FTD
MCID: DMN033
MIFTS: 62

Dementia, Frontotemporal (FTD) malady

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Dementia, Frontotemporal

Aliases & Descriptions for Dementia, Frontotemporal:

Name: Dementia, Frontotemporal 54 24 13
Frontotemporal Dementia 12 50 51 66 29 52 42 14 69
Pallidopontonigral Degeneration 12 66 42 69
Multiple System Tauopathy with Presenile Dementia 12 50 66
Frontotemporal Lobar Degeneration 12 66 69
Ftd 50 24 66
Frontotemporal Lobar Degeneration with Tau Inclusions 24 66
Frontotemporal Dementia with Parkinsonism 50 66
Frontotemporal Lobe Dementia 50 66
Mstd 50 66
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 66
Dementia, Frontotemporal, with or Without Parkinsonism 54
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex 66
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis 66
Frontotemporal Dementia with Motor Neuron Disease 69
Frontotemporal Dementia with Parkinsonism-17 69
Dementia, Frontotemporal, with Parkinsonism 50
Grn-Related Frontotemporal Dementia 69
Pick Disease of the Brain 69
Wilhelmsen-Lynch Disease 66
Ftld with Tau Inclusions 66
Wilhemsen-Lynch Disease 12
Pick Complex 66
Ftd-Als 66
Ftdp17 66
Ddpac 66
Fldem 66
Ftld 66
Ppnd 66
Wld 66

Characteristics:

HPO:

32
dementia, frontotemporal:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 600274
Disease Ontology 12 DOID:9255
SNOMED-CT 64 42369001
UMLS 69 C0520716

Summaries for Dementia, Frontotemporal

OMIM : 54 Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar... (600274) more...

MalaCards based summary : Dementia, Frontotemporal, also known as frontotemporal dementia, is related to pick disease and amyotrophic lateral sclerosis 10, with or without ftd, and has symptoms including personality changes, irritability and amyotrophic lateral sclerosis. An important gene associated with Dementia, Frontotemporal is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. The drugs Dopamine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and amygdala, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

Disease Ontology : 12 A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.

NIH Rare Diseases : 50 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. while there are currently no treatments to slow or stop the progression of the disease, some of the symptoms can be managed. involving a team of specialists can help ensure that the challenges of the disease are properly addressed.  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: 6/30/2016

NINDS : 51 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.  The current designation 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.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

UniProtKB/Swiss-Prot : 66 Frontotemporal dementia: A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons.

Wikipedia : 71 Frontotemporal dementia (FTD) is the clinical presentation of frontotemporal lobar degeneration, which... more...

Related Diseases for Dementia, Frontotemporal

Diseases in the Dementia, Frontotemporal family:

Grn-Related Frontotemporal Dementia Tardbp-Related Frontotemporal Dementia

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

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 pick disease 32.0 APP PSEN1 PSEN2
2 amyotrophic lateral sclerosis 10, with or without ftd 11.8
3 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 11.7
4 amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 11.6
5 frontotemporal lobar degeneration with ubiquitin-positive inclusions 11.5
6 dementia 11.3
7 mapt-related disorders 11.3
8 frontotemporal dementia with parkinsonism-17 11.1
9 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.1
10 dementia, familial, nonspecific 11.0
11 grn-related frontotemporal dementia 10.9
12 wallerian degeneration 10.4
13 protein r deficiency 10.4 GRN MAPT
14 gata1-related thrombocytopenia 10.4 GRN MAPT PSEN1
15 hereditary paraganglioma-pheochromocytoma syndromes 10.4 GRN MAPT PSEN1
16 social emotional agnosia 10.4 GRN PSEN1 TARDBP
17 color agnosia 10.4 GRN PSEN1 TARDBP
18 autoimmune disease of blood 10.4 GRN PSEN1 TARDBP
19 keratosis palmoplantaris striata 10.4 APOE MAPT
20 deafness, autosomal recessive 101 10.4 MAPT RPS27A SNCA
21 adrenal cortical adenoma 10.3 SQSTM1 TARDBP VCP
22 mcleod neuroacanthocytosis syndrome 10.3 MAPT PSEN1
23 urethritis 10.3 APOE PSEN1 TARDBP
24 cyprus facial neuromusculoskeletal syndrome 10.3 MAPT RPS27A SNCA
25 ectodermal dysplasia mental retardation syndactyly 10.3 APP PSEN1 PSEN2
26 intracranial structure hemangioma 10.3 APP MAPT PSEN1
27 craniofacial and skeletal defects 10.3 MAPT RPS27A TARDBP
28 spink1-related hereditary pancreatitis 10.3 LRRK2 MAPT SNCA
29 cerebral arteritis 10.3 FUS PSEN1 TARDBP
30 juvenile amyotrophic lateral sclerosis with dementia 10.3 APP MAPT SNCA
31 cogan-reese syndrome 10.3 FUS TARDBP VCP
32 pediatric mesenchymal chondrosarcoma 10.3 GRN PSEN1 TARDBP
33 cardiomyopathy, dilated, 1v 10.3 APP PSEN1 PSEN2
34 atrial septal defect 9 10.3 APP MAPT SNCA
35 riedel's fibrosing thyroiditis 10.3 LRRK2 MAPT SNCA TARDBP
36 limited scleroderma 10.3 APOE APP PSEN1
37 encephalitozoonosis 10.3 APOE APP GRN PSEN1
38 chorioamnionitis 10.3 C9orf72 SOD1 TARDBP
39 plekhm1-related autosomal recessive osteopetrosis 10.3 LRRK2 MAPT SNCA
40 autotopagnosia 10.3 APOE C9orf72 GRN MAPT
41 neurosarcoidosis 10.3 MAPT SNCA SOD1
42 foxp2-related speech and language disorders 10.3 APP PSEN1 PSEN2 SERPINI1
43 proteus syndrome, somatic 10.3 RPS27A SNCA VCP
44 lower gum cancer 10.3 ACHE LRRK2 RPS27A SNCA
45 bone dysplasia azouz type 10.2 ACHE APOE APP MAPT
46 acrofrontofacionasal dysostosis 10.2 ACHE GRN MAPT PSEN1 TARDBP
47 mitochondrial dna depletion syndrome 3 10.2 C9orf72 GRN MAPT SNCA TARDBP
48 hard palate cancer 10.2 APOE APP PSEN1 SNCA
49 benign partial epilepsy with secondarily generalized seizures in infancy 10.2 FUS LRRK2 MAPT SNCA
50 postauricular lymphadenitis 10.2 FUS GRN MAPT PSEN1 TARDBP

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



Diseases related to Dementia, Frontotemporal

Symptoms & Phenotypes for Dementia, Frontotemporal

Symptoms by clinical synopsis from OMIM:

600274

Clinical features from OMIM:

600274

Human phenotypes related to Dementia, Frontotemporal:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 personality changes 32 HP:0000751
2 irritability 32 HP:0000737
3 amyotrophic lateral sclerosis 32 HP:0007354
4 polyphagia 32 HP:0002591
5 apathy 32 HP:0000741
6 parkinsonism 32 HP:0001300
7 disinhibition 32 HP:0000734
8 inappropriate sexual behavior 32 HP:0008768
9 neuronal loss in central nervous system 32 HP:0002529
10 language impairment 32 HP:0002463
11 frontal lobe dementia 32 HP:0000727
12 hyperorality 32 HP:0000710
13 frontotemporal dementia 32 HP:0002145
14 inappropriate laughter 32 HP:0000748
15 primitive reflex 32 HP:0002476

UMLS symptoms related to Dementia, Frontotemporal:


myoclonus, personality changes

GenomeRNAi Phenotypes related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.81 INA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.81 INA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 FUS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.81 SOD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.81 SOD1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.81 INA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.81 MAPT
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.81 MAPT
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.81 FUS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.81 INA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.81 INA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 FUS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.81 SOD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 FUS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.81 SOD1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.81 INA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.81 INA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.81 FUS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.81 FUS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.81 SOD1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.81 SOD1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.81 MAPT
23 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.81 SOD1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.81 SOD1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.81 INA MAPT SOD1 FUS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.81 FUS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.81 FUS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.81 MAPT

MGI Mouse Phenotypes related to Dementia, Frontotemporal:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.39 ACHE APOE APP C9orf72 GRN LRRK2
2 cellular MP:0005384 10.31 PSEN2 SNCA SOD1 SQSTM1 TARDBP VCP
3 hematopoietic system MP:0005397 10.27 MAPT PSEN1 PSEN2 SOD1 SQSTM1 TARDBP
4 growth/size/body region MP:0005378 10.26 ACHE APOE APP C9orf72 MAPT PSEN1
5 homeostasis/metabolism MP:0005376 10.25 SNCA SOD1 SQSTM1 TARDBP ACHE APOE
6 immune system MP:0005387 10.22 APOE APP C9orf72 GRN LRRK2 MAPT
7 mortality/aging MP:0010768 10.17 C9orf72 GRN LRRK2 MAPT PSEN1 PSEN2
8 integument MP:0010771 10.07 APOE APP LRRK2 MAPT PSEN1 PSEN2
9 nervous system MP:0003631 10.06 MAPT PSEN1 PSEN2 SNCA SOD1 SQSTM1
10 muscle MP:0005369 9.86 SOD1 TARDBP VCP ACHE APOE APP
11 no phenotypic analysis MP:0003012 9.61 ACHE APOE APP C9orf72 GRN LRRK2
12 skeleton MP:0005390 9.28 APOE C9orf72 LRRK2 PSEN1 SNCA SOD1

Drugs & Therapeutics for Dementia, Frontotemporal

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

(show top 50) (show all 105)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
4
Citalopram Approved Phase 4 59729-33-8 2771
5
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
6
Amantadine Approved Phase 4 768-94-5 2130
7 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1
8
Corticosterone Phase 4,Phase 1,Early Phase 1 50-22-6 5753
9 Analgesics Phase 4
10
Serotonin Phase 4 50-67-9 5202
11 Serotonin Agents Phase 4
12 Narcotic Antagonists Phase 4
13 Narcotics Phase 4
14 Serotonin Uptake Inhibitors Phase 4
15 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
16 Neurotransmitter Uptake Inhibitors Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Analgesics, Opioid Phase 4
19 Peripheral Nervous System Agents Phase 4,Phase 2
20 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
22 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
23 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Antidepressive Agents Phase 4,Phase 2
25 Antidepressive Agents, Second-Generation Phase 4
26 Psychotropic Drugs Phase 4,Phase 2
27 Antipyretics Phase 4
28 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
29 Antiparkinson Agents Phase 4,Phase 3,Phase 2
30 Central Nervous System Depressants Phase 4,Phase 2
31 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
32
Iodine Phase 4 7553-56-2 807
33 cadexomer iodine Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Calamus Nutraceutical Phase 4
36
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
37
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
38
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
39
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
40
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
41
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
42 tannic acid Approved, Nutraceutical Phase 3
43
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
44 Prednisolone acetate Phase 2, Phase 3
45 Alkylating Agents Phase 2, Phase 3
46 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
47 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
48 Anti-HIV Agents Phase 3,Phase 2,Phase 1
49 Prednisolone hemisuccinate Phase 2, Phase 3
50 Prednisolone phosphate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 148)
id Name Status NCT ID Phase
1 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4
2 Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4
3 Efficacy of Pain Treatment on Depression in Patients With Dementia Completed NCT02267057 Phase 4
4 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4
5 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4
6 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4
7 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Terminated NCT00127114 Phase 4
8 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3
9 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3
10 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3
11 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
12 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Recruiting NCT02534844 Phase 2, Phase 3
13 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3
14 Investigating the Clinical Consequences of Flutemetamol-PET-scanning Recruiting NCT02353949 Phase 3
15 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3
16 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
17 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Enrolling by invitation NCT02245568 Phase 3
18 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
19 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
20 Study to Assess the Safety, Tolerability, and Pharmacodynamic (PD) Effects of FRM-0334 in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2
21 A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia Completed NCT00416169 Phase 2
22 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2
23 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2
24 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2
25 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2
26 Electroencephalography (EEG) Biofeedback Training to Improve Executive Functioning and Memory in Adults With a Dementing Illness Completed NCT01168466 Phase 2
27 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
28 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
29 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2
30 Efficacy of 1072nm Infrared Stimulation on Executive Functioning in Dementia Completed NCT01059877 Phase 1, Phase 2
31 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2
32 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Recruiting NCT01937013 Phase 2
33 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2
34 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2
35 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2
36 Tau Brain Imaging in Typical and Atypical Alzheimer's Disease (AD) Recruiting NCT03022968 Phase 2
37 Effects of Tolcapone on Frontotemporal Dementia Active, not recruiting NCT00604591 Phase 2
38 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Active, not recruiting NCT01056965 Phase 2
39 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
40 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
41 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Enrolling by invitation NCT02676843 Phase 2
42 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2
43 F 18 T807 Tau PET Imaging of Frontotemporal Dementia (FTD) Not yet recruiting NCT02707978 Phase 2
44 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
45 Far Infrared Irradiation for the Management, Control and Treatment of Frontotemporal Dementia Unknown status NCT00674960 Phase 1
46 Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment Unknown status NCT00149175 Phase 1
47 Far Infrared Radiation Treatment of Dementia and Other Mental Illness Unknown status NCT00574054 Phase 1
48 Safety Study of Intranasal Oxytocin in Frontotemporal Dementia Completed NCT01386333 Phase 1
49 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
50 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1

Search NIH Clinical Center for Dementia, Frontotemporal

Cochrane evidence based reviews: frontotemporal dementia

Genetic Tests for Dementia, Frontotemporal

Genetic tests related to Dementia, Frontotemporal:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia 29
2 Dementia, Frontotemporal 24 PSEN1

Anatomical Context for Dementia, Frontotemporal

MalaCards organs/tissues related to Dementia, Frontotemporal:

39
Brain, Temporal Lobe, Amygdala

Publications for Dementia, Frontotemporal

Articles related to Dementia, Frontotemporal:

id Title Authors Year
1
Distinct patterns of olfactory impairment in Alzheimer's disease, semantic dementia, frontotemporal dementia, and corticobasal degeneration. ( 17270222 )
2007
2
Neurocognitive differential diagnosis of dementing diseases: Alzheimer's Dementia, Vascular Dementia, Frontotemporal Dementia, and Major Depressive Disorder. ( 17000529 )
2006

Variations for Dementia, Frontotemporal

UniProtKB/Swiss-Prot genetic disease variations for Dementia, Frontotemporal:

66 (show all 12)
id Symbol AA change Variation ID SNP ID
1 MAPT p.Gly589Val VAR_010345 rs63750376
2 MAPT p.Asn596Lys VAR_010346 rs63750756
3 MAPT p.Pro618Leu VAR_010348 rs63751273
4 MAPT p.Pro618Ser VAR_010349 rs63751438
5 MAPT p.Ser622Asn VAR_010350 rs63751165
6 MAPT p.Val654Met VAR_010351 rs63750570
7 MAPT p.Arg5His VAR_019660 rs63750959
8 MAPT p.Leu583Val VAR_019662 rs63750349
9 MAPT p.Asn613His VAR_019663 rs63750416
10 MAPT p.Glu659Val VAR_019666 rs63750711
11 MAPT p.Lys634Met VAR_037440 rs63750092
12 PSEN1 p.Leu113Pro VAR_016215 rs63751399

ClinVar genetic disease variations for Dementia, Frontotemporal:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 MAPT NM_016835.4(MAPT): c.1853C> T (p.Pro618Leu) single nucleotide variant Pathogenic rs63751273 GRCh37 Chromosome 17, 44087755: 44087755
2 MAPT NM_016835.4(MAPT): c.1766G> T (p.Gly589Val) single nucleotide variant Pathogenic rs63750376 GRCh37 Chromosome 17, 44074023: 44074023
3 MAPT NM_016835.4(MAPT): c.2167C> T (p.Arg723Trp) single nucleotide variant Pathogenic rs63750424 GRCh37 Chromosome 17, 44101427: 44101427
4 MAPT NM_016835.4(MAPT): c.1866+14C> T single nucleotide variant Pathogenic rs63750972 GRCh37 Chromosome 17, 44087782: 44087782
5 MAPT MAPT, IVS10, A-G, +13 single nucleotide variant Pathogenic
6 MAPT MAPT, IVS10, C-T, +16 single nucleotide variant Pathogenic
7 MAPT MAPT, IVS10, G-A, +1 single nucleotide variant Pathogenic
8 MAPT NM_016835.4(MAPT): c.1960G> A (p.Val654Met) single nucleotide variant Pathogenic rs63750570 GRCh37 Chromosome 17, 44095995: 44095995
9 MAPT NM_016835.4(MAPT): c.1788T> G (p.Asn596Lys) single nucleotide variant Pathogenic rs63750756 GRCh37 Chromosome 17, 44087690: 44087690
10 MAPT NM_016835.4(MAPT): c.1865G> A (p.Ser622Asn) single nucleotide variant Pathogenic rs63751165 GRCh37 Chromosome 17, 44087767: 44087767
11 MAPT NM_016835.4(MAPT): c.1852C> T (p.Pro618Ser) single nucleotide variant Pathogenic rs63751438 GRCh37 Chromosome 17, 44087754: 44087754
12 MAPT NM_016835.4(MAPT): c.1839T> C (p.Asn613=) single nucleotide variant Pathogenic rs63750912 GRCh37 Chromosome 17, 44087741: 44087741
13 MAPT NM_016835.4(MAPT): c.1976A> T (p.Glu659Val) single nucleotide variant Pathogenic rs63750711 GRCh37 Chromosome 17, 44096011: 44096011
14 MAPT MAPT, IVS10, T-C, +11 single nucleotide variant Pathogenic
15 MAPT NM_016835.4(MAPT): c.1747C> G (p.Leu583Val) single nucleotide variant Pathogenic rs63750349 GRCh37 Chromosome 17, 44074004: 44074004
16 MAPT NM_016835.4(MAPT): c.1901A> T (p.Lys634Met) single nucleotide variant Pathogenic rs63750092 GRCh37 Chromosome 17, 44091643: 44091643
17 PSEN1 NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro) single nucleotide variant Pathogenic rs63751399 GRCh37 Chromosome 14, 73637755: 73637755
18 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant risk factor rs5848 GRCh37 Chromosome 17, 42430244: 42430244
19 GRN NM_002087.3(GRN): c.87dupC (p.Cys30Leufs) duplication Pathogenic rs794729672 GRCh37 Chromosome 17, 42426619: 42426619
20 GRN NM_002087.3(GRN): c.462+1G> C single nucleotide variant Pathogenic rs794729669 GRCh37 Chromosome 17, 42427709: 42427709
21 GRN NM_002087.3(GRN): c.708+1G> A single nucleotide variant Pathogenic rs63749817 GRCh37 Chromosome 17, 42428169: 42428169
22 GRN NM_002087.3(GRN): c.882T> G (p.Tyr294Ter) single nucleotide variant Pathogenic rs794729670 GRCh37 Chromosome 17, 42428777: 42428777
23 GRN NM_002087.3(GRN): c.1212C> A (p.Cys404Ter) single nucleotide variant Pathogenic rs193026789 GRCh37 Chromosome 17, 42429415: 42429415
24 GRN NM_002087.3(GRN): c.1246dupT (p.Cys416Leufs) duplication Pathogenic rs794729671 GRCh37 Chromosome 17, 42429449: 42429449

Copy number variations for Dementia, Frontotemporal from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 112169 17 38100000 38400000 Deletion MAPT Frontotemporal lobar degeneration
2 112794 17 41065963 41505032 Insertion CRHR1 Frontotemporal lobar degeneration
3 112795 17 41065963 41505032 Insertion IMP5 Frontotemporal lobar degeneration
4 112796 17 41065963 41505032 Insertion MAPT Frontotemporal lobar degeneration
5 112797 17 41065963 41505032 Insertion STH Frontotemporal lobar degeneration
6 113644 17 44900000 47400000 Deletion GRN Frontotemporal lobar degeneration

Expression for Dementia, Frontotemporal

Search GEO for disease gene expression data for Dementia, Frontotemporal.

Pathways for Dementia, Frontotemporal

GO Terms for Dementia, Frontotemporal

Cellular components related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.99 APP C9orf72 LRRK2 PSEN1 SOD1 SQSTM1
2 endosome GO:0005768 9.93 APP C9orf72 CHMP2B GRN LRRK2 SQSTM1
3 dendrite GO:0030425 9.92 APOE FUS LRRK2 MAPT PSEN1
4 perinuclear region of cytoplasm GO:0048471 9.87 ACHE APP FUS PSEN1 PSEN2 SNCA
5 axon GO:0030424 9.83 APP LRRK2 MAPT PSEN1 SNCA
6 myelin sheath GO:0043209 9.8 INA RPS27A SOD1 VCP
7 terminal bouton GO:0043195 9.74 APP LRRK2 SNCA
8 neuromuscular junction GO:0031594 9.72 ACHE APP PSEN1
9 rough endoplasmic reticulum GO:0005791 9.71 APP PSEN1 SNCA
10 lysosome GO:0005764 9.7 C9orf72 CHMP2B GRN LRRK2 SNCA SOD1
11 extracellular space GO:0005615 9.7 ACHE APOE APP C9orf72 GRN INA
12 growth cone GO:0030426 9.65 APP LRRK2 MAPT PSEN1 SNCA
13 autolysosome GO:0044754 9.58 LRRK2 SQSTM1
14 ciliary rootlet GO:0035253 9.56 APP PSEN1
15 inclusion body GO:0016234 9.54 LRRK2 SNCA SQSTM1
16 amphisome GO:0044753 9.4 LRRK2 SQSTM1
17 neuronal cell body GO:0043025 9.28 APOE FUS LRRK2 MAPT PSEN1 PSEN2
18 nucleus GO:0005634 10.45 ACHE APOE C9orf72 FUS LRRK2 MAPT
19 cytoplasm GO:0005737 10.35 APOE APP C9orf72 CHMP2B FUS LRRK2
20 extracellular exosome GO:0070062 10.28 APOE APP CHMP2B GRN LRRK2 RPS27A
21 extracellular region GO:0005576 10.25 ACHE APOE APP C9orf72 GRN SERPINI1
22 endoplasmic reticulum GO:0005783 10.16 APOE GRN LRRK2 PSEN1 PSEN2 SQSTM1
23 Golgi apparatus GO:0005794 10.14 ACHE APOE APP LRRK2 PSEN1 PSEN2

Biological processes related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.97 PSEN1 PSEN2 RPS27A SNCA SOD1 SQSTM1
2 positive regulation of protein phosphorylation GO:0001934 9.86 APP LRRK2 PSEN1 SQSTM1
3 cellular response to oxidative stress GO:0034599 9.83 LRRK2 SNCA SOD1
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.82 MAPT SNCA VCP
5 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.81 LRRK2 PSEN1 VCP
6 negative regulation of neuron apoptotic process GO:0043524 9.81 APOE PSEN1 SNCA SOD1
7 endosomal transport GO:0016197 9.8 CHMP2B RPS27A SQSTM1
8 cellular protein metabolic process GO:0044267 9.77 APOE APP PSEN1 RPS27A SNCA
9 regulation of autophagy GO:0010506 9.76 C9orf72 LRRK2 MAPT
10 Notch signaling pathway GO:0007219 9.76 APP PSEN1 PSEN2 RPS27A
11 negative regulation of neuron death GO:1901215 9.74 APOE LRRK2 SNCA
12 positive regulation of apoptotic process GO:0043065 9.73 PSEN1 PSEN2 RPS27A SNCA SOD1 SQSTM1
13 synapse organization GO:0050808 9.71 APP MAPT SNCA
14 positive regulation of catalytic activity GO:0043085 9.71 APOE PSEN1 PSEN2 SOD1
15 response to reactive oxygen species GO:0000302 9.67 APOE SOD1
16 Notch receptor processing GO:0007220 9.67 PSEN1 PSEN2
17 positive regulation of receptor recycling GO:0001921 9.67 PSEN1 SNCA
18 beta-amyloid metabolic process GO:0050435 9.66 PSEN1 PSEN2
19 microglial cell activation GO:0001774 9.66 MAPT SNCA
20 supramolecular fiber organization GO:0097435 9.65 MAPT SNCA
21 virion assembly GO:0019068 9.64 APOE RPS27A
22 positive regulation of superoxide anion generation GO:0032930 9.64 MAPT SOD1
23 amyloid precursor protein catabolic process GO:0042987 9.62 PSEN1 PSEN2
24 intracellular distribution of mitochondria GO:0048312 9.62 LRRK2 MAPT
25 negative regulation of protein phosphorylation GO:0001933 9.62 LRRK2 PSEN1 SNCA TARDBP
26 regulation of locomotion GO:0040012 9.61 LRRK2 SNCA
27 neurofilament cytoskeleton organization GO:0060052 9.61 INA SOD1
28 amyloid fibril formation GO:1990000 9.6 APP MAPT
29 regulation of mitochondrial fission GO:0090140 9.59 LRRK2 MAPT
30 cellular response to beta-amyloid GO:1904646 9.58 APP PSEN1
31 negative regulation of cholesterol biosynthetic process GO:0045541 9.55 APOE SOD1
32 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.52 APP PSEN1
33 astrocyte activation involved in immune response GO:0002265 9.48 APP PSEN1
34 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.43 APP PSEN1
35 response to oxidative stress GO:0006979 9.35 APOE APP LRRK2 PSEN1 SOD1
36 amyloid precursor protein metabolic process GO:0042982 9.33 ACHE APOE PSEN1
37 autophagy GO:0006914 9.1 C9orf72 CHMP2B LRRK2 PSEN1 SQSTM1 VCP

Molecular functions related to Dementia, Frontotemporal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 ACHE APOE LRRK2 MAPT SOD1 SQSTM1
2 tau protein binding GO:0048156 9.37 APOE SNCA
3 enzyme binding GO:0019899 9.35 APP MAPT SNCA SOD1 SQSTM1
4 identical protein binding GO:0042802 9.32 APOE APP FUS LRRK2 MAPT SNCA
5 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
6 protein binding GO:0005515 10.19 ACHE APOE APP C9orf72 CHMP2B FUS

Sources for Dementia, Frontotemporal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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