FTD
MCID: FRN006
MIFTS: 66

Frontotemporal Dementia (FTD) malady

Summaries for Frontotemporal Dementia

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). spatial skills and memory remain intact. there is a strong genetic component to the disease; it often runs in families. there is no cure for frontotemporal dementia at this time, as a result treatment remains supportive.although the name and classification of ftd has been a topic of discussion for over a century, the current classification of the syndrome groups together pick’s disease, primary progressive aphasia, and semantic dementia as ftd. some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to ftd and calling the group pick complex. you can click on the links to view the gard pages on these conditions. last updated: 8/22/2011

MalaCards: Frontotemporal Dementia, also known as dementia, frontotemporal, is related to amyotrophic lateral sclerosis and lateral sclerosis. An important gene associated with Frontotemporal Dementia is PSEN1 (presenilin 1), and among its related pathways are Notch Pathway and Alzheimers Disease Pathway. The compounds thioflavine s and 4-hydroxynonenal have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and monocytes, and related mouse phenotypes are behavior/neurological and nervous system.

NINDS:44 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick?s disease, the name and classification of FTD has been a topic of discussion for over a century.

Wikipedia:64 Frontotemporal dementia (FTD), formerly known as disinhibition-dementia-parkinsonism-amyotrophy complex... more...

Description from OMIM:47 600274

Aliases & Classifications for Frontotemporal Dementia

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT
See all sources

Aliases & Descriptions:

frontotemporal dementia 8 43 44 10 45 61
dementia, frontotemporal 9 22 47
multiple system tauopathy with presenile dementia 8 61
frontotemporal lobar degeneration 8 61
pallidopontonigral degeneration 8 61
dementia, frontotemporal, with parkinsonism 43
frontotemporal dementia with parkinsonism 43
frontotemporal lobe dementia 43
wilhelmsen-lynch disease 8
mstd 43
ftd 43


External Ids:

Disease Ontology8 DOID:9255
SNOMED-CT57 42369001
OMIM47 600274

Related Diseases for Frontotemporal Dementia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Frontotemporal Dementia family:

frontotemporal dementia with parkinsonism-17 dementia, frontotemporal, with or without parkinsonism

Diseases related to Frontotemporal Dementia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1amyotrophic lateral sclerosis31.4GRN, CHMP2B, C9orf72, SNCA, CRYAB, PSEN1
2lateral sclerosis31.4SOD1, SNCA, MAPT
3alzheimer's disease31.2VCP, TARDBP, INA, MAPT, GRN, SNCA
4inclusion body myopathy with early-onset paget disease and frontotemporal dementia31.2MPFD, VCP
5aphasia31.1FUS, TARDBP, MAPT, GRN, C9orf72
6semantic dementia31.1MAPT, GRN, RPS27A
7primary progressive aphasia31.0MAPT, GRN, RPS27A
8progressive supranuclear palsy31.0MAPT, SNCA, APOE, RPS27A
9pick's disease30.8PSEN1, MAPT
10parkinson's disease30.7RPS27A, SOD1, ISG15, APOE, VCP, MAPT
11brain disease30.6PSEN1, SNCA, MAPT
12tauopathy30.6INA, MAPT, GRN, SNCA, STH, PSEN1
13lewy body dementia30.6RPS27A, APOE, SNCA, MAPT
14vascular dementia30.5APOE
15amyloidosis30.4RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
16apraxia30.4GRN, MAPT
17inclusion body myositis30.4MAPT, RPS27A
18memory impairment30.3APOE, PSEN1, SNCA, GRN, MAPT
19neuronal intranuclear inclusion disease30.3RPS27A
20frontotemporal lobar degeneration with ubiquitin-positive inclusions30.1GRN
21grn-related frontotemporal dementia10.7
22corticobasal degeneration10.7
23frontotemporal dementia, ubiquitin-positive10.6
24frontotemporal dementia with parkinsonism-1710.6
25amyotrophic lateral sclerosis with frontotemporal dementia10.6
26chmp2b-related frontotemporal dementia10.6
27frontotemporal dementia, chromosome 3-linked10.5
28bipolar disorder10.4
29frontotemporal lobar degeneration, tardbp-related10.4
30intracranial hypotension10.4
31n syndrome10.4
32inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.4
33inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.4
34amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
35pathological gambling10.3
36tardbp-related frontotemporal dementia10.3
37inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.3
38prosopagnosia10.3
39adult polyglucosan body disease10.3
40cerebellar degeneration10.3
41progressive non-fluent aphasia10.3
42alzheimer disease mitochondrial10.3
43adult syndrome10.2
44vascular disease10.2
45alzheimer disease risk factor10.2
46vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
47c9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
48ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
49cerebral atrophy10.2
50dementia, familial, nonspecific10.2

Graphical network of the top 20 diseases related to Frontotemporal Dementia:



Diseases related to frontotemporal dementia

Clinical Features for Frontotemporal Dementia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

600274

Clinical synopsis from OMIM:

600274

Drugs & Therapeutics for Frontotemporal Dementia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Frontotemporal Dementia

Drug clinical trials:

Search ClinicalTrials for Frontotemporal Dementia

Search NIH Clinical Center for Frontotemporal Dementia

Search CenterWatch for Frontotemporal Dementia

Genetic Tests for Frontotemporal Dementia

Sources:
22GTR
See all sources

Genetic tests related to Frontotemporal Dementia:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia22

Anatomical Context for Frontotemporal Dementia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Frontotemporal Dementia:

33
Brain, Cortex, Monocytes, T cells, B cells, Prefrontal cortex, Cingulate cortex, Temporal lobe, Hypothalamus

Animal Models for Frontotemporal Dementia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Frontotemporal Dementia

Sources:
51PubMed
See all sources

Articles related to Frontotemporal Dementia:

(show top 50)    (show all 820)
idTitleAuthorsYear
1
Interrater reliability of the new criteria for behavioral variant frontotemporal dementia. (23635967)
2013
2
A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function. (24086739)
2013
3
Could immunological mechanisms trigger neurodegeneration in frontotemporal dementia? (23575933)
2013
4
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. (23318515)
2013
5
Overlap between frontotemporal dementia and Alzheimer's disease: cerebrospinal fluid pattern and neuroimaging study. (23568100)
2013
6
Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. (22708871)
2013
7
Relatives' experiences of frontal-variant frontotemporal dementia. (23150527)
2013
8
Neural correlates of the mini-SEA (Social cognition and Emotional Assessment) in behavioral variant frontotemporal dementia. (24078043)
2013
9
Expression of mutant CHMP2B, an ESCRT-III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila. (24158394)
2013
10
Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation. (24095276)
2013
11
Structural MRI in frontotemporal dementia: comparisons between hippocampal volumetry, tensor-based morphometry and voxel-based morphometry. (23285078)
2012
12
Gray matter atrophy in behavioral variant frontotemporal dementia: a meta-analysis of voxel-based morphometry studies. (22722668)
2012
13
Behaviour and biomarkers in frontotemporal dementia: implications for general psychiatry. (22535297)
2012
14
Semantic dementia associated with corticobasal syndrome: a further variant of frontotemporal lobe degeneration? (22231872)
2012
15
The diagnostic challenge of frontotemporal dementia in psychiatric patients: a case report. (22055332)
2012
16
Considering the frontomedian cortex in revised criteria for behavioural variant frontotemporal dementia. (22362608)
2012
17
FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis. (22261247)
2012
18
Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). (21412715)
2011
19
Are you really angry? The effect of intensity on facial emotion recognition in frontotemporal dementia. (21957889)
2011
20
The APOE gene locus in frontotemporal dementia and primary progressive aphasia. (21555637)
2011
21
Frontotemporal dementia caregivers and researchers: partnering for brain donation. (22021861)
2011
22
Early signs of VCP-related frontotemporal dementia: a neuropsychological, FDG-PET and fMRI study. (20938780)
2011
23
Heterogeneous nuclear ribonucleoprotein E3 modestly activates splicing of tau exon 10 via its proximal downstream intron, a hotspot for frontotemporal dementia mutations. (19914360)
2010
24
Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia. (20667979)
2010
25
Behavioral variant of frontotemporal dementia mimicking Huntington's disease. (20170589)
2010
26
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. (17889967)
2009
27
The molecular basis of frontotemporal dementia. (19638255)
2009
28
Traumatic brain injury may increase the risk for frontotemporal dementia through reduced progranulin. (20145419)
2009
29
Rest-activity and behavioral disruption in a patient with frontotemporal dementia. (19736599)
2009
30
A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. (19208399)
2009
31
Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients. (19618231)
2009
32
Characterizing radiology reports in patients with frontotemporal dementia. (19786700)
2009
33
Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation. (19202337)
2009
34
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. (19433740)
2009
35
No evidence of association between frontotemporal dementia and major European mtDNA haplogroups. (18637035)
2008
36
Tracking progression in frontotemporal lobar degeneration: serial MRI in semantic dementia. (18955688)
2008
37
Brain spect perfusion of frontotemporal dementia associated with motor neuron disease. (17664410)
2007
38
The mini-mental state examination in behavioral variant frontotemporal dementia and primary progressive aphasia. (18166606)
2007
39
Frontotemporal dementia with tau pathology. (17596718)
2007
40
Association of the tau haplotype H2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia. (17898350)
2007
41
An autopsy case of frontotemporal dementia with severe dysarthria and motor neuron disease showing numerous basophilic inclusions. (17080724)
2006
42
Tau and alpha-synuclein inclusions in a case of familial frontotemporal dementia and progressive aphasia. (15804056)
2005
43
17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. (15023818)
2004
44
Clinical and molecular aspects of frontotemporal dementia. (16908993)
2004
45
Frontotemporal dementia presenting with pathological gambling. (14990769)
2004
46
Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. (12975285)
2003
47
Increased frequency of a new polymorphism in the cell division cycle 2 (cdc2) gene in patients with Alzheimer's disease and frontotemporal dementia. (12648761)
2003
48
Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease. (10985702)
2000
49
Brain-derived neurotrophic factor in patients with frontotemporal dementia. (10670781)
2000
50
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. (11134413)
2000

Genetic Variations for Frontotemporal Dementia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Frontotemporal Dementia:

63 (show all 12)
id Symbol AA change Variation SNP ID
1MAPTp.Gly589ValVAR_010345
2MAPTp.Asn596LysVAR_010346
3MAPTp.Pro618LeuVAR_010348
4MAPTp.Pro618SerVAR_010349
5MAPTp.Ser622AsnVAR_010350
6MAPTp.Val654MetVAR_010351
7MAPTp.Arg5HisVAR_019660rs63750959
8MAPTp.Leu583ValVAR_019662
9MAPTp.Asn613HisVAR_019663
10MAPTp.Glu659ValVAR_019666
11MAPTp.Lys634MetVAR_037440
12PSEN1p.Leu113ProVAR_016215

Expression for genes affiliated with Frontotemporal Dementia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Frontotemporal Dementia

Search GEO for disease gene expression data for Frontotemporal Dementia.

Pathways for genes affiliated with Frontotemporal Dementia

Sources:
60Tocris Bioscience, 52QIAGEN, 54Reactome, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology
See all sources

Compounds for genes affiliated with Frontotemporal Dementia

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 11DrugBank, 2BitterDB, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Frontotemporal Dementia according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1thioflavine s4510.9MAPT, SNCA, APOE, RPS27A
24-hydroxynonenal45 2411.9RPS27A, SOD1, APOE, PSEN1, SNCA, MAPT
3formate4510.9RPS27A, SOD1, APOE, SNCA, MAPT
4s-1824510.9PSEN1, PSEN2
5lactacystin4510.9RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
6valine4510.9RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
7mrk 5606010.9PSEN1, PSEN2
8sodium dodecylsulfate4510.9MAPT, SNCA, APOE, RPS27A
9glutamine4510.9RPS27A, APOE, PSEN1, CRYAB, SNCA, MAPT
10jlk 66010.9PSEN1, PSEN2
11begacestat6010.9PSEN1, PSEN2
12thioflavin4510.8MAPT, SNCA
13n acetylcysteine4510.8RPS27A, SOD1, APOE, SNCA, MAPT
14l-685,4586010.8PSEN1, PSEN2
15biotin45 11 2412.8PSEN2, PSEN1, APOE, RPS27A
16paraffin4510.8RPS27A, APOE, PSEN2, CRYAB, SNCA, MAPT
17cysteine4510.8RPS27A, SOD1, ISG15, APOE, PSEN1, SNCA
18dapt6010.8PSEN2, PSEN1
19glutamate4510.8RPS27A, SOD1, APOE, PSEN1, PSEN2, SNCA
20h2o24510.8RPS27A, SOD1, APOE, PSEN1, PSEN2, CRYAB
21spec-t4510.8MAPT, PSEN1, APOE
22lysine4510.8RPS27A, ISG15, PSEN1, PSEN2, CRYAB, SNCA
23aspartate4510.8RPS27A, APOE, PSEN1, PSEN2, PIN1, CRYAB
24alanine4510.8RPS27A, SOD1, APOE, PSEN1, PIN1, SNCA
25cycloheximide4510.8RPS27A, ISG15, APOE, PSEN1, PSEN2, MAPT
26choline45 11 2412.8PSEN1, PSEN2, SNCA, MAPT
27rotenone4510.8RPS27A, SOD1, SNCA
28tmao4510.8MAPT, SNCA
29actinomycin d4510.8RPS27A, APOE, PSEN2, CRYAB, MAPT
306-hydroxydopamine4510.8RPS27A, SOD1, SNCA
31juglone4510.8MAPT, PIN1
32hydrogen45 2411.8SNCA, PIN1, PSEN1, ISG15, RPS27A
33serine4510.8RPS27A, APOE, PSEN1, PSEN2, PIN1, SNCA
34arginine4510.8RPS27A, SOD1, APOE, PSEN1, SNCA, MAPT
35vitamin b124510.8MAPT, PSEN1, APOE
36superoxide45 2411.7SOD1, PSEN1, CRYAB, TARDBP, VCP
37guanidine hydrochloride4510.7RPS27A, APOE, SNCA
38peroxynitrite4510.7SNCA, PSEN1, SOD1
393-nitrotyrosine4510.7SOD1, SNCA
40thioflavin t4510.7SNCA, APOE
41amide4510.7PIN1, ISG15, RPS27A
42silver4510.7RPS27A, SNCA, MAPT
43chloroquine45 2 50 29 1114.6MAPT, APOE, RPS27A
44retinoic acid45 2411.6RPS27A, ISG15, PSEN1, PSEN2, MAPT, INA
45tamoxifen45 50 29 1113.5RPS27A, APOE, PSEN2
46methionine4510.5MAPT, SNCA, CRYAB, PSEN1
47tacrine45 1111.5APOE, MAPT
48nmda45 2911.5MAPT, PSEN1, APOE, RPS27A
49levodopa45 1111.3SNCA, SOD1, RPS27A
50glucose4510.1PSEN1, PSEN2, CRYAB, SNCA, GRN, MAPT

GO Terms for genes affiliated with Frontotemporal Dementia

Sources:
16Gene Ontology
See all sources

Cellular components related to Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:03042610.6MAPT, SNCA, PSEN2, PSEN1
2axonGO:03042410.6PSEN1, PSEN2, SNCA, MAPT
3cytoplasmGO:00573710.5PIN1, APOE, ISG15, UBQLN2, SOD1, CRYAB
4ciliary rootletGO:03525310.5PSEN2, PSEN1
5cell cortexGO:00593810.4SNCA, PSEN2, PSEN1
6cytosolGO:00582910.4RPS27A, SOD1, ISG15, PSEN2, CRYAB, SNCA
7neuronal cell bodyGO:04302510.3SOD1, APOE, PSEN1, PSEN2
8Z discGO:03001810.1CRYAB, PSEN2, PSEN1

Biological processes related to Frontotemporal Dementia according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1Notch receptor processingGO:00722010.8RPS27A, PSEN1, PSEN2
2positive regulation of coagulationGO:05082010.8PSEN2, PSEN1
3myeloid leukocyte differentiationGO:00257310.8PSEN2, PSEN1
4negative regulation of neuron apoptotic processGO:04352410.8SNCA, PSEN1, APOE, SOD1
5cell deathGO:00821910.8FUS, TARDBP, GRN, CHMP2B, C9orf72, APOE
6negative regulation of cholesterol biosynthetic processGO:04554110.8APOE, SOD1
7negative regulation of type I interferon productionGO:03248010.8RPS27A, ISG15, PIN1
8thymus developmentGO:04853810.8PSEN2, PSEN1, SOD1
9positive regulation of catalytic activityGO:04308510.8SOD1, PSEN1, PSEN2
10negative regulation of intracellular transportGO:03238710.8MAPT, CRYAB
11T cell activation involved in immune responseGO:00228610.8PSEN2, PSEN1
12endoplasmic reticulum calcium ion homeostasisGO:03246910.7PSEN1, PSEN2
13amyloid precursor protein catabolic processGO:04298710.7PSEN2, PSEN1
14neurofilament cytoskeleton organizationGO:06005210.7INA, SOD1
15positive regulation of receptor recyclingGO:00192110.7SNCA, PSEN1
16beta-amyloid metabolic processGO:05043510.7PSEN2, PSEN1
17negative regulation of apoptotic processGO:04306610.7RPS27A, PSEN1, PSEN2, CRYAB, SNCA
18positive regulation of apoptotic processGO:04306510.6RPS27A, SOD1, PSEN1, PSEN2
19anagenGO:04264010.6PSEN2, PSEN1
20T cell receptor signaling pathwayGO:05085210.6PSEN2, PSEN1, RPS27A
21agingGO:00756810.5APOE, CRYAB, SNCA
22brain morphogenesisGO:04885410.5PSEN2, PSEN1
23hematopoietic progenitor cell differentiationGO:00224410.5PSEN2, PSEN1
24dorsal/ventral neural tube patterningGO:02190410.4PSEN2, PSEN1
25cell fate specificationGO:00170810.2PSEN2, PSEN1

Molecular functions related to Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tau protein bindingGO:04815610.5SNCA, APOE
2identical protein bindingGO:04280210.4FUS, TARDBP, SNCA, CRYAB, APOE, SOD1
3protein bindingGO:00551510.2PSEN2, PSEN1, APOE, ISG15, UBQLN2, SOD1
4lipoprotein particle bindingGO:07181310.2MAPT, APOE

Products for genes affiliated with Frontotemporal Dementia

  • Antibodies
  • Proteins
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Sources for Frontotemporal Dementia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet