MCID: BHV002
MIFTS: 41

Behavioral Variant of Frontotemporal Dementia

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Behavioral Variant of Frontotemporal Dementia

MalaCards integrated aliases for Behavioral Variant of Frontotemporal Dementia:

Name: Behavioral Variant of Frontotemporal Dementia 60
Bv-Ftd 60

Characteristics:

Orphanet epidemiological data:

60
behavioral variant of frontotemporal dementia
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Behavioral Variant of Frontotemporal Dementia

MalaCards based summary : Behavioral Variant of Frontotemporal Dementia, also known as bv-ftd, is related to alzheimer disease and lateral sclerosis. An important gene associated with Behavioral Variant of Frontotemporal Dementia is SQSTM1 (Sequestosome 1), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. Affiliated tissues include brain, skin and testes, and related phenotypes are dysphasia and stereotypy

Related Diseases for Behavioral Variant of Frontotemporal Dementia

Diseases related to Behavioral Variant of Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 30.4 GRN MAPT PSEN1 SQSTM1
2 lateral sclerosis 30.1 C9orf72 SQSTM1 VCP
3 aphasia 29.1 C9orf72 CHMP2B GRN MAPT PSEN1
4 frontotemporal dementia 28.5 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1
5 dementia 28.5 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1
6 progressive non-fluent aphasia 27.6 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
7 amyotrophic lateral sclerosis 1 27.3 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1
8 cognitive function 1, social 10.3
9 depression 10.2
10 phonagnosia 10.2 GRN PSEN1
11 patulous eustachian tube 10.2
12 associative agnosia 10.2 GRN PSEN1
13 writing disorder 10.2 GRN PSEN1
14 prosopagnosia 10.2 GRN PSEN1
15 gait apraxia 10.2 GRN PSEN1
16 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.2 GRN MAPT
17 ideomotor apraxia 10.1 GRN MAPT
18 visual agnosia 10.1 GRN PSEN1
19 kohlschutter-tonz syndrome 10.1 MAPT PSEN1
20 perry syndrome 10.1 C9orf72 GRN
21 kluver-bucy syndrome 10.1 MAPT PSEN1
22 amyotrophic lateral sclerosis 21 10.1 C9orf72 VCP
23 alzheimer disease 2 10.1 MAPT PSEN1
24 mammary paget's disease 10.1 SQSTM1 VCP
25 intermittent claudication 10.1
26 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 10.1
27 early-onset, autosomal dominant alzheimer disease 10.1 PSEN1 TREM2
28 multiple system atrophy 1 10.0 MAPT SQSTM1
29 supranuclear palsy, progressive, 1 10.0 GRN MAPT
30 cerebral amyloid angiopathy, cst3-related 10.0 MAPT PSEN1
31 nervous system disease 10.0 C9orf72 MAPT PSEN1
32 echolalia 10.0 GRN MAPT PSEN1
33 agraphia 10.0 GRN MAPT PSEN1
34 paget's disease of bone 9.9 SQSTM1 VCP
35 dementia, lewy body 9.9 GRN MAPT PSEN1
36 mutism 9.9 CHMP2B GRN
37 vascular dementia 9.9 MAPT PSEN1
38 inclusion body myositis 9.9 MAPT SQSTM1 VCP
39 specific developmental disorder 9.8 GRN PSEN1
40 apraxia 9.8 C9orf72 GRN MAPT PSEN1
41 speech and communication disorders 9.8 C9orf72 GRN MAPT PSEN1
42 disease of mental health 9.8 C9orf72 GRN MAPT PSEN1
43 pick disease of brain 9.8 GRN MAPT PSEN1 SQSTM1
44 motor neuron disease 9.5 C9orf72 GRN MAPT SQSTM1 VCP
45 nominal aphasia 9.5 CHMP2B GRN MAPT PSEN1
46 semantic dementia 8.6 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
47 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 8.5 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1

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



Diseases related to Behavioral Variant of Frontotemporal Dementia

Symptoms & Phenotypes for Behavioral Variant of Frontotemporal Dementia

Human phenotypes related to Behavioral Variant of Frontotemporal Dementia:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
2 stereotypy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000733
3 irritability 60 33 hallmark (90%) Very frequent (99-80%) HP:0000737
4 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
5 memory impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002354
6 aggressive behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0000718
7 dyslexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010522
8 dysgraphia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010526
9 frontotemporal cerebral atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006892
10 restlessness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000711
11 disinhibition 60 33 hallmark (90%) Very frequent (99-80%) HP:0000734
12 personality changes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000751
13 frontotemporal dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002145
14 inappropriate behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0000719
15 echolalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010529
16 loss of speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0002371
17 dyscalculia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002442
18 poor speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0002465
19 perseveration 60 33 hallmark (90%) Very frequent (99-80%) HP:0030223
20 hyperorality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000710
21 restrictive behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0000723
22 lack of insight 60 33 hallmark (90%) Very frequent (99-80%) HP:0000757
23 emotional blunting 60 33 hallmark (90%) Very frequent (99-80%) HP:0030213
24 abnormal brain fdg positron emission tomography 60 33 frequent (33%) Frequent (79-30%) HP:0012658
25 abnormality of the cerebral white matter 60 33 frequent (33%) Frequent (79-30%) HP:0002500
26 eeg with continuous slow activity 60 33 frequent (33%) Frequent (79-30%) HP:0011204
27 collectionism 60 33 frequent (33%) Frequent (79-30%) HP:0030212
28 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
29 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
30 generalized tonic-clonic seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002069
31 psychosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000709
32 fasciculations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002380
33 abnormality of extrapyramidal motor function 60 33 occasional (7.5%) Occasional (29-5%) HP:0002071
34 astrocytosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002446
35 apathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000741
36 mutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002300
37 upper motor neuron dysfunction 60 33 occasional (7.5%) Occasional (29-5%) HP:0002493
38 abulia 60 33 occasional (7.5%) Occasional (29-5%) HP:0012671
39 behavioral abnormality 60 Very frequent (99-80%)
40 mental deterioration 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Behavioral Variant of Frontotemporal Dementia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.87 C9orf72 GRN MAPT PSEN1 SQSTM1 TREM2
2 growth/size/body region MP:0005378 9.8 C9orf72 GRN MAPT PSEN1 SQSTM1 TMEM106B
3 hematopoietic system MP:0005397 9.7 C9orf72 GRN MAPT PSEN1 SQSTM1 TREM2
4 immune system MP:0005387 9.5 C9orf72 GRN MAPT PSEN1 SQSTM1 TREM2
5 nervous system MP:0003631 9.23 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1

Drugs & Therapeutics for Behavioral Variant of Frontotemporal Dementia

Search Clinical Trials , NIH Clinical Center for Behavioral Variant of Frontotemporal Dementia

Genetic Tests for Behavioral Variant of Frontotemporal Dementia

Anatomical Context for Behavioral Variant of Frontotemporal Dementia

MalaCards organs/tissues related to Behavioral Variant of Frontotemporal Dementia:

42
Brain, Skin, Testes

Publications for Behavioral Variant of Frontotemporal Dementia

Articles related to Behavioral Variant of Frontotemporal Dementia:

(show all 39)
# Title Authors Year
1
Bifrontal Hypermetabolism on Brain FDG-PET in a Case of C9orf72-Related Behavioral Variant of Frontotemporal Dementia. ( 30404533 )
2019
2
Combined Socio-Behavioral Evaluation Improves the Differential Diagnosis Between the Behavioral Variant of Frontotemporal Dementia and Alzheimer's Disease: In Search of Neuropsychological Markers. ( 29254091 )
2018
3
Moral judgment in patients with behavioral variant of frontotemporal dementia and amyotrophic lateral sclerosis: no impairment of the moral position, but rather its execution. ( 30513214 )
2018
4
18F-THK5351 PET Imaging in the Behavioral Variant of Frontotemporal Dementia. ( 30906406 )
2018
5
An autopsy case of dementia with Lewy bodies clinically diagnosed to have a behavioral variant of frontotemporal dementia. ( 27737532 )
2017
6
Mistakes, Too Few to Mention? Impaired Self-conscious Emotional Processing of Errors in the Behavioral Variant of Frontotemporal Dementia. ( 29089874 )
2017
7
Uncovering the Neural Bases of Cognitive and Affective Empathy Deficits inA Alzheimer's Disease and the Behavioral-Variant of Frontotemporal Dementia. ( 27258418 )
2016
8
Different functional connectivity and network topology in behavioral variant of frontotemporal dementia and Alzheimer's disease: an EEG study. ( 27143432 )
2016
9
The behavioral variant of frontotemporal dementia: An analysis of the literature and a case report. ( 27143117 )
2016
10
Behavioral variant of frontotemporal dementia: Fundamental clinical issues associated with prediction of pathological bases. ( 26969837 )
2016
11
Differential Impairment of Cognitive and Affective Mentalizing Abilities in Neurodegenerative Dementias: Evidence from Behavioral Variant of Frontotemporal Dementia, Alzheimer's Disease, and Mild Cognitive Impairment. ( 26836153 )
2016
12
DAPHNE: A New Tool for the Assessment of the Behavioral Variant of Frontotemporal Dementia. ( 26955383 )
2015
13
Impaired recognition of body expressions in the behavioral variant of frontotemporal dementia. ( 26162615 )
2015
14
The Peripheral Sympathetic Neuron is Intact in Alzheimer's Disease and Behavioral Variant of Frontotemporal Dementia. ( 25280792 )
2015
15
Evaluating Behavior in Mouse Models of the Behavioral Variant of Frontotemporal Dementia: Which Test for Which Symptom? ( 26517704 )
2015
16
Right Limbic FDG-PET Hypometabolism Correlates with Emotion Recognition and Attribution in Probable Behavioral Variant of Frontotemporal Dementia Patients. ( 26513651 )
2015
17
Drawing perseveration in the behavioral variant of frontotemporal dementia. ( 25548236 )
2015
18
Affective mentalizing and brain activity at rest in the behavioral variant of frontotemporal dementia. ( 26594631 )
2015
19
Theory of mind impairment in patients with behavioural variant fronto-temporal dementia (bv-FTD) increases caregiver burden. ( 26025914 )
2015
20
The phoenix from the ashes: cardiovascular autonomic dysfunction in behavioral variant of frontotemporal dementia. ( 25024313 )
2014
21
Metacognition in the behavioral variant of frontotemporal dementia and Alzheimer's disease. ( 24548124 )
2014
22
Neural correlates of empathic impairment in the behavioral variant of frontotemporal dementia. ( 24589435 )
2014
23
The added value of 18-fluorodeoxyglucose-positron emission tomography in the diagnosis of the behavioral variant of frontotemporal dementia. ( 24576796 )
2014
24
GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia. ( 23986673 )
2013
25
Comparison of 2 diagnostic criteria for the behavioral variant of frontotemporal dementia. ( 23695224 )
2013
26
The behavioral variant of frontotemporal dementia: linking neuropathology to social cognition. ( 23377232 )
2013
27
Structural neuroimaging of social cognition in progressive non-fluent aphasia and behavioral variant of frontotemporal dementia. ( 23966929 )
2013
28
Functional network connectivity in the behavioral variant of frontotemporal dementia. ( 23164495 )
2013
29
The INECO Frontal Screening tool differentiates behavioral variant - frontotemporal dementia (bv-FTD) from major depression. ( 29213817 )
2013
30
Different apathy profile in behavioral variant of frontotemporal dementia and Alzheimer's disease: a preliminary investigation. ( 22719755 )
2012
31
Frontal and posterior cingulate metabolic impairment in the behavioral variant of frontotemporal dementia with impaired autonoetic consciousness. ( 21520350 )
2012
32
Contextual social cognition and the behavioral variant of frontotemporal dementia. ( 22529204 )
2012
33
Prospective evaluation of behavioral scales in the behavioral variant of frontotemporal dementia. ( 22922703 )
2012
34
Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. ( 22766732 )
2012
35
The experience of caregiving: differences between behavioral variant of frontotemporal dementia and Alzheimer disease. ( 21941168 )
2012
36
Cognitive decline in the behavioral variant of frontotemporal dementia. ( 20836915 )
2011
37
Behavioral variant of frontotemporal dementia mimicking Huntington's disease. ( 20170589 )
2010
38
Zarit burden inventory and activities of daily living in the behavioral variant of frontotemporal dementia. ( 18285675 )
2008
39
Diagnostic criteria for the behavioral variant of frontotemporal dementia (bvFTD): current limitations and future directions. ( 18090417 )
2007

Variations for Behavioral Variant of Frontotemporal Dementia

Expression for Behavioral Variant of Frontotemporal Dementia

Search GEO for disease gene expression data for Behavioral Variant of Frontotemporal Dementia.

Pathways for Behavioral Variant of Frontotemporal Dementia

Pathways related to Behavioral Variant of Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.97 MAPT PSEN1 TREM2
2 11.62 CHMP2B MAPT VCP
3
Show member pathways
11.14 PSEN1 SQSTM1
4 10.9 PSEN1 SQSTM1
5 10.28 MAPT PSEN1

GO Terms for Behavioral Variant of Frontotemporal Dementia

Cellular components related to Behavioral Variant of Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.61 C9orf72 MAPT PSEN1
2 growth cone GO:0030426 9.43 C9orf72 MAPT PSEN1
3 autophagosome GO:0005776 9.4 C9orf72 SQSTM1
4 cytoplasmic stress granule GO:0010494 9.37 C9orf72 VCP
5 endosome GO:0005768 9.35 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
6 aggresome GO:0016235 9.32 PSEN1 SQSTM1
7 main axon GO:0044304 9.16 C9orf72 MAPT
8 lysosome GO:0005764 9.02 C9orf72 CHMP2B GRN SQSTM1 TMEM106B

Biological processes related to Behavioral Variant of Frontotemporal Dementia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.49 PSEN1 VCP
2 cellular response to heat GO:0034605 9.48 MAPT VCP
3 regulation of autophagy GO:0010506 9.46 C9orf72 MAPT
4 positive regulation of protein localization to plasma membrane GO:1903078 9.43 SQSTM1 TREM2
5 regulation of synaptic plasticity GO:0048167 9.4 MAPT PSEN1
6 synapse organization GO:0050808 9.37 MAPT PSEN1
7 endosome organization GO:0007032 9.32 CHMP2B SQSTM1
8 stress granule assembly GO:0034063 9.26 C9orf72 MAPT
9 astrocyte activation GO:0048143 9.16 MAPT PSEN1
10 macroautophagy GO:0016236 9.13 CHMP2B SQSTM1 VCP
11 autophagy GO:0006914 9.02 C9orf72 CHMP2B PSEN1 SQSTM1 VCP

Sources for Behavioral Variant of Frontotemporal Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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