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FTD
MCID: FRN006
MIFTS: 69

Frontotemporal Dementia (FTD)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Frontotemporal Dementia

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MalaCards integrated aliases for Frontotemporal Dementia:

Name: Frontotemporal Dementia 56 12 74 52 53 58 73 29 54 6 43 15 71
Frontotemporal Lobar Degeneration 12 73 36 15 71
Pallidopontonigral Degeneration 56 12 73 43 71
Multiple System Tauopathy with Presenile Dementia 56 12 52 73
Dementia, Frontotemporal 56 74 13 39
Ftd 56 52 58 73
Frontotemporal Dementia with Parkinsonism 56 52 73
Frontotemporal Lobe Dementia 56 52 73
Mstd 56 52 73
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex 56 73
Frontotemporal Lobar Degeneration with Tau Inclusions 56 73
Dementia, Frontotemporal, with Parkinsonism 56 52
Ftld with Tau Inclusions 56 73
Wilhelmsen-Lynch Disease 56 73
Ftdp17 56 73
Fldem 56 73
Ddpac 56 73
Ppnd 56 73
Wld 56 73
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 73
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; Ddpac 56
Multiple System Tauopathy with Presenile Dementia; Mstd 56
Frontotemporal Dementia, Right Temporal Atrophy Variant 58
Dementia, Frontotemporal, with or Without Parkinsonism 56
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis 73
Frontotemporal Dementia with Motor Neuron Disease 71
Frontotemporal Dementia with Parkinsonism-17 71
Pallidopontonigral Degeneration; Ppnd 56
Frontotemporal Lobe Dementia; Fldem 56
Grn-Related Frontotemporal Dementia 71
Wilhelmsen-Lynch Disease; Wld 56
Pick Disease of the Brain 71
Wilhemsen-Lynch Disease 12
Pick Complex 73
Ftd-Als 73
Rvftd 58
Ftld 73
Rtla 58

Characteristics:

Orphanet epidemiological data:

58
frontotemporal dementia
Inheritance: Autosomal dominant; Age of onset: Adult;
frontotemporal dementia, right temporal atrophy variant
Age of onset: Adult; Age of death: elderly;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
frontotemporal dementia:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9255
OMIM 56 600274
KEGG 36 H00078
SNOMED-CT 67 42369001
MESH via Orphanet 44 D057180
ICD10 via Orphanet 33 G31.0
UMLS via Orphanet 72 C0338451
UMLS 71 C0236642 C0338451 C0520716 more
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Summaries for Frontotemporal Dementia

About this section
NIH Rare Diseases : 52 Frontotemporal dementias (FTDs) are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language. People with behavior changes may have disinhibition (with socially inappropriate behavior), apathy and loss of empathy, hyperorality (eating excessive amounts of food or attempting to consume inedible things), agitation, compulsive behavior, and various other changes. Examples of problems with language include difficulty speaking or understanding speech. Some people with FTD also develop a motor syndrome such as parkinsonism or motor neuron disease (which may be associated with various additional symptoms). There is a strong genetic component to FTDs. It sometimes follows an autosomal dominant inheritance pattern, or sometimes there is a general family history of dementia or psychiatric disorders. The three main genes responsible for familial FTD are MAPT , GRN , and C9orf72 . However, the genetic cause of familial FTD cannot always be identified. While there are currently no treatments to slow or stop the progression of the disease, some of the symptoms can be managed. Treatment of symptoms may involve behavior modification, or medications for symptoms such as aggressiveness, agitation, or dangerous behaviors. Anti-depressants have been shown to improve some symptoms. Involving a team of specialists can help ensure that the challenges of the disease are properly addressed. Unfortunately, the outlook for people with FTD is poor, as the disease often progresses rapidly. However, the outlook does vary, with the disease course ranging from less than 2 years in some people, to more than 10 years in others. Although the name and classification of FTD has been a topic of discussion for over a century, the current classification considers Pick's disease , primary progressive aphasia , and semantic dementia as sub-types of FTD.

MalaCards based summary : Frontotemporal Dementia, also known as frontotemporal lobar degeneration, is related to inclusion body myopathy with paget disease of bone and frontotemporal dementia and frontotemporal dementia and/or amyotrophic lateral sclerosis 1, and has symptoms including myoclonus and personality changes. An important gene associated with Frontotemporal Dementia is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are MAPK signaling pathway and Protein processing in endoplasmic reticulum. The drugs Citalopram and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and testes, and related phenotypes are memory impairment and frontotemporal dementia

Disease Ontology : 12 A dementia 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.

OMIM : 56 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)

NINDS : 53 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.

KEGG : 36 Frontotemporal lobar degeneration (FTLD) is a heterogeneous syndrome with the common feature being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations in progranulin and valosin are associated with TDP-43 inclusions. The CHMP2B mutations are associated with ubiquitin-positive pathology.

UniProtKB/Swiss-Prot : 73 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 : 74 The frontotemporal dementias (FTD) encompass six types of dementia involving the frontal or temporal... more...

Sources

Related Diseases for Frontotemporal Dementia

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Diseases in the Frontotemporal Dementia family:

Grn-Related Frontotemporal Dementia Chmp2b-Related Frontotemporal Dementia

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

(show top 50) (show all 417)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with paget disease of bone and frontotemporal dementia 35.7 VCP UBQLN2 TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 35.7 VCP UBQLN2 TUBA4A TMEM106B TBK1 TARDBP
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 35.4 SQSTM1 CHCHD10
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 35.3 TUBA4A CHCHD10
5 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 35.2 TBK1 CHCHD10
6 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 35.1 UBQLN2 TARDBP FUS C9orf72
7 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 35.0 MAPT GRN
8 pick disease of brain 34.8 VCP UBQLN2 TMEM106B TARDBP SQSTM1 SNCA
9 semantic dementia 34.2 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
10 supranuclear palsy, progressive, 1 34.0 VCP TMEM106B TARDBP SNCA PSEN1 MAPT
11 amyotrophic lateral sclerosis type 14 34.0 VCP UBQLN2 FUS CHMP2B C9orf72
12 progressive non-fluent aphasia 33.9 VCP TMEM106B TBK1 PSEN1 MAPT GRN
13 amyotrophic lateral sclerosis type 15 33.5 UBQLN2 CHMP2B C9orf72
14 dementia 33.4 VCP UBQLN2 TUBA4A TMEM106B TBK1 TARDBP
15 perry syndrome 33.4 VCP TARDBP SNCA MAPT GRN FUS
16 amyotrophic lateral sclerosis type 6 33.3 UBQLN2 TARDBP FUS C9orf72
17 amyotrophic lateral sclerosis type 22 33.2 UBQLN2 TUBA4A
18 amyotrophic lateral sclerosis 1 33.1 VCP UBQLN2 TUBA4A TMEM106B TBK1 TARDBP
19 lateral sclerosis 33.0 VCP UBQLN2 TUBA4A TBK1 TARDBP SQSTM1
20 alzheimer disease 33.0 VCP TARDBP SQSTM1 SNCA PSEN1 MAPT
21 aphasia 32.9 VCP TMEM106B TBK1 TARDBP SNCA PSEN1
22 motor neuron disease 32.8 VCP TBK1 TARDBP SQSTM1 SNCA MAPT
23 myopathy 32.4 VCP SQSTM1 HNRNPA2B1 HNRNPA1 CHCHD10
24 apraxia 32.2 PSEN1 MAPT GRN C9orf72 APOE
25 paget's disease of bone 32.2 VCP SQSTM1 HNRNPA2B1 HNRNPA1
26 mutism 32.1 TARDBP MAPT GRN CHMP2B C9orf72
27 vascular dementia 32.0 PSEN1 MAPT APOE
28 movement disease 32.0 TARDBP SNCA MAPT FUS C9orf72
29 dementia, lewy body 31.9 VCP TARDBP SNCA PSEN1 MAPT GRN
30 prosopagnosia 31.9 TARDBP MAPT GRN CHMP2B C9orf72
31 nominal aphasia 31.8 VCP TARDBP MAPT GRN FUS CHMP2B
32 tremor 31.8 SNCA MAPT FUS
33 speech and communication disorders 31.8 VCP TARDBP PSEN1 MAPT GRN FUS
34 dysgraphia 31.7 TARDBP MAPT GRN CHMP2B C9orf72
35 agraphia 31.7 TARDBP MAPT GRN C9orf72
36 dystonia 31.7 SQSTM1 GRN FUS CHMP2B C9orf72 APOE
37 anosognosia 31.7 C9orf72 APOE
38 dyscalculia 31.7 VCP TARDBP GRN CHMP2B
39 prion disease 31.7 TARDBP SNCA PSEN1 MAPT APOE
40 normal pressure hydrocephalus 31.7 PSEN1 MAPT C9orf72 APOE
41 hydrocephalus 31.7 PSEN1 MAPT C9orf72 APOE
42 speech disorder 31.6 TARDBP MAPT GRN C9orf72
43 posterior cortical atrophy 31.6 MAPT APOE
44 primary lateral sclerosis, adult, 1 31.6 SNCA MAPT
45 inclusion body myositis 31.5 VCP TARDBP SQSTM1 MAPT APOE
46 myositis 31.5 VCP TARDBP SNCA PSEN1 MAPT
47 echolalia 31.5 MAPT GRN C9orf72
48 cerebral amyloid angiopathy, cst3-related 31.4 PSEN1 MAPT APOE
49 multiple system atrophy 1 31.4 SQSTM1 SNCA MAPT
50 amyotrophic lateral sclerosis 12 31.4 UBQLN2 TARDBP FUS CHMP2B

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



Diseases related to Frontotemporal Dementia
Sources

Symptoms & Phenotypes for Frontotemporal Dementia

About this section

Human phenotypes related to Frontotemporal Dementia:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
2 frontotemporal dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002145
3 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
4 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
5 frontotemporal cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006892
6 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
7 language impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002463
8 disinhibition 58 31 frequent (33%) Frequent (79-30%) HP:0000734
9 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
10 personality changes 58 31 frequent (33%) Frequent (79-30%) HP:0000751
11 inappropriate sexual behavior 58 31 frequent (33%) Frequent (79-30%) HP:0008768
12 hyperorality 58 31 frequent (33%) Frequent (79-30%) HP:0000710
13 glabellar reflex 58 31 frequent (33%) Frequent (79-30%) HP:0030904
14 prosopagnosia 58 31 frequent (33%) Frequent (79-30%) HP:0010528
15 ubiquitin-positive cerebral inclusion bodies 58 31 frequent (33%) Frequent (79-30%) HP:0012083
16 palmomental reflex 58 31 frequent (33%) Frequent (79-30%) HP:0030902
17 snout reflex 58 31 frequent (33%) Frequent (79-30%) HP:0030905
18 visual hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002367
19 decreased female libido 58 31 occasional (7.5%) Occasional (29-5%) HP:0030018
20 decreased male libido 58 31 occasional (7.5%) Occasional (29-5%) HP:0040306
21 behavioral abnormality 58 Frequent (79-30%)
22 cognitive impairment 58 Frequent (79-30%)
23 amyotrophic lateral sclerosis 31 HP:0007354
24 neuronal loss in central nervous system 31 HP:0002529
25 frontal lobe dementia 31 HP:0000727
26 primitive reflex 31 HP:0002476
27 inappropriate laughter 31 HP:0000748
28 diminished motivation 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
irritability
disinhibition
apathy
personality changes
inappropriate sexual behavior
more
Neurologic Central Nervous System:
amyotrophic lateral sclerosis
parkinsonism
language impairment
frontal lobe dementia
primitive reflexes (palmomental, snout, glabellar)
more

Clinical features from OMIM:

600274

UMLS symptoms related to Frontotemporal Dementia:


myoclonus, personality changes

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1

MGI Mouse Phenotypes related to Frontotemporal Dementia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10 APOE C9orf72 CHCHD10 GRN MAPT PSEN1
2 integument MP:0010771 9.81 APOE C9orf72 GRN MAPT PSEN1 SNCA
3 nervous system MP:0003631 9.7 APOE C9orf72 CHCHD10 CHMP2B GRN MAPT
4 no phenotypic analysis MP:0003012 9.17 APOE C9orf72 GRN MAPT SNCA TARDBP
Sources

Drugs & Therapeutics for Frontotemporal Dementia

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

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
4
Miglustat Approved Phase 4 72599-27-0 51634
5
Corticosterone Experimental Phase 4 50-22-6 5753
6
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
7 Serotonin Uptake Inhibitors Phase 4
8 Serotonin Agents Phase 4
9 Narcotics Phase 4
10 Antipyretics Phase 4
11 Analgesics, Opioid Phase 4
12 Narcotic Antagonists Phase 4
13 Fluorodeoxyglucose F18 Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Hypoglycemic Agents Phase 4
16 Anti-Retroviral Agents Phase 4
17 Cardiac Glycosides Phase 4
18 Glycoside Hydrolase Inhibitors Phase 4
19 Anti-HIV Agents Phase 4
20
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
21
tannic acid Approved Phase 3 1401-55-4
22
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
23
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
24
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
25
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
26
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
27
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
28
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
29 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
30
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
31
Methylene blue Approved, Investigational Phase 3 61-73-4
32
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
33 Psychotropic Drugs Phase 3
34 Tranquilizing Agents Phase 3
35 Central Nervous System Depressants Phase 3
36 Antipsychotic Agents Phase 3
37 Immunologic Factors Phase 2, Phase 3
38 Alkylating Agents Phase 2, Phase 3
39 Immunosuppressive Agents Phase 2, Phase 3
40 Antirheumatic Agents Phase 2, Phase 3
41 Serotonin 5-HT2 Receptor Antagonists Phase 3
42 Serotonin Antagonists Phase 3
43 Methylprednisolone Acetate Phase 2, Phase 3
44 Antilymphocyte Serum Phase 2, Phase 3
45
Galantamine Approved Phase 2 357-70-0 9651
46
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
47
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
48
Memantine Approved, Investigational Phase 2 19982-08-2 4054
49
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
50
Zinc Approved, Investigational Phase 2 7440-66-6 32051

Interventional clinical trials:

(show top 50) (show all 203)
# Name Status NCT ID Phase Drugs
1 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
2 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
3 Efficacy of Pain Treatment on Depression in Patients With Dementia. A Randomized Clinical Trial. Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
4 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
5 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
6 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)
7 A Training and Fidelity Model to Move and Scale Evidence-based Dementia Care and Caregiver Support Programs Into Practice: The Case for COPE in PACE Service Settings Not yet recruiting NCT04165213 Phase 4
8 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
9 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
10 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
11 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
12 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
13 A Double-blind, Placebo-controlled, Relapse Prevention Study of Pimavanserin for the Treatment of Hallucinations and Delusions Associated With Dementia-related Psychosis Completed NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
14 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
15 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
16 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
17 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
18 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
19 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
20 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
21 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
22 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
23 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
24 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
25 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
26 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
27 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
28 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
29 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
30 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
31 Direct Current Brain Polarization for Apraxia in Corticobasal Syndrome Completed NCT00273897 Phase 2
32 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
33 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 Recruiting NCT03987295 Phase 2 AL001
34 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
35 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
36 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
37 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
38 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
39 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
40 Multi-centered Double Blind, Placebo Controlled Study Evaluating the Safety and Efficacy of Memantine at 20 mg BID in Patients With ALS Recruiting NCT02118727 Phase 2 Memantine;Placebo (for Memantine)
41 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
42 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT04046991 Phase 2
43 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
44 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
45 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
46 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
47 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Unknown status NCT01586455 Phase 1 Human Placental Derived Stem Cell
48 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
49 18F-AV-1451 PET Imaging in Subjects With Frontotemporal Dementia Completed NCT03040713 Phase 1 18F-AV-1451;18F-AV-45
50 A Phase I Dose Finding Study of Intranasal Oxytocin in Frontotemporal Dementia, Protocol # FTDOXY10EF Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist

Search NIH Clinical Center for Frontotemporal Dementia

Cochrane evidence based reviews: frontotemporal dementia

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Genetic Tests for Frontotemporal Dementia

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Genetic tests related to Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia 29 MAPT PSEN1
Sources

Anatomical Context for Frontotemporal Dementia

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MalaCards organs/tissues related to Frontotemporal Dementia:

40
Brain, Temporal Lobe, Testes, Bone, Cortex, Amygdala, Liver
Sources

Publications for Frontotemporal Dementia

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Articles related to Frontotemporal Dementia:

(show top 50) (show all 6220)
# Title Authors PMID Year
1
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 54 61 56 6
11094121 2000
2
Distinct genetic forms of frontotemporal dementia. 61 56 6
18703462 2008
3
Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease. 61 56 6
17923640 2007
4
Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation. 61 56 6
11971082 2002
5
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 61 56 6
10412802 1999
6
A distinct familial presenile dementia with a novel missense mutation in the tau gene. 61 56 6
10208578 1999
7
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 61 56 6
9789048 1998
8
Tau gene mutation in familial progressive subcortical gliosis. 56 6
10202939 1999
9
A family with autosomal dominant, non-Alzheimer's presenile dementia. 56 6
9088499 1997
10
Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study. 56 6
8926492 1996
11
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. 56 6
7977375 1994
12
Familial progressive subcortical gliosis. 56 6
7936288 1994
13
Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. 56 6
1416801 1992
14
Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation. 54 61 6
18855025 2009
15
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 54 61 6
18183624 2008
16
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 54 61 6
17826340 2007
17
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 54 61 6
17620546 2007
18
Characteristics of frontotemporal dementia patients with a Progranulin mutation. 54 61 6
16983677 2006
19
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. 54 61 6
16983685 2006
20
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 54 61 6
16862115 2006
21
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 54 61 6
16862116 2006
22
Association between tau H2 haplotype and age at onset in frontotemporal dementia. 54 61 56
16157749 2005
23
The role of tau (MAPT) in frontotemporal dementia and related tauopathies. 54 61 6
15365985 2004
24
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. 54 61 6
14755449 2004
25
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 54 61 6
12509859 2003
26
Frontotemporal lobar degeneration--tau as a pied piper? 54 61 56
12481984 2002
27
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 54 61 6
11912108 2002
28
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 54 61 6
11891833 2002
29
Pick's disease associated with the novel Tau gene mutation K369I. 54 61 6
11601501 2001
30
Neurodegenerative tauopathies. 54 61 56
11520930 2001
31
Pick's disease is associated with mutations in the tau gene. 54 61 6
11117542 2000
32
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. 54 61 6
11117541 2000
33
Untangling tau-related dementia. 54 61 6
10767321 2000
34
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. 54 61 6
10553987 1999
35
Phenotypic variation in hereditary frontotemporal dementia with tau mutations. 54 61 6
10514099 1999
36
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 54 61 6
10374757 1999
37
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. 61 6
20142525 2010
38
Two distinct subtypes of right temporal variant frontotemporal dementia. 61 56
19884571 2009
39
The heritability and genetics of frontotemporal lobar degeneration. 61 56
19884572 2009
40
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. 61 6
19858458 2009
41
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. 54 61 46
18723524 2008
42
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. 54 6
18392865 2008
43
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. 54 6
17984093 2008
44
GRN Frontotemporal Dementia 61 6
20301545 2007
45
Clinicopathologic correlation in PGRN mutations. 61 6
17522386 2007
46
Frontotemporal Dementia, Chromosome 3-Linked 61 6
20301378 2007
47
Accuracy of the clinical evaluation for frontotemporal dementia. 61 56
17562930 2007
48
Distinctive MRI findings in pallidopontonigral degeneration (PPND). 61 56
17310038 2007
49
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 61 6
16807408 2006
50
Frontotemporal dementia: clinicopathological correlations. 61 56
16718704 2006
Sources

Variations for Frontotemporal Dementia

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ClinVar genetic disease variations for Frontotemporal Dementia:

6 (show top 50) (show all 217) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRN NM_002087.3(GRN):c.87dup (p.Cys30fs)duplication Pathogenic 203459 rs794729672 17:42426617-42426618 17:44349249-44349250
2 GRN NM_002087.3(GRN):c.462+1G>CSNV Pathogenic 203455 rs794729669 17:42427709-42427709 17:44350341-44350341
3 GRN NM_002087.3(GRN):c.882T>G (p.Tyr294Ter)SNV Pathogenic 203456 rs794729670 17:42428777-42428777 17:44351409-44351409
4 GRN NM_002087.3(GRN):c.1212C>A (p.Cys404Ter)SNV Pathogenic 203457 rs193026789 17:42429415-42429415 17:44352047-44352047
5 GRN NM_002087.3(GRN):c.1246dup (p.Cys416fs)duplication Pathogenic 203458 rs794729671 17:42429448-42429449 17:44352080-44352081
6 MAPT NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu)SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
7 MAPT NM_016835.4(MAPT):c.1766G>T (p.Gly589Val)SNV Pathogenic 14246 rs63750376 17:44074023-44074023 17:45996657-45996657
8 MAPT NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp)SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
9 MAPT NM_016835.4(MAPT):c.1866+14C>TSNV Pathogenic 14248 rs63750972 17:44087782-44087782 17:46010416-46010416
10 MAPT NM_016835.4(MAPT):c.1866+1G>ASNV Pathogenic 14251 rs1568327531 17:44087769-44087769 17:46010403-46010403
11 MAPT NM_016835.4(MAPT):c.1960G>A (p.Val654Met)SNV Pathogenic 14252 rs63750570 17:44095995-44095995 17:46018629-46018629
12 MAPT NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys)SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
13 MAPT NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn)SNV Pathogenic 14254 rs63751165 17:44087767-44087767 17:46010401-46010401
14 MAPT NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser)SNV Pathogenic 14256 rs63751438 17:44087754-44087754 17:46010388-46010388
15 MAPT NM_016835.4(MAPT):c.1839T>C (p.Asn613=)SNV Pathogenic 14257 rs63750912 17:44087741-44087741 17:46010375-46010375
16 MAPT NM_016835.4(MAPT):c.1976A>T (p.Glu659Val)SNV Pathogenic 14258 rs63750711 17:44096011-44096011 17:46018645-46018645
17 MAPT NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe)SNV Pathogenic 14262 rs63750635 17:44091652-44091652 17:46014286-46014286
18 MAPT NM_016835.4(MAPT):c.1747C>G (p.Leu583Val)SNV Pathogenic 14266 rs63750349 17:44074004-44074004 17:45996638-45996638
19 MAPT NM_016835.4(MAPT):c.1901A>T (p.Lys634Met)SNV Pathogenic 14268 rs63750092 17:44091643-44091643 17:46014277-46014277
20 GRN NM_002087.3(GRN):c.388_391del (p.Gln130fs)deletion Pathogenic 16011 rs63749801 17:42427631-42427634 17:44350263-44350266
21 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg)SNV Pathogenic 18124 rs63750590 14:73653568-73653568 14:73186860-73186860
22 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)SNV Pathogenic 18125 rs63750526 14:73659540-73659540 14:73192832-73192832
23 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)SNV Pathogenic 18127 rs661 14:73683933-73683933 14:73217225-73217225
24 PSEN1 NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)SNV Pathogenic 18131 rs63750231 14:73664808-73664808 14:73198100-73198100
25 PSEN1 NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)SNV Pathogenic 18155 rs63750083 14:73685885-73685885 14:73219177-73219177
26 PSEN1 NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)SNV Pathogenic 18157 rs63749824 14:73637653-73637653 14:73170945-73170945
27 PSEN1 NM_000021.4(PSEN1):c.806G>A (p.Arg269His)SNV Pathogenic 38297 rs63750900 14:73664775-73664775 14:73198067-73198067
28 PSEN1 NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)SNV Pathogenic 18143 rs63750082 14:73659420-73659420 14:73192712-73192712
29 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)SNV Pathogenic 98015 rs63750450 14:73640279-73640279 14:73173571-73173571
30 GRN NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer)short repeat Pathogenic 98152 rs63751035 17:42428449-42428450 17:44351081-44351082
31 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)SNV Pathogenic 98053 rs63750053 14:73659429-73659429 14:73192721-73192721
32 MAPT NM_016835.4(MAPT):c.1866T>C (p.Ser622=)SNV Pathogenic 98217 rs63750568 17:44087768-44087768 17:46010402-46010402
33 MAPT NM_016835.4(MAPT):c.1866+11T>CSNV Pathogenic 98219 rs63751394 17:44087779-44087779 17:46010413-46010413
34 MAPT NM_016835.4(MAPT):c.1866+13A>GSNV Pathogenic 98221 rs63750308 17:44087781-44087781 17:46010415-46010415
35 MAPT NM_016835.4(MAPT):c.1866+16C>TSNV Pathogenic 98222 rs63751011 17:44087784-44087784 17:46010418-46010418
36 PSEN1 NM_000021.4(PSEN1):c.869-2A>TSNV Pathogenic 579680 rs1566650594 14:73673092-73673092 14:73206384-73206384
37 GRN NM_002087.3(GRN):c.232dup (p.Ser78fs)duplication Pathogenic 599618 rs1567885658 17:42426886-42426887 17:44349518-44349519
38 GRN NM_002087.3(GRN):c.385dup (p.Ser129fs)duplication Pathogenic 599617 rs1567886206 17:42427630-42427631 17:44350262-44350263
39 GRN NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs)insertion Pathogenic 599609 rs1567886445 17:42427869-42427870 17:44350501-44350502
40 GRN NM_002087.3(GRN):c.560del (p.Leu187fs)deletion Pathogenic 599615 rs1567886478 17:42427907-42427907 17:44350539-44350539
41 GRN NM_002087.3(GRN):c.753_754TG[5] (p.Asp254fs)short repeat Pathogenic 599610 rs63751035 17:42428448-42428449 17:44351080-44351081
42 GRN NM_002087.3(GRN):c.776dup (p.Cys260fs)duplication Pathogenic 599612 rs1567887015 17:42428470-42428471 17:44351102-44351103
43 GRN NM_002087.3(GRN):c.1446C>A (p.Cys482Ter)SNV Pathogenic 599613 rs1567888461 17:42429741-42429741 17:44352373-44352373
44 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)SNV Pathogenic 659639 14:73640282-73640282 14:73173574-73173574
45 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)SNV Pathogenic/Likely pathogenic 98022 rs63751278 14:73640339-73640339 14:73173631-73173631
46 PSEN1 NM_000021.4(PSEN1):c.697A>G (p.Met233Val)SNV Pathogenic/Likely pathogenic 21028 rs63751287 14:73659500-73659500 14:73192792-73192792
47 GRN NM_002087.3(GRN):c.708+1G>ASNV Pathogenic/Likely pathogenic 203460 rs63749817 17:42428169-42428169 17:44350801-44350801
48 MEF2C NM_001131005.2(MEF2C):c.-143+4180_-143+4193deldeletion Likely pathogenic 219247 rs1085307051 5:88179126-88179139 5:88883309-88883322
49 PSEN1 NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)SNV Likely pathogenic 18136 rs63751223 14:73685869-73685869 14:73219161-73219161
50 PSEN1 NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)SNV Likely pathogenic 18145 rs63751399 14:73637755-73637755 14:73171047-73171047

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

73 (show all 12)
# 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

Sources

Expression for Frontotemporal Dementia

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

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Pathways related to Frontotemporal Dementia according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Protein processing in endoplasmic reticulum hsa04141
3 Endocytosis hsa04144
4 Wnt signaling pathway hsa04310
5 Notch signaling pathway hsa04330
6 Neurotrophin signaling pathway hsa04722

Pathways related to Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.56 TARDBP SNCA PSEN1 MAPT APOE
2
Alzheimers Disease Pathway 63
10.79 PSEN1 MAPT APOE
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GO Terms for Frontotemporal Dementia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.13 VCP UBQLN2 TUBA4A TBK1 TARDBP SQSTM1
2 dendrite GO:0030425 9.88 PSEN1 MAPT FUS C9orf72 APOE
3 endosome GO:0005768 9.8 TMEM106B SQSTM1 PSEN1 GRN CHMP2B C9orf72
4 neuronal cell body GO:0043025 9.77 SNCA PSEN1 MAPT FUS APOE
5 autophagosome GO:0005776 9.63 UBQLN2 SQSTM1 C9orf72
6 cytoplasmic stress granule GO:0010494 9.61 VCP TARDBP C9orf72
7 main axon GO:0044304 9.4 MAPT C9orf72
8 aggresome GO:0016235 9.33 TBK1 SQSTM1 PSEN1
9 growth cone GO:0030426 9.26 SNCA PSEN1 MAPT C9orf72
10 lysosome GO:0005764 9.1 TMEM106B SQSTM1 SNCA GRN CHMP2B C9orf72

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.84 TARDBP HNRNPA2B1 HNRNPA1 FUS
2 macroautophagy GO:0016236 9.69 VCP SQSTM1 CHMP2B
3 negative regulation of neuron apoptotic process GO:0043524 9.67 SNCA PSEN1 GRN APOE
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.63 VCP SNCA MAPT
5 regulation of neuronal synaptic plasticity GO:0048168 9.59 SNCA APOE
6 regulation of neuron death GO:1901214 9.58 TBK1 SNCA
7 lysosomal transport GO:0007041 9.58 TMEM106B GRN
8 synapse organization GO:0050808 9.58 SNCA PSEN1 MAPT
9 astrocyte activation GO:0048143 9.57 PSEN1 MAPT
10 stress granule assembly GO:0034063 9.56 MAPT C9orf72
11 positive regulation of receptor recycling GO:0001921 9.55 SNCA PSEN1
12 negative regulation of gene expression GO:0010629 9.55 TBK1 TARDBP PSEN1 MAPT APOE
13 gene expression GO:0010467 9.52 TARDBP FUS
14 regulation of autophagosome assembly GO:2000785 9.49 UBQLN2 C9orf72
15 supramolecular fiber organization GO:0097435 9.48 SNCA MAPT
16 amyloid precursor protein metabolic process GO:0042982 9.43 PSEN1 APOE
17 positive regulation of amyloid fibril formation GO:1905908 9.32 PSEN1 APOE
18 astrocyte activation involved in immune response GO:0002265 9.26 PSEN1 GRN
19 negative regulation of protein phosphorylation GO:0001933 9.26 TARDBP SNCA PSEN1 C9orf72
20 autophagy GO:0006914 9.1 VCP UBQLN2 SQSTM1 PSEN1 CHMP2B C9orf72

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 VCP UBQLN2 TUBA4A TMEM106B TBK1 TARDBP
2 RNA binding GO:0003723 10 VCP TARDBP MAPT HNRNPA2B1 HNRNPA1 GRN
3 protein domain specific binding GO:0019904 9.73 VCP SNCA HNRNPA1 CHMP2B
4 mRNA 3'-UTR binding GO:0003730 9.58 TARDBP HNRNPA2B1 FUS
5 G-rich strand telomeric DNA binding GO:0098505 9.37 HNRNPA2B1 HNRNPA1
6 pre-mRNA intronic binding GO:0097157 9.32 TARDBP HNRNPA2B1
7 lipoprotein particle binding GO:0071813 9.26 MAPT APOE
8 identical protein binding GO:0042802 9.23 VCP TBK1 TARDBP SQSTM1 SNCA MAPT
9 miRNA binding GO:0035198 9.13 NEAT1 HNRNPA2B1 HNRNPA1
Sources

Sources for Frontotemporal Dementia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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