MCID: DMN033
MIFTS: 65

Dementia, Frontotemporal

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

Aliases & Classifications for Dementia, Frontotemporal

MalaCards integrated aliases for Dementia, Frontotemporal:

Name: Dementia, Frontotemporal 54 24 13
Frontotemporal Dementia 12 50 51 71 29 52 42 14 69
Pallidopontonigral Degeneration 12 71 42 69
Multiple System Tauopathy with Presenile Dementia 12 50 71
Frontotemporal Lobar Degeneration 12 71 69
Ftd 50 24 71
Frontotemporal Lobar Degeneration with Tau Inclusions 24 71
Frontotemporal Dementia with Parkinsonism 50 71
Frontotemporal Lobe Dementia 50 71
Semantic Dementia 56 69
Mstd 50 71
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 71
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 29
Frontotemporal Dementia, Right Temporal Atrophy Variant 56
Dementia, Frontotemporal, with or Without Parkinsonism 54
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex 71
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis 71
Frontotemporal Dementia with Motor Neuron Disease 69
Frontotemporal Dementia with Parkinsonism-17 69
Dementia, Frontotemporal, with Parkinsonism 50
Semantic Primary Progressive Aphasia 56
Grn-Related Frontotemporal Dementia 69
Pick Disease of the Brain 69
Wilhelmsen-Lynch Disease 71
Ftld with Tau Inclusions 71
Wilhemsen-Lynch Disease 12
Semantic Variant Ppa 56
Pick Complex 71
Ftd-Als 71
Ftdp17 71
Ddpac 71
Rvftd 56
Fldem 71
Ftld 71
Rtla 56
Ppnd 71
Wld 71

Characteristics:

Orphanet epidemiological data:

56
frontotemporal dementia, right temporal atrophy variant
Age of onset: Adult; Age of death: elderly;
semantic dementia
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
mean age at onset 45 years
highly variable phenotype that includes several subtypes (see, e.g., )
genetic heterogeneity (see, e.g., )
most cases do not have mutations in the mapt gene, but map to chromosome 17q


HPO:

32
dementia, frontotemporal:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Dementia, Frontotemporal

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.

MalaCards based summary : Dementia, Frontotemporal, also known as frontotemporal dementia, is related to pick disease and frontotemporal dementia and/or amyotrophic lateral sclerosis 2, and has symptoms including personality changes, irritability and parkinsonism. 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 Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and amygdala, and related phenotypes are behavior/neurological and cellular

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

OMIM : 54
Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). 30,31:Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). (600274)

UniProtKB/Swiss-Prot : 71 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 : 72 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 105)
id Related Disease Score Top Affiliating Genes
1 pick disease 30.9 APOE APP C9orf72 CHMP2B GRN INA
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.8
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.7
4 amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 12.0
5 amyotrophic lateral sclerosis 10, with or without ftd 11.8
6 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 11.7
7 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 11.5
8 amyotrohpic lateral sclerosis type 22 11.3
9 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 11.3
10 mapt-related disorders 11.3
11 dementia 11.3
12 nasu-hakola disease 11.2
13 semantic dementia 11.2
14 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.2
15 13q12.3 microdeletion syndrome 11.2 LRRK2 SNCA
16 simultanagnosia 11.1 GRN PSEN1 TARDBP
17 grn-related frontotemporal dementia 11.1
18 autotopagnosia 11.1 GRN PSEN1 TARDBP
19 dementia, familial, nonspecific 11.0
20 urethritis 11.0 APOE PSEN1 TARDBP
21 ectodermal dysplasia alopecia preaxial polydactyly 11.0 APP PSEN1 PSEN2
22 syndromic intellectual disability 11.0 SQSTM1 TARDBP VCP
23 basilar impression, primary 11.0 MAPT RPS27A SNCA
24 3mc syndrome 11.0 GRN MAPT PSEN1 TARDBP
25 intracranial structure hemangioma 11.0 APP MAPT PSEN1
26 retinitis pigmentosa 13 11.0 C9orf72 SOD1 TARDBP
27 acquired purpura fulminans 11.0 APOE MAPT
28 submandibular adenitis 11.0 GRN MAPT PSEN1 TARDBP
29 diffuse alopecia areata 11.0 GRN PSEN1 PSEN2
30 sparc-related osteogenesis imperfecta 11.0 LRRK2 MAPT SNCA
31 frontotemporal dementia with parkinsonism-17 11.0
32 neuromyotonia and axonal neuropathy, autosomal recessive 11.0 C9orf72 SOD1 TARDBP VCP
33 sebaceous gland disease 11.0 LRRK2 RPS27A SNCA
34 perry syndrome 11.0 C9orf72 GRN SNCA TARDBP
35 hyperekplexia, hereditary 1, autosomal dominant or recessive 11.0 APP MAPT RPS27A SNCA
36 akinetic mutism 11.0 APOE APP GRN PSEN1
37 auditory agnosia 11.0 APOE C9orf72 GRN MAPT
38 cough headache 11.0 MAPT RPS27A TARDBP
39 riedel's fibrosing thyroiditis 11.0 LRRK2 MAPT SNCA TARDBP
40 ceroid lipofuscinosis, neuronal, 11 11.0 GRN MAPT RPS27A SQSTM1 TARDBP
41 pulmonary systemic sclerosis 11.0 APOE APP MAPT
42 epimerase deficiency galactosemia 11.0 APP PSEN1 PSEN2
43 extraosseous ewings sarcoma-primitive neuroepithelial tumor 11.0 GRN PSEN1
44 seow najjar syndrome 11.0 APOE GRN MAPT RPS27A TARDBP
45 limited scleroderma 11.0 APOE APP MAPT PSEN1
46 alzheimer disease-4 10.9 PSEN1 PSEN2
47 bladder cancer, childhood 10.9 APOE APP MAPT
48 fetal alcohol spectrum disorder 10.9 C9orf72 SOD1 TARDBP
49 piebald trait, kit-related 10.9 LRRK2 MAPT SNCA
50 atrioventricular septal defect 5 10.9 APP MAPT SNCA

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



Diseases related to Dementia, Frontotemporal

Symptoms & Phenotypes for Dementia, Frontotemporal

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Behavioral Psychiatric Manifestations:
personality changes
irritability
apathy
disinhibition
hyperphagia
more
Neurologic- Central Nervous System:
parkinsonism
amyotrophic lateral sclerosis
frontal lobe dementia
language impairment
word-finding difficulties
more

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 parkinsonism 32 HP:0001300
4 apathy 32 HP:0000741
5 disinhibition 32 HP:0000734
6 frontotemporal dementia 32 HP:0002145
7 hyperorality 32 HP:0000710
8 amyotrophic lateral sclerosis 32 HP:0007354
9 frontal lobe dementia 32 HP:0000727
10 language impairment 32 HP:0002463
11 polyphagia 32 HP:0002591
12 inappropriate laughter 32 HP:0000748
13 inappropriate sexual behavior 32 HP:0008768
14 neuronal loss in central nervous system 32 HP:0002529
15 primitive reflex 32 HP:0002476

UMLS symptoms related to Dementia, Frontotemporal:


myoclonus, personality changes

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 10.36 APOE APP C9orf72 GRN LRRK2 MAPT
2 cellular MP:0005384 10.29 APOE APP C9orf72 GRN LRRK2 MAPT
3 growth/size/body region MP:0005378 10.23 APP C9orf72 MAPT PSEN1 PSEN2 SNCA
4 hematopoietic system MP:0005397 10.21 APOE APP C9orf72 GRN LRRK2 MAPT
5 immune system MP:0005387 10.21 APOE APP C9orf72 GRN LRRK2 MAPT
6 homeostasis/metabolism MP:0005376 10.18 APP GRN LRRK2 MAPT PSEN1 PSEN2
7 cardiovascular system MP:0005385 10.15 APOE LRRK2 MAPT PSEN1 PSEN2 SNCA
8 mortality/aging MP:0010768 10.07 APOE APP C9orf72 GRN LRRK2 MAPT
9 nervous system MP:0003631 10.03 VCP APOE APP C9orf72 CHMP2B GRN
10 integument MP:0010771 10.02 APOE APP LRRK2 MAPT PSEN1 PSEN2
11 no phenotypic analysis MP:0003012 9.61 APOE APP C9orf72 GRN LRRK2 MAPT
12 skeleton MP:0005390 9.28 APOE LRRK2 PSEN1 SNCA SOD1 SQSTM1

Drugs & Therapeutics for Dementia, Frontotemporal

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

(show top 50) (show all 113)
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
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Corticosterone Experimental Phase 4,Phase 1,Early Phase 1 50-22-6 5753
5
Iodine Investigational Phase 4 7553-56-2 807
6 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1
7 Antiparkinson Agents Phase 4,Phase 3,Phase 2
8 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
10 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
12 Antidepressive Agents Phase 4,Phase 2,Phase 1
13 Antidepressive Agents, Second-Generation Phase 4
14 Neurotransmitter Uptake Inhibitors Phase 4
15 Psychotropic Drugs Phase 4,Phase 2,Phase 1
16
Serotonin Phase 4 50-67-9 5202
17 Serotonin Agents Phase 4
18 Serotonin Uptake Inhibitors Phase 4
19 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
20 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
22 Anti-Inflammatory Agents Phase 4,Phase 1
23 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
24 Analgesics Phase 4,Phase 1
25 Analgesics, Non-Narcotic Phase 4,Phase 1
26 cadexomer iodine Phase 4
27 Calamus Nutraceutical Phase 4
28
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
29
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
30
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
31
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
32
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
34
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
35
Iron Approved Phase 2, Phase 3 7439-89-6 23925
36 tannic acid Approved, Nutraceutical Phase 3
37
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
38 Anti-HIV Agents Phase 3,Phase 2,Phase 1
39 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
40 Cardiac Glycosides Phase 3,Phase 2,Phase 1
41 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
42 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
43 Alkylating Agents Phase 2, Phase 3
44 Antilymphocyte Serum Phase 2, Phase 3
45 Antirheumatic Agents Phase 2, Phase 3,Phase 1
46 Immunosuppressive Agents Phase 2, Phase 3
47 Methylprednisolone acetate Phase 2, Phase 3
48 Methylprednisolone Hemisuccinate Phase 2, Phase 3
49 Prednisolone acetate Phase 2, Phase 3
50 Prednisolone hemisuccinate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 146)

id Name Status NCT ID Phase Drugs
1 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 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
4 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
5 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
6 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
7 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
8 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
9 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
10 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
11 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
12 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
13 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
14 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Enrolling by invitation NCT02245568 Phase 3 TRx0237
15 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
16 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
17 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
18 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 FRM-0334;Placebo
19 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
20 A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia Completed NCT00416169 Phase 2 galantamine hydrobromide
21 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
22 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
23 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
24 Electroencephalography (EEG) Biofeedback Training to Improve Executive Functioning and Memory in Adults With a Dementing Illness Completed NCT01168466 Phase 2
25 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
26 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
27 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
28 Efficacy of 1072nm Infrared Stimulation on Executive Functioning in Dementia Completed NCT01059877 Phase 1, Phase 2
29 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
30 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Recruiting NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
31 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
32 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
33 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2 Drug: F 18 T807
34 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 Olipudase alfa
35 Effects of Tolcapone on Frontotemporal Dementia Active, not recruiting NCT00604591 Phase 2 Tolcapone;Placebo
36 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Active, not recruiting NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
37 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
38 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
39 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Enrolling by invitation NCT02676843 Phase 2 18F-AV-1451
40 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
41 Intranasal Oxytocin for Frontotemporal Dementia Not yet recruiting NCT03260920 Phase 2 Syntocinon
42 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
43 F 18 T807 Tau PET Imaging of Frontotemporal Dementia (FTD) Withdrawn NCT02707978 Phase 2 F 18 T807
44 Far Infrared Irradiation for the Management, Control and Treatment of Frontotemporal Dementia Unknown status NCT00674960 Phase 1
45 Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment Unknown status NCT00149175 Phase 1
46 Far Infrared Radiation Treatment of Dementia and Other Mental Illness Unknown status NCT00574054 Phase 1
47 Safety Study of Intranasal Oxytocin in Frontotemporal Dementia Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
48 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
49 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
50 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918

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 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 29
3 Dementia, Frontotemporal 24 PSEN1

Anatomical Context for Dementia, Frontotemporal

MalaCards organs/tissues related to Dementia, Frontotemporal:

39
Brain, Temporal Lobe, Amygdala, Testes, Liver, Bone, Prefrontal Cortex

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:

71 (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 25)
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
25 MEF2C NM_001131005.2(MEF2C): c.-143+4180_-143+4193del deletion Likely pathogenic rs1085307051 GRCh37 Chromosome 5, 88179126: 88179139

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 22)
id Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.93 APP PSEN1 PSEN2 SNCA VCP
2 cytoplasmic vesicle GO:0031410 9.91 APP C9orf72 LRRK2 PSEN1 SOD1 SQSTM1
3 endosome GO:0005768 9.91 APP C9orf72 CHMP2B GRN LRRK2 SQSTM1
4 myelin sheath GO:0043209 9.83 INA RPS27A SOD1 VCP
5 membrane raft GO:0045121 9.76 APP LRRK2 PSEN1
6 terminal bouton GO:0043195 9.74 APP LRRK2 SNCA
7 rough endoplasmic reticulum GO:0005791 9.72 APP PSEN1 SNCA
8 axon GO:0030424 9.72 APP LRRK2 MAPT PSEN1 SNCA
9 inclusion body GO:0016234 9.63 LRRK2 SNCA SQSTM1
10 autolysosome GO:0044754 9.58 LRRK2 SQSTM1
11 neuromuscular junction GO:0031594 9.56 APP PSEN1
12 neuronal cell body GO:0043025 9.56 APOE LRRK2 MAPT PSEN1 PSEN2 SERPINI1
13 growth cone GO:0030426 9.55 APP LRRK2 MAPT PSEN1 SNCA
14 dendritic shaft GO:0043198 9.49 APP PSEN1
15 amphisome GO:0044753 9.48 LRRK2 SQSTM1
16 ciliary rootlet GO:0035253 9.26 APP PSEN1
17 lysosome GO:0005764 9.23 C9orf72 CHMP2B GRN LRRK2 SNCA SOD1
18 cytoplasm GO:0005737 10.44 APOE APP C9orf72 CHMP2B LRRK2 MAPT
19 extracellular exosome GO:0070062 10.25 APOE APP CHMP2B GRN LRRK2 RPS27A
20 extracellular region GO:0005576 10.24 APOE APP C9orf72 GRN SERPINI1 SNCA
21 endoplasmic reticulum GO:0005783 10.15 APOE GRN LRRK2 PSEN1 PSEN2 SQSTM1
22 extracellular space GO:0005615 10.1 APOE APP C9orf72 GRN INA LRRK2

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

(show all 43)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.87 APP LRRK2 PSEN1 SQSTM1
2 cellular response to oxidative stress GO:0034599 9.85 LRRK2 SNCA SOD1
3 negative regulation of neuron apoptotic process GO:0043524 9.84 APOE PSEN1 SNCA SOD1
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.83 MAPT SNCA VCP
5 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.82 LRRK2 PSEN1 VCP
6 endosomal transport GO:0016197 9.81 CHMP2B RPS27A SQSTM1
7 Notch signaling pathway GO:0007219 9.8 APP PSEN1 PSEN2 RPS27A
8 cellular protein metabolic process GO:0044267 9.8 APOE APP PSEN1 RPS27A SNCA
9 positive regulation of apoptotic process GO:0043065 9.8 PSEN1 PSEN2 RPS27A SNCA SOD1 SQSTM1
10 regulation of autophagy GO:0010506 9.77 C9orf72 LRRK2 MAPT
11 negative regulation of neuron death GO:1901215 9.76 APOE LRRK2 SNCA
12 positive regulation of catalytic activity GO:0043085 9.73 APOE PSEN1 PSEN2 SOD1
13 Notch receptor processing GO:0007220 9.69 PSEN1 PSEN2
14 microglial cell activation GO:0001774 9.68 MAPT SNCA
15 cellular response to beta-amyloid GO:1904646 9.68 APP PSEN1
16 positive regulation of receptor recycling GO:0001921 9.68 PSEN1 SNCA
17 beta-amyloid metabolic process GO:0050435 9.68 PSEN1 PSEN2
18 supramolecular fiber organization GO:0097435 9.67 MAPT SNCA
19 negative regulation of protein phosphorylation GO:0001933 9.67 LRRK2 PSEN1 SNCA TARDBP
20 positive regulation of superoxide anion generation GO:0032930 9.66 MAPT SOD1
21 response to reactive oxygen species GO:0000302 9.66 APOE SOD1
22 virion assembly GO:0019068 9.65 APOE RPS27A
23 amyloid precursor protein metabolic process GO:0042982 9.65 APOE PSEN1
24 macroautophagy GO:0016236 9.65 CHMP2B RPS27A SQSTM1
25 response to oxidative stress GO:0006979 9.65 APOE APP LRRK2 PSEN1 SOD1
26 amyloid fibril formation GO:1990000 9.63 APP MAPT
27 amyloid precursor protein catabolic process GO:0042987 9.62 PSEN1 PSEN2
28 regulation of locomotion GO:0040012 9.62 LRRK2 SNCA
29 regulation of mitochondrial fission GO:0090140 9.61 LRRK2 MAPT
30 intracellular distribution of mitochondria GO:0048312 9.61 LRRK2 MAPT
31 neurofilament cytoskeleton organization GO:0060052 9.6 INA SOD1
32 negative regulation of cholesterol biosynthetic process GO:0045541 9.56 APOE SOD1
33 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.55 APP PSEN1
34 astrocyte activation involved in immune response GO:0002265 9.51 APP PSEN1
35 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.46 APP PSEN1
36 positive regulation of long-term synaptic potentiation GO:1900273 9.39 APP
37 locomotory exploration behavior GO:0035641 9.37 LRRK2
38 positive regulation of protein binding GO:0032092 9.33 LRRK2
39 synapse organization GO:0050808 9.33 APP MAPT SNCA
40 modulation of age-related behavioral decline GO:0090647 9.27 APP
41 autophagy GO:0006914 9.1 C9orf72 CHMP2B LRRK2 PSEN1 SQSTM1 VCP
42 astrocyte activation GO:0048143 8.65 MAPT
43 negative regulation of apoptotic process GO:0043066 10 PSEN1 PSEN2 RPS27A SNCA SOD1 SQSTM1

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

id Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.4 APOE SNCA
2 enzyme binding GO:0019899 9.35 APP MAPT SNCA SOD1 SQSTM1
3 tau protein binding GO:0048156 9.32 APOE SNCA
4 identical protein binding GO:0042802 9.28 APOE APP LRRK2 MAPT SNCA SOD1
5 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.96 PSEN1
7 protein binding GO:0005515 10.27 APOE APP C9orf72 CHMP2B GRN LRRK2

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
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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