BVFTD
MCID: BHV002
MIFTS: 49

Behavioral Variant of Frontotemporal Dementia (BVFTD)

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 53 59
Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions 53
Lobar Atrophy of the Brain 53
Pick Disease of the Brain 53
Pick's Disease 53
Bv-Ftd 59
Bvftd 53

Characteristics:

Orphanet epidemiological data:

59
behavioral variant of frontotemporal dementia
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G31.0
Orphanet 59 ORPHA275864

Summaries for Behavioral Variant of Frontotemporal Dementia

NIH Rare Diseases : 53 Pick's disease is a neurological condition characterized by a slowly progressive deterioration of behavior, personality, or language. People with Pick's disease have abnormal substances (called Pick bodies) inside nerve cells in the damaged areas of the brain. Pick bodies contain an abnormal form of a protein called tau. This protein is found in all nerve cells, but people with Pick's disease have an abnormal amount or type of this protein. Symptoms often present sometime in the 50s, though it can occur as early as age 20 or as late as age 80. The course of the disease varies from person to person. The underlying cause of Pick's disease is unknown. In some cases, the disease runs in families. While there is no treatment to slow the progression of the disease, medications can be used to treat individual symptoms.

MalaCards based summary : Behavioral Variant of Frontotemporal Dementia, also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions, is related to mutism and prosopagnosia. An important gene associated with Behavioral Variant of Frontotemporal Dementia is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. The drugs Memantine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and cortex, 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 top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 mutism 30.7 GRN CHMP2B
2 prosopagnosia 30.5 PSEN1 GRN
3 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.3 MAPT GRN
4 supranuclear palsy, progressive, 1 30.3 MAPT GRN
5 lateral sclerosis 30.3 VCP SQSTM1 C9orf72
6 kohlschutter-tonz syndrome 30.1 PSEN1 MAPT
7 kluver-bucy syndrome 30.1 PSEN1 MAPT
8 apraxia 29.9 PSEN1 MAPT GRN C9orf72
9 multiple system atrophy 1 29.8 SQSTM1 MAPT
10 alzheimer disease 29.8 SQSTM1 PSEN1 MAPT GRN
11 agraphia 29.6 PSEN1 MAPT GRN
12 dementia, lewy body 29.6 PSEN1 MAPT GRN
13 vascular dementia 29.6 PSEN1 MAPT
14 pick disease of brain 29.4 SQSTM1 PSEN1 MAPT GRN
15 nominal aphasia 29.3 PSEN1 MAPT GRN CHMP2B
16 motor neuron disease 29.0 VCP SQSTM1 MAPT GRN C9orf72
17 aphasia 28.9 PSEN1 MAPT GRN CHMP2B C9orf72
18 semantic dementia 27.3 TREM2 TMEM106B PSEN1 MAPT GRN CHMP2B
19 frontotemporal dementia 26.8 VCP TREM2 TMEM106B SQSTM1 PSEN1 MAPT
20 dementia 26.7 VCP TREM2 TMEM106B SQSTM1 PSEN1 MAPT
21 progressive non-fluent aphasia 26.1 VCP TREM2 TMEM106B PSEN1 MAPT GRN
22 amyotrophic lateral sclerosis 1 25.8 VCP TREM2 TMEM106B SQSTM1 PSEN1 MAPT
23 frontotemporal dementia with parkinsonism-17 11.3
24 phonagnosia 10.3 PSEN1 GRN
25 associative agnosia 10.3 PSEN1 GRN
26 writing disorder 10.3 PSEN1 GRN
27 gait apraxia 10.3 PSEN1 GRN
28 endogenous depression 10.3
29 visual agnosia 10.2 PSEN1 GRN
30 kleptomania 10.2
31 encephalopathy 10.2
32 amyotrophic lateral sclerosis 21 10.2 VCP C9orf72
33 ideomotor apraxia 10.1 MAPT GRN
34 perry syndrome 10.1 GRN C9orf72
35 down syndrome 10.1
36 niemann-pick disease, type a 10.1
37 chorea, childhood-onset, with psychomotor retardation 10.1
38 constrictive pericarditis 10.1
39 choreatic disease 10.1
40 pericarditis 10.1
41 alzheimer disease 2 10.1 PSEN1 MAPT
42 mammary paget's disease 10.1 VCP SQSTM1
43 major depressive disorder 10.1
44 mental depression 10.1
45 psychotic disorder 10.1
46 huntington disease 10.1
47 resting heart rate, variation in 10.1
48 major affective disorder 8 10.1
49 major affective disorder 9 10.1
50 exanthem 10.1

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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
2 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
3 irritability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000737
4 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
5 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
6 aggressive behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000718
7 dyslexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010522
8 dysgraphia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010526
9 frontotemporal cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006892
10 restlessness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000711
11 disinhibition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000734
12 personality changes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000751
13 frontotemporal dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002145
14 loss of speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002371
15 poor speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002465
16 inappropriate behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000719
17 echolalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010529
18 dyscalculia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002442
19 perseveration 59 32 hallmark (90%) Very frequent (99-80%) HP:0030223
20 hyperorality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000710
21 restrictive behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000723
22 lack of insight 59 32 hallmark (90%) Very frequent (99-80%) HP:0000757
23 emotional blunting 59 32 hallmark (90%) Very frequent (99-80%) HP:0030213
24 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
25 abnormality of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002500
26 eeg with continuous slow activity 59 32 frequent (33%) Frequent (79-30%) HP:0011204
27 collectionism 59 32 frequent (33%) Frequent (79-30%) HP:0030212
28 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
29 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
30 generalized tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002069
31 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
32 fasciculations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002380
33 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
34 astrocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002446
35 upper motor neuron dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002493
36 apathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000741
37 mutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002300
38 abulia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012671
39 behavioral abnormality 59 Very frequent (99-80%)
40 mental deterioration 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Behavioral Variant of Frontotemporal Dementia:

46
# 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

Drugs for Behavioral Variant of Frontotemporal Dementia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Miglustat Approved Phase 4 72599-27-0 51634
4
Corticosterone Experimental Phase 4 50-22-6 5753
5
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
6 Excitatory Amino Acid Antagonists Phase 4
7 Excitatory Amino Acids Phase 4
8 Antidepressive Agents Phase 4
9 Psychotropic Drugs Phase 4
10 Serotonin Uptake Inhibitors Phase 4
11 Antidepressive Agents, Second-Generation Phase 4
12 Neurotransmitter Uptake Inhibitors Phase 4
13 Serotonin Agents Phase 4
14 Fluorodeoxyglucose F18 Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Glycoside Hydrolase Inhibitors Phase 4
17 Cardiac Glycosides Phase 4
18 Anti-HIV Agents Phase 4
19 Hypoglycemic Agents Phase 4
20 Anti-Retroviral Agents Phase 4
21
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
22
tannic acid Approved Phase 3 1401-55-4
23
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
24
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
25
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
26
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
27
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
28
Methylene blue Approved, Investigational Phase 3 61-73-4
29
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
30 Prednisolone acetate Phase 2, Phase 3
31 Methylprednisolone Acetate Phase 2, Phase 3
32 Antilymphocyte Serum Phase 2, Phase 3
33
Galantamine Approved Phase 2 357-70-0 9651
34
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
35
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
36
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
37
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
38
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
39
Busulfan Approved, Investigational Phase 2 55-98-1 2478
40
alemtuzumab Approved, Investigational Phase 2 216503-57-0
41
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
42
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
43
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
44 Cholinesterase Inhibitors Phase 2
45 Cholinergic Agents Phase 2
46 Nootropic Agents Phase 2
47 Autonomic Agents Phase 2
48 Histone Deacetylase Inhibitors Phase 1, Phase 2
49 N-monoacetylcystine Phase 1, Phase 2
50 Catechol O-Methyltransferase Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 139)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
4 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
5 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Not yet recruiting NCT03910621 Phase 4 Miglustat
6 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
7 A Double-Blind, Placebo-Controlled, Randomized, Parallel Group, 12-Month Safety and Efficacy Trial of TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
8 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
9 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
10 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
11 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
12 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
13 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
14 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
15 An Open-Label, Extension Study of the Effects of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
16 A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalating, Phase 2a Safety, Tolerability, and Pharmacodynamic Study of Two Doses of an Histone Deacetylase Inhibitor (FRM-0334) in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
17 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
18 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
19 A Study Evaluating the Imaging Characteristics of Florbetapir 18F (18F-AV-45) in Patients With Frontotemporal Dementia Compared to Patients With Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
20 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
21 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
22 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
23 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
24 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
25 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
26 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
27 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
28 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
29 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Recruiting NCT03759639 Phase 2 IB1001
30 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
31 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
32 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
33 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
34 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
35 A Phase 2, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AL001 in Heterozygous Carriers of Granulin or C9ORF72 Mutations Causative of Frontotemporal Dementia Not yet recruiting NCT03987295 Phase 2 AL001
36 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
37 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT04046991 Phase 2
38 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
39 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
40 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for the Management, Control and Treatment of Frontotemporal Dementia (Pick's Disease) Unknown status NCT00674960 Phase 1
41 Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Clinically Diagnosed Tauopathies in Comparison to Healthy Subjects Completed NCT02103894 Phase 1 [18F]T807 ([18F]MNI-777)
42 A Phase I Dose Finding Study of Intranasal Oxytocin in Frontotemporal Dementia, Protocol # FTDOXY10EF Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
43 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
44 18F-AV-1451 PET Imaging in Subjects With Frontotemporal Dementia Completed NCT03040713 Phase 1 18F-AV-1451;18F-AV-45
45 A 12 Week Randomized, Double Blind, Placebo-Controlled Pilot Study of Davunetide (NAP, AL-108) in Predicted Tauopathies Completed NCT01056965 Phase 1 davunetide (AL-108, NAP);Placebo nasal spray
46 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918
47 Amyloid-related Imaging Abnormalities (Microbleeds) in Atypical AD Completed NCT01723553 Phase 1 C-11 PiB
48 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
49 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
50 A First in Human Phase 1 Study in Healthy Volunteers and in Participants With Frontotemporal Dementia (FTD) With Granulin Mutation Recruiting NCT03636204 Phase 1

Search 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:

41
Brain, Liver, Cortex, Testes, Bone, Temporal Lobe, Bone Marrow

Publications for Behavioral Variant of Frontotemporal Dementia

Articles related to Behavioral Variant of Frontotemporal Dementia:

(show top 50) (show all 1194)
# Title Authors PMID Year
1
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 71
25114083 2015
2
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 71
24899140 2014
3
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. 71
23942205 2014
4
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 71
24042580 2013
5
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 71
22084127 2011
6
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). 71
20352044 2010
7
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. 71
17956895 2008
8
Frontotemporal Dementia, Chromosome 3-Linked 71
20301378 2007
9
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 71
16807408 2006
10
A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. 71
16813535 2006
11
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. 71
16431024 2006
12
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 71
16041373 2005
13
Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. 71
15765181 2005
14
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 71
11992264 2002
15
Heritability in frontotemporal tauopathies. 38
30723775 2019
16
Amygdala subnuclei are differentially affected in the different genetic and pathological forms of frontotemporal dementia. 38
30788410 2019
17
Discovery and preclinical characterization of [18F]PI-2620, a next-generation tau PET tracer for the assessment of tau pathology in Alzheimer's disease and other tauopathies. 38
31264169 2019
18
Neuropathologic basis of frontotemporal dementia in progressive supranuclear palsy. 38
31433871 2019
19
Immunoreactivity of myelin-associated oligodendrocytic basic protein in Lewy bodies. 38
31183926 2019
20
Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders. 38
31214855 2019
21
Measuring awareness in people with dementia: protocol for a scoping review. 38
31272501 2019
22
Combining P301L and S320F tau variants produces a novel accelerated model of tauopathy. 38
31261380 2019
23
Elucidating Tau function and dysfunction in the era of cryo-EM. 38
31088912 2019
24
Incidence of frontotemporal lobar degeneration in Italy: The Salento-Brescia Registry study. 38
30979859 2019
25
Prognostic importance of apathy in syndromes associated with frontotemporal lobar degeneration. 38
30842292 2019
26
Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review. 38
30935398 2019
27
Detection of Alzheimer's disease (AD) specific tau pathology with conformation-selective anti-tau monoclonal antibody in co-morbid frontotemporal lobar degeneration-tau (FTLD-tau). 38
30832741 2019
28
Distinct Conformers of Assembled Tau in Alzheimer's and Pick's Diseases. 38
30886056 2019
29
The elusive tau molecular structures: can we translate the recent breakthroughs into new targets for intervention? 38
30823892 2019
30
Heterogeneous brain FDG-PET metabolic patterns in patients with C9orf72 mutation. 38
30554355 2019
31
Autoradiography validation of novel tau PET tracer [F-18]-MK-6240 on human postmortem brain tissue. 38
30857558 2019
32
A clinical TRIAD for early suspicion of autoimmune encephalitis as a possibility in patients presenting with progressive cognitive decline. 38
30836326 2019
33
Moral judgment in patients with behavioral variant of frontotemporal dementia and amyotrophic lateral sclerosis: no impairment of the moral position, but rather its execution. 38
30513214 2019
34
Heparin-induced tau filaments are polymorphic and differ from those in Alzheimer's and Pick's diseases. 38
30720432 2019
35
Astrocytic ceramide as possible indicator of neuroinflammation. 38
30803453 2019
36
Tau Inclusions in Alzheimer's, Chronic Traumatic Encephalopathy and Pick's Disease. A Speculation on How Differences in Backbone Polarization Underlie Divergent Pathways of Tau Aggregation. 38
31156372 2019
37
Involvement of Oligodendrocytes in Tau Seeding and Spreading in Tauopathies. 38
31191295 2019
38
Moral Emotions in Frontotemporal Dementia. 38
31127763 2019
39
Bifrontal Hypermetabolism on Brain FDG-PET in a Case of C9orf72-Related Behavioral Variant of Frontotemporal Dementia. 38
30404533 2019
40
Individual Prediction of Behavioral Variant Frontotemporal Dementia Development Using Multivariate Pattern Analysis of Magnetic Resonance Imaging Data. 38
30909224 2019
41
Prodromal and Early bvFTD: Evaluating Clinical Features and Current Biomarkers. 38
31293376 2019
42
Early pathological gambling in co-occurrence with semantic variant primary progressive aphasia: a case report. 38
31114177 2019
43
Resting parasympathetic dysfunction predicts prosocial helping deficits in behavioral variant frontotemporal dementia. 38
30317048 2018
44
18F-THK5351 PET Imaging in the Behavioral Variant of Frontotemporal Dementia. 38
30906406 2018
45
The Accuracy of INECO Frontal Screening in the Diagnosis of Executive Dysfunction in Frontotemporal Dementia and Alzheimer Disease. 38
29734264 2018
46
Structures of filaments from Pick's disease reveal a novel tau protein fold. 38
30158706 2018
47
Perfusion alterations converge with patterns of pathological spread in transactive response DNA-binding protein 43 proteinopathies. 38
29751289 2018
48
Acute tau knockdown in the hippocampus of adult mice causes learning and memory deficits. 38
29749079 2018
49
18F-FIBT may expand PET for β-amyloid imaging in neurodegenerative diseases. 38
30120417 2018
50
Clinical features of the behavioural variant of frontotemporal dementia that are useful for predicting underlying pathological subtypes of frontotemporal lobar degeneration. 38
30133939 2018

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 TREM2 PSEN1 MAPT
2 11.62 VCP MAPT CHMP2B
3
Show member pathways
11.14 SQSTM1 PSEN1
4 10.9 SQSTM1 PSEN1
5 10.28 PSEN1 MAPT

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

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 VCP PSEN1
2 regulation of autophagy GO:0010506 9.48 MAPT C9orf72
3 cellular response to heat GO:0034605 9.46 VCP MAPT
4 positive regulation of protein localization to plasma membrane GO:1903078 9.43 TREM2 SQSTM1
5 regulation of synaptic plasticity GO:0048167 9.4 PSEN1 MAPT
6 synapse organization GO:0050808 9.37 PSEN1 MAPT
7 endosome organization GO:0007032 9.32 SQSTM1 CHMP2B
8 stress granule assembly GO:0034063 9.26 MAPT C9orf72
9 astrocyte activation GO:0048143 9.16 PSEN1 MAPT
10 macroautophagy GO:0016236 9.13 VCP SQSTM1 CHMP2B
11 autophagy GO:0006914 9.02 VCP SQSTM1 PSEN1 CHMP2B C9orf72

Sources for Behavioral Variant of Frontotemporal Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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