872

Definition

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFrontotemporal dementia with motor neuron disease

Recent clinical studies

Etiology

Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, Briner A, Rodriguez CM, Guo C, Akiyama T, Schmidt HB, Cummings BB, Wyatt DW, Kurylo K, Miller G, Mekhoubad S, Sallee N, Mekonnen G, Ganser L, Rubien JD, Jansen-West K, Cook CN, Pickles S, Oskarsson B, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Shorter J, Myong S, Green EM, Seeley WW, Petrucelli L, Gitler AD
Nature 2022 Mar;603(7899):124-130. Epub 2022 Feb 23 doi: 10.1038/s41586-022-04424-7. PMID: 35197626Free PMC Article
Panza F, Lozupone M, Seripa D, Daniele A, Watling M, Giannelli G, Imbimbo BP
Nat Rev Neurol 2020 Apr;16(4):213-228. Epub 2020 Mar 23 doi: 10.1038/s41582-020-0330-x. PMID: 32203398
Fang MY, Markmiller S, Vu AQ, Javaherian A, Dowdle WE, Jolivet P, Bushway PJ, Castello NA, Baral A, Chan MY, Linsley JW, Linsley D, Mercola M, Finkbeiner S, Lecuyer E, Lewcock JW, Yeo GW
Neuron 2019 Sep 4;103(5):802-819.e11. Epub 2019 Jul 1 doi: 10.1016/j.neuron.2019.05.048. PMID: 31272829Free PMC Article
Pattamatta A, Cleary JD, Ranum LPW
Trends Neurosci 2018 May;41(5):247-250. doi: 10.1016/j.tins.2018.03.010. PMID: 29703376Free PMC Article
Deng Z, Sheehan P, Chen S, Yue Z
Mol Neurodegener 2017 Dec 28;12(1):90. doi: 10.1186/s13024-017-0232-6. PMID: 29282133Free PMC Article

Diagnosis

Castellanos Otero P, Todd TW, Shao W, Jones CJ, Huang K, Daughrity LM, Yue M, Sheth U, Gendron TF, Prudencio M, Oskarsson B, Dickson DW, Petrucelli L, Zhang YJ
PLoS One 2024;19(4):e0298080. Epub 2024 Apr 18 doi: 10.1371/journal.pone.0298080. PMID: 38635657Free PMC Article
Risacher SL, Saykin AJ
Handb Clin Neurol 2019;167:191-227. doi: 10.1016/B978-0-12-804766-8.00012-1. PMID: 31753134Free PMC Article
Eisen A, Braak H, Del Tredici K, Lemon R, Ludolph AC, Kiernan MC
J Neurol Neurosurg Psychiatry 2017 Nov;88(11):917-924. Epub 2017 Jul 14 doi: 10.1136/jnnp-2017-315573. PMID: 28710326
Ilieva H, Maragakis NJ
Adv Neurobiol 2017;15:191-210. doi: 10.1007/978-3-319-57193-5_7. PMID: 28674982
Olney NT, Spina S, Miller BL
Neurol Clin 2017 May;35(2):339-374. doi: 10.1016/j.ncl.2017.01.008. PMID: 28410663Free PMC Article

Therapy

Panza F, Lozupone M, Seripa D, Daniele A, Watling M, Giannelli G, Imbimbo BP
Nat Rev Neurol 2020 Apr;16(4):213-228. Epub 2020 Mar 23 doi: 10.1038/s41582-020-0330-x. PMID: 32203398
Scoles DR, Pulst SM
Mov Disord 2019 Aug;34(8):1112-1119. Epub 2019 Jul 8 doi: 10.1002/mds.27782. PMID: 31283857
Simone R, Balendra R, Moens TG, Preza E, Wilson KM, Heslegrave A, Woodling NS, Niccoli T, Gilbert-Jaramillo J, Abdelkarim S, Clayton EL, Clarke M, Konrad MT, Nicoll AJ, Mitchell JS, Calvo A, Chio A, Houlden H, Polke JM, Ismail MA, Stephens CE, Vo T, Farahat AA, Wilson WD, Boykin DW, Zetterberg H, Partridge L, Wray S, Parkinson G, Neidle S, Patani R, Fratta P, Isaacs AM
EMBO Mol Med 2018 Jan;10(1):22-31. doi: 10.15252/emmm.201707850. PMID: 29113975Free PMC Article
Ilieva H, Maragakis NJ
Adv Neurobiol 2017;15:191-210. doi: 10.1007/978-3-319-57193-5_7. PMID: 28674982

Prognosis

Wang Q, Conlon EG, Manley JL, Rio DC
Genome Res 2020 Dec;30(12):1705-1715. Epub 2020 Oct 14 doi: 10.1101/gr.265298.120. PMID: 33055097Free PMC Article
Iazzolino B, Pain D, Peotta L, Calvo A, Moglia C, Canosa A, Manera U, Ilardi A, Bombaci A, Zucchetti JP, Mora G, Chio A
J Neurol Neurosurg Psychiatry 2019 Jul;90(7):734-739. Epub 2019 Feb 7 doi: 10.1136/jnnp-2018-319696. PMID: 30733331
Ilieva H, Maragakis NJ
Adv Neurobiol 2017;15:191-210. doi: 10.1007/978-3-319-57193-5_7. PMID: 28674982
Beauchet O, Annweiler C, Callisaya ML, De Cock AM, Helbostad JL, Kressig RW, Srikanth V, Steinmetz JP, Blumen HM, Verghese J, Allali G
J Am Med Dir Assoc 2016 Jun 1;17(6):482-90. Epub 2016 Feb 4 doi: 10.1016/j.jamda.2015.12.092. PMID: 26852960Free PMC Article
Coon EA, Sorenson EJ, Whitwell JL, Knopman DS, Josephs KA
Neurology 2011 May 31;76(22):1886-93. doi: 10.1212/WNL.0b013e31821d767b. PMID: 21624986Free PMC Article

Clinical prediction guides

Parameswaran J, Zhang N, Braems E, Tilahun K, Pant DC, Yin K, Asress S, Heeren K, Banerjee A, Davis E, Schwartz SL, Conn GL, Bassell GJ, Van Den Bosch L, Jiang J
Elife 2023 Apr 19;12 doi: 10.7554/eLife.85902. PMID: 37073950Free PMC Article
Coyne AN, Zaepfel BL, Hayes L, Fitchman B, Salzberg Y, Luo EC, Bowen K, Trost H, Aigner S, Rigo F, Yeo GW, Harel A, Svendsen CN, Sareen D, Rothstein JD
Neuron 2020 Sep 23;107(6):1124-1140.e11. Epub 2020 Jul 15 doi: 10.1016/j.neuron.2020.06.027. PMID: 32673563Free PMC Article
Lehmkuhl EM, Zarnescu DC
Adv Neurobiol 2018;20:283-301. doi: 10.1007/978-3-319-89689-2_11. PMID: 29916024Free PMC Article
Beauchet O, Annweiler C, Callisaya ML, De Cock AM, Helbostad JL, Kressig RW, Srikanth V, Steinmetz JP, Blumen HM, Verghese J, Allali G
J Am Med Dir Assoc 2016 Jun 1;17(6):482-90. Epub 2016 Feb 4 doi: 10.1016/j.jamda.2015.12.092. PMID: 26852960Free PMC Article
Coon EA, Sorenson EJ, Whitwell JL, Knopman DS, Josephs KA
Neurology 2011 May 31;76(22):1886-93. doi: 10.1212/WNL.0b013e31821d767b. PMID: 21624986Free PMC Article

Recent systematic reviews

Simon N, Goldstein LH
Amyotroph Lateral Scler Frontotemporal Degener 2019 Feb;20(1-2):1-11. Epub 2018 Dec 26 doi: 10.1080/21678421.2018.1530264. PMID: 30585510
Majumder V, Gregory JM, Barria MA, Green A, Pal S
BMC Neurol 2018 Jun 28;18(1):90. doi: 10.1186/s12883-018-1091-7. PMID: 29954341Free PMC Article
Beauchet O, Annweiler C, Callisaya ML, De Cock AM, Helbostad JL, Kressig RW, Srikanth V, Steinmetz JP, Blumen HM, Verghese J, Allali G
J Am Med Dir Assoc 2016 Jun 1;17(6):482-90. Epub 2016 Feb 4 doi: 10.1016/j.jamda.2015.12.092. PMID: 26852960Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...