FTD
MCID: FRN006
MIFTS: 72

Frontotemporal Dementia (FTD)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Frontotemporal Dementia

MalaCards integrated aliases for Frontotemporal Dementia:

Name: Frontotemporal Dementia 57 11 19 52 58 75 73 28 53 5 14 71 33
Frontotemporal Lobar Degeneration 11 73 14 71 33
Pallidopontonigral Degeneration 57 11 73 43 71
Multiple System Tauopathy with Presenile Dementia 57 11 19 73
Frontotemporal Lobe Dementia 57 19 73 33
Dementia, Frontotemporal 57 75 12 38
Semantic Dementia 19 58 53 71
Ftd 57 19 58 73
Frontotemporal Dementia with Parkinsonism 57 19 73
Mstd 57 19 73
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex 57 73
Dementia, Frontotemporal, with or Without Parkinsonism 57 28
Frontotemporal Lobar Degeneration with Tau Inclusions 57 73
Dementia, Frontotemporal, with Parkinsonism 57 19
Semantic Primary Progressive Aphasia 19 58
Ftld with Tau Inclusions 57 73
Wilhelmsen-Lynch Disease 57 73
Semantic Variant Ppa 19 58
Ftdp17 57 73
Fldem 57 73
Ddpac 57 73
Ppnd 57 73
Wld 57 73
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 73
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis 73
Frontotemporal Dementia with Motor Neuron Disease 71
Dementia in Fronto-Temporal Lobar Degeneration 33
Frontotemporal Dementia with Parkinsonism-17 71
Grn-Related Frontotemporal Dementia 71
Ftd - [frontotemporal Dementia] 33
Pick Disease of the Brain 71
Wilhemsen-Lynch Disease 11
Frontal Lobe Dementia 33
Temple Dementia 33
Pick Complex 73
Ftd-Als 73
Ftld 73

Characteristics:


Inheritance:

Frontotemporal Dementia: Autosomal dominant 58 57
Semantic Dementia: Multigenic/multifactorial 58

Prevelance:

1-9/100000 (Italy) 58

Age Of Onset:

Frontotemporal Dementia: Adult 58
Semantic Dementia: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:9255
OMIM® 57 600274
SNOMED-CT 68 42369001
MESH via Orphanet 44 D057180
ICD10 via Orphanet 32 G31.0
UMLS via Orphanet 72 C0338451 C0338462
UMLS 71 C0236642 C0338451 C0338462 more

Summaries for Frontotemporal Dementia

NINDS: 52 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: 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 PSEN1 (Presenilin 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Neuroscience. The drugs Memantine and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include brain, amygdala and bone marrow, and related phenotypes are brain atrophy and visual agnosia

OMIM®: 57 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) (Updated 08-Dec-2022)

GARD: 19 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.

Orphanet 58 Frontotemporal dementia: Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).

Semantic dementia: Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Wikipedia: 75 Frontotemporal dementia (FTD), or frontotemporal degeneration disease, or frontotemporal neurocognitive... more...

Related Diseases for Frontotemporal Dementia

Diseases in the Frontotemporal Dementia family:

Mapt-Related Frontotemporal Dementia

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

(show top 50) (show all 556)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with paget disease of bone and frontotemporal dementia 34.2 VCP TARDBP SQSTM1 OPTN MAPT HNRNPA2B1
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 34.2 VCP TMEM106B TARDBP SQSTM1 SETX PSEN1
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 34.1 VCP TMEM106B TARDBP MAPT GRN FUS
4 pick disease of brain 34.0 VCP TREM2 TMEM106B TARDBP SQSTM1 PSEN1
5 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 33.7 TARDBP SQSTM1 CHMP2B CHCHD10 CCNF C9orf72
6 dementia 33.7 VCP TREM2 TMEM106B TARDBP SQSTM1 PSEN1
7 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 33.7 TARDBP CHCHD10 CCNF C9orf72
8 amyotrophic lateral sclerosis 1 33.6 VCP TREM2 TMEM106B TARDBP SQSTM1 SETX
9 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 33.6 MAPT GRN
10 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 33.6 CHCHD10 CCNF C9orf72
11 supranuclear palsy, progressive, 1 33.4 VCP TREM2 TMEM106B TARDBP PSEN1 MAPT
12 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 33.3 VCP TARDBP SQSTM1 MAPT HNRNPA2B1 C9orf72
13 progressive non-fluent aphasia 33.2 VCP TREM2 TMEM106B PSEN1 MAPT GRN
14 multisystem proteinopathy 33.1 VCP TARDBP SQSTM1 OPTN HNRNPA2B1 FUS
15 motor neuron disease 33.1 VCP TARDBP SQSTM1 SETX OPTN MAPT
16 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 33.0 TARDBP SETX OPTN FUS CHMP2B C9orf72
17 amyotrophic lateral sclerosis type 14 33.0 VCP SETX OPTN FUS CHMP2B CHCHD10
18 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 33.0 VCP FUS
19 alzheimer disease, familial, 1 32.9 VCP TREM2 TARDBP SQSTM1 PSEN1 MAPT
20 aphasia 32.9 VCP TARDBP PSEN1 OPTN MAPT GRN
21 amyotrophic lateral sclerosis type 15 32.9 VCP SETX OPTN CHMP2B C9orf72
22 lateral sclerosis 32.8 VCP TMEM106B TARDBP SQSTM1 SETX OPTN
23 amyotrophic lateral sclerosis type 6 32.7 VCP TARDBP SETX OPTN FUS CHMP2B
24 perry syndrome 32.7 VCP TMEM106B TARDBP MAPT GRN FUS
25 leukoencephalopathy, hereditary diffuse, with spheroids 1 32.7 TREM2 TMEM106B GRN C9orf72
26 amyotrophic lateral sclerosis type 22 32.6 TARDBP CHCHD10 C9orf72
27 parkinsonism 32.5 TARDBP PSEN1 MAPT GRN DCTN1
28 dementia, lewy body 32.4 VCP TREM2 TMEM106B TARDBP SQSTM1 PSEN1
29 myopathy 32.2 VCP SQSTM1 MAPT HNRNPA2B1 FUS CHCHD10
30 paget's disease of bone 32.2 VCP TARDBP SQSTM1 OPTN HNRNPA2B1 GRN
31 corticobasal degeneration 32.1 TARDBP MAPT
32 parkinson disease, late-onset 31.9 VCP SQSTM1 PSEN1 NEAT1 MAPT FUS
33 mild cognitive impairment 31.9 TREM2 PSEN1 MAPT
34 movement disease 31.9 VCP TARDBP PSEN1 MAPT GRN FUS
35 mutism 31.8 MAPT GRN CHMP2B C9orf72
36 apraxia 31.8 SETX PSEN1 MAPT
37 nominal aphasia 31.7 VCP TARDBP PSEN1 MAPT GRN FUS
38 prosopagnosia 31.7 VCP TARDBP MAPT GRN FUS CHMP2B
39 huntington disease 31.7 TARDBP SQSTM1 PSEN1 NEAT1 MAPT C9orf72
40 mammary paget's disease 31.7 VCP SQSTM1 OPTN
41 speech and communication disorders 31.7 VCP TMEM106B TARDBP PSEN1 MAPT GRN
42 neuronal ceroid lipofuscinosis 31.7 VCP TMEM106B TARDBP SQSTM1 PSEN1 MAPT
43 creutzfeldt-jakob disease 31.6 TARDBP PSEN1 MAPT FUS C9orf72
44 anosognosia 31.5 PSEN1 MAPT C9orf72
45 agraphia 31.4 VCP TARDBP MAPT GRN CHMP2B C9orf72
46 ideomotor apraxia 31.4 TARDBP PSEN1 MAPT GRN FUS C9orf72
47 cerebral amyloid angiopathy, cst3-related 31.4 TREM2 TARDBP PSEN1 MAPT
48 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 31.4 TREM2 PSEN1 GRN
49 speech disorder 31.3 TARDBP MAPT GRN CHMP2B C9orf72
50 associative agnosia 31.3 VCP TARDBP MAPT GRN CHMP2B C9orf72

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



Diseases related to Frontotemporal Dementia

Symptoms & Phenotypes for Frontotemporal Dementia

Human phenotypes related to Frontotemporal Dementia:

58 30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012444
2 visual agnosia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030222
3 anomic aphasia 30 Hallmark (90%) HP:0030784
4 dysgraphia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010526
5 dyslexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010522
6 dementia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000726
7 alexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010523
8 abulia 58 30 Frequent (33%) Frequent (79-30%)
HP:0012671
9 parkinsonism 30 Very rare (1%) HP:0001300
10 amyotrophic lateral sclerosis 30 Very rare (1%) HP:0007354
11 neurological speech impairment 58 Frequent (79-30%)
12 irritability 30 HP:0000737
13 aphasia 58 Very frequent (99-80%)
14 disinhibition 30 HP:0000734
15 hyperorality 30 HP:0000710
16 apathy 30 HP:0000741
17 personality changes 30 HP:0000751
18 polyphagia 30 HP:0002591
19 frontal lobe dementia 30 HP:0000727
20 inappropriate laughter 30 HP:0000748
21 neuronal loss in central nervous system 30 HP:0002529
22 language impairment 30 HP:0002463
23 frontotemporal dementia 30 HP:0002145
24 abnormal test result 58 Very frequent (99-80%)
25 primitive reflex 30 HP:0002476
26 inappropriate sexual behavior 30 HP:0008768
27 anomia 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Behavioral Psychiatric Manifestations:
irritability
disinhibition
apathy
personality changes
inappropriate laughter
more
Neurologic Central Nervous System:
frontal lobe dementia
parkinsonism
language impairment
amyotrophic lateral sclerosis
primitive reflexes (palmomental, snout, glabellar)
more

Clinical features from OMIM®:

600274 (Updated 08-Dec-2022)

UMLS symptoms related to Frontotemporal Dementia:


myoclonus; personality changes

MGI Mouse Phenotypes related to Frontotemporal Dementia:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.41 C9orf72 CCNF CHCHD10 CHMP2B DCTN1 ERBB4
2 homeostasis/metabolism MP:0005376 10.31 C9orf72 CHCHD10 DCTN1 FUS GRN HNRNPA2B1
3 cellular MP:0005384 10.3 C9orf72 CCNF CHCHD10 CHMP2B DCTN1 ERBB4
4 growth/size/body region MP:0005378 10.22 C9orf72 CCNF CHCHD10 CHMP2B FUS GRN
5 behavior/neurological MP:0005386 10.2 C9orf72 CHCHD10 CHMP2B DCTN1 ERBB4 FUS
6 immune system MP:0005387 10.16 C9orf72 CHCHD10 CHMP2B DCTN1 ERBB4 FUS
7 muscle MP:0005369 10.06 CHCHD10 DCTN1 ERBB4 MAPT PSEN1 TARDBP
8 no phenotypic analysis MP:0003012 10.04 C9orf72 FUS GRN MAPT OPTN TARDBP
9 hematopoietic system MP:0005397 9.97 C9orf72 CHMP2B DCTN1 ERBB4 FUS GRN
10 mortality/aging MP:0010768 9.86 C9orf72 CCNF CHCHD10 CHMP2B DCTN1 ERBB4
11 integument MP:0010771 9.28 C9orf72 ERBB4 GRN MAPT NEAT1 PSEN1

Drugs & Therapeutics for Frontotemporal Dementia

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

(show top 50) (show all 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
2
Citalopram Approved Phase 4 59729-32-7, 59729-33-8 2771
3
Miglustat Approved Phase 4 72599-27-0 51634
4
Dexetimide Withdrawn Phase 4 21888-98-2 30843
5
Corticosterone Experimental Phase 4 50-22-6 5753
6 Hypoglycemic Agents Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Serotonin Uptake Inhibitors Phase 4
9 Cardiac Glycosides Phase 4
10 Anti-Retroviral Agents Phase 4
11 Anti-HIV Agents Phase 4
12 Glycoside Hydrolase Inhibitors Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Fluorodeoxyglucose F18 Phase 4
15
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
16
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
17
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
18
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
19
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
20
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 4894 5755
21
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
22
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
23
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
24
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
25 Orange Approved Phase 3
26
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
27 Antirheumatic Agents Phase 2, Phase 3
28
Methylprednisolone Acetate Phase 2, Phase 3 584547
29 Immunosuppressive Agents Phase 2, Phase 3
30 Immunologic Factors Phase 2, Phase 3
31 Alkylating Agents Phase 2, Phase 3
32 Antineoplastic Agents, Alkylating Phase 2, Phase 3
33 Antilymphocyte Serum Phase 2, Phase 3
34
D-Leucine Experimental, Investigational, Nutraceutical Phase 3 328-38-1, 61-90-5 439524 6106
35
Galantamine Approved Phase 2 357-70-0, 1953-04-4 9651
36
Tolcapone Approved, Withdrawn Phase 2 134308-13-7 4659569
37
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 581 12035
38
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
39
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
40
Lithium carbonate Approved Phase 2 554-13-2
41
Metformin Approved Phase 2 1115-70-4, 657-24-9 4091
42
Rituximab Approved Phase 1, Phase 2 174722-31-7
43
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
44
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
45
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
46
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
47
Rotigotine Approved Phase 2 99755-59-6, 92206-54-7 57537 59227
48
Zinc cation Approved, Experimental, Investigational Phase 2 7440-66-6, 23713-49-7 32051
49
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
50
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 594 5862

Interventional clinical trials:

(show top 50) (show all 240)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
4 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 Completed NCT03910621 Phase 4 Miglustat
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 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
8 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
9 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
10 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Completed NCT03682185 Phase 3
11 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
12 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
13 A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of AL001 in Individuals at Risk for or With Frontotemporal Dementia Due to Heterozygous Mutations in the Progranulin Gene Recruiting NCT04374136 Phase 3 AL001;Placebo;Open label - AL001
14 Phase 3, Double-blind, Randomized, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of 2000mg/kg of Trappsol®Cyclo™ (Hydroxypropyl-B-cyclodextrin) and Standard of Care Compared to Placebo and Standard of Care in Patients With Niemann-Pick Disease Type C1 (TransportNPC) Recruiting NCT04860960 Phase 3 Hydroxypropyl-beta-cyclodextrin;Placebo
15 Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study Recruiting NCT05163288 Phase 3 N-Acetyl-L-Leucine
16 Imaging Tau Accumulation in FTLD and Atypical Alzheimer's Disease Using the PET Ligand PI-2620 Recruiting NCT05456503 Phase 3 FPI-2620
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 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 Parts A/B: Adrabetadex
19 An Open-Label, Extension Study of the Effects of LMTM in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 LMTM
20 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 Terminated NCT03879655 Phase 2, Phase 3 VTS-270
21 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 Terminated NCT04958642 Phase 2, Phase 3 Adrabetadex
22 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
23 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
24 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
25 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
26 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
27 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
28 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
29 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
30 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
31 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
32 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 Completed NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
33 A Phase 1b Open-Label, Multicenter, Dose-Escalation Study to Assess the Safety, Tolerability, and Pharmacodynamic Effects of a Single Dose of PBFT02 Delivered Into the Cisterna Magna of Adult Subjects With Frontotemporal Dementia and Mutations in the Progranulin Gene Recruiting NCT04747431 Phase 1, Phase 2 PBFT02
34 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
35 A Multicenter, Randomized, Double-blind, Placebo-controlled, Phase 1b/2a Study of WVE-004 Administered Intrathecally to Patients With C9orf72-associated Amyotrophic Lateral Sclerosis (ALS) or Frontotemporal Dementia (FTD) Recruiting NCT04931862 Phase 1, Phase 2 WVE-004;Placebo
36 A Phase 1/2, Multicenter, Randomized, Placebo-Controlled, Double Blind Single Dose and Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL593 in Healthy Participants and Participants With Frontotemporal Dementia Followed by an Open-Label Extension Recruiting NCT05262023 Phase 1, Phase 2 DNL593;Placebo
37 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
38 A Phase 2a Study of TPN-101 in Patients With Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia (FTD) Associated With Hexanucleotide Repeat Expansion in the C9orf72 Gene (C9ORF72 ALS/FTD) Recruiting NCT04993755 Phase 2 TPN-101, 400 mg/day;Placebo
39 A Single-Center, Open Label Study to Assess the Safety and Tolerability of Metformin in Subjects With C9orf72 Amyotrophic Lateral Sclerosis Over 24 Weeks of Treatment Recruiting NCT04220021 Phase 2 Metformin
40 A Phase 1/2 Ascending Dose Study to Evaluate the Safety and Effects on Progranulin Levels of PR006A in Patients With Fronto-Temporal Dementia With Progranulin Mutations (FTD-GRN) Recruiting NCT04408625 Phase 1, Phase 2 Methylprednisolone;Sirolimus;Prednisone;Rituximab
41 The Influence of Vascular Burden, Amyloid Plaque and Tau Protein in Patients With Vascular Cognitive Impairment and Dementia With Tauopathy Recruiting NCT04309253 Phase 2 PMPBB3;AV45
42 Remotely Supervised Transcranial Direct Current Stimulation (tDCS) for Primary Progressive Aphasia (PPA) Recruiting NCT05615922 Phase 2
43 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Recruiting NCT04046991 Phase 2
44 Dopaminergic Therapy for Frontotemporal Dementia Patients: an Interventional, Multi-site, Randomized, Double-blind, Placebo-controlled Study on the Efficacy and Safety of RTG Treatment in Patients With Behavioral FTD Active, not recruiting NCT04937452 Phase 2 Rotigotine 4Mg/24Hrs Patch;Rotigotine 6Mg/24Hrs Patch;Placebo
45 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 Active, not recruiting NCT03987295 Phase 2 AL001
46 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Active, not recruiting NCT03759639 Phase 2 IB1001
47 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Active, not recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
48 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
49 Phase II Clinical Trial of Transcranial Direct Current Stimulation in the Treatment of Primary Progressive Aphasia Not yet recruiting NCT05386394 Phase 2
50 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Suspended NCT04115384 Phase 2 Novolin-R insulin

Search NIH Clinical Center for Frontotemporal Dementia

Cochrane evidence based reviews: pallidopontonigral degeneration

Genetic Tests for Frontotemporal Dementia

Genetic tests related to Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia 28 MAPT PSEN1
2 Dementia, Frontotemporal, with or Without Parkinsonism 28

Anatomical Context for Frontotemporal Dementia

Organs/tissues related to Frontotemporal Dementia:

MalaCards : Brain, Amygdala, Bone Marrow, Temporal Lobe, Cortex, Eye, Bone

Publications for Frontotemporal Dementia

Articles related to Frontotemporal Dementia:

(show top 50) (show all 11361)
# Title Authors PMID Year
1
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 53 62 57 5
11094121 2000
2
Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease. 62 57 5
17923640 2007
3
Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation. 62 57 5
11971082 2002
4
The genetic and pathological classification of familial frontotemporal dementia. 62 57 5
11708988 2001
5
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 62 57 5
10412802 1999
6
A distinct familial presenile dementia with a novel missense mutation in the tau gene. 62 57 5
10208578 1999
7
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 62 57 5
9789048 1998
8
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 62 57 5
9641683 1998
9
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. 62 57 5
7977375 1994
10
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. 57 5
19786698 2009
11
Tau gene mutation in familial progressive subcortical gliosis. 57 5
10202939 1999
12
A family with autosomal dominant, non-Alzheimer's presenile dementia. 57 5
9088499 1997
13
Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies: a clinical and pathological study. 57 5
8926492 1996
14
Familial progressive subcortical gliosis. 57 5
7936288 1994
15
Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. 57 5
1416801 1992
16
Association between tau H2 haplotype and age at onset in frontotemporal dementia. 53 62 57
16157749 2005
17
The role of tau (MAPT) in frontotemporal dementia and related tauopathies. 53 62 5
15365985 2004
18
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. 53 62 5
14755449 2004
19
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 53 62 5
12509859 2003
20
Frontotemporal lobar degeneration--tau as a pied piper? 53 62 57
12481984 2002
21
Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes. 53 62 57
11939896 2002
22
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 53 62 5
11912108 2002
23
Neurodegenerative tauopathies. 53 62 57
11520930 2001
24
Pick's disease is associated with mutations in the tau gene. 53 62 5
11117542 2000
25
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. 53 62 5
11117541 2000
26
Untangling tau-related dementia. 53 62 5
10767321 2000
27
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. 53 62 5
10553987 1999
28
Phenotypic variation in hereditary frontotemporal dementia with tau mutations. 53 62 5
10514099 1999
29
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 53 62 5
10374757 1999
30
Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. 53 62 57
8789453 1996
31
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol. 62 5
33203472 2020
32
Pathogenic Tau Impairs Axon Initial Segment Plasticity and Excitability Homeostasis. 62 5
31542321 2019
33
Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport. 62 5
29729423 2018
34
Frontotemporal lobar degeneration due to P301L tau mutation showing apathy and severe frontal atrophy but lacking other behavioral changes: A case report and literature review. 62 5
29105852 2018
35
Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies. 62 5
29253099 2018
36
Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain. 62 5
28934750 2017
37
Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population. 62 5
27439681 2016
38
[18F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation. 62 5
28097206 2016
39
Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model. 62 5
26519432 2016
40
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations. 62 5
26220942 2015
41
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT. 62 5
26136155 2015
42
Disease-related mutations among Caribbean Hispanics with familial dementia. 62 5
25333068 2014
43
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. 62 5
23727082 2014
44
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features. 62 5
24018212 2014
45
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration. 62 5
23463024 2013
46
Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease. 62 5
23582655 2013
47
Neurodegenerative disorder FTDP-17-related tau intron 10 +16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice. 62 5
23680655 2013
48
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 62 5
23338682 2013
49
Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome. 62 5
23047372 2013
50
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 62 5
22503161 2012

Variations for Frontotemporal Dementia

ClinVar genetic disease variations for Frontotemporal Dementia:

5 (show top 50) (show all 364)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAPT NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) SNV Pathogenic
14246 rs63750376 GRCh37: 17:44074023-44074023
GRCh38: 17:45996657-45996657
2 MAPT NM_001377265.1(MAPT):c.2091+14C>T SNV Pathogenic
14248 rs63750972 GRCh37: 17:44087782-44087782
GRCh38: 17:46010416-46010416
3 MAPT NM_001377265.1(MAPT):c.2091+13A>G SNV Pathogenic
98221 rs63750308 GRCh37: 17:44087781-44087781
GRCh38: 17:46010415-46010415
4 MAPT NM_001377265.1(MAPT):c.2091+1G>A SNV Pathogenic
14251 rs1568327531 GRCh37: 17:44087769-44087769
GRCh38: 17:46010403-46010403
5 MAPT NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) SNV Pathogenic
14254 rs63751165 GRCh37: 17:44087767-44087767
GRCh38: 17:46010401-46010401
6 MAPT NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) SNV Pathogenic
14256 rs63751438 GRCh37: 17:44087754-44087754
GRCh38: 17:46010388-46010388
7 MAPT NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) SNV Pathogenic
14257 rs63750912 GRCh37: 17:44087741-44087741
GRCh38: 17:46010375-46010375
8 MAPT NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) SNV Pathogenic
14258 rs63750711 GRCh37: 17:44096011-44096011
GRCh38: 17:46018645-46018645
9 MAPT NM_001377265.1(MAPT):c.2091+11T>C SNV Pathogenic
98219 rs63751394 GRCh37: 17:44087779-44087779
GRCh38: 17:46010413-46010413
10 MAPT NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) SNV Pathogenic
14266 rs63750349 GRCh37: 17:44074004-44074004
GRCh38: 17:45996638-45996638
11 MAPT NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met) SNV Pathogenic
14268 rs63750092 GRCh37: 17:44091643-44091643
GRCh38: 17:46014277-46014277
12 GRN NM_002087.4(GRN):c.462+1G>C SNV Pathogenic
203455 rs794729669 GRCh37: 17:42427709-42427709
GRCh38: 17:44350341-44350341
13 GRN NM_002087.4(GRN):c.882T>G (p.Tyr294Ter) SNV Pathogenic
203456 rs794729670 GRCh37: 17:42428777-42428777
GRCh38: 17:44351409-44351409
14 GRN NM_002087.4(GRN):c.1212C>A (p.Cys404Ter) SNV Pathogenic
203457 rs193026789 GRCh37: 17:42429415-42429415
GRCh38: 17:44352047-44352047
15 GRN NM_002087.4(GRN):c.1246dup (p.Cys416fs) DUP Pathogenic
203458 rs794729671 GRCh37: 17:42429448-42429449
GRCh38: 17:44352080-44352081
16 GRN NM_002087.4(GRN):c.87dup (p.Cys30fs) DUP Pathogenic
203459 rs794729672 GRCh37: 17:42426617-42426618
GRCh38: 17:44349249-44349250
17 GRN NM_002087.4(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) INSERT Pathogenic
599609 rs1567886445 GRCh37: 17:42427869-42427870
GRCh38: 17:44350501-44350502
18 GRN NM_002087.4(GRN):c.759_760dup (p.Asp254fs) MICROSAT Pathogenic
599610 rs63751035 GRCh37: 17:42428448-42428449
GRCh38: 17:44351080-44351081
19 GRN NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer) MICROSAT Pathogenic
98152 rs63751035 GRCh37: 17:42428449-42428450
GRCh38: 17:44351081-44351082
20 GRN NM_002087.4(GRN):c.1446C>A (p.Cys482Ter) SNV Pathogenic
599613 rs1567888461 GRCh37: 17:42429741-42429741
GRCh38: 17:44352373-44352373
21 GRN NM_002087.4(GRN):c.388_391del (p.Gln130fs) DEL Pathogenic
16011 rs63749801 GRCh37: 17:42427631-42427634
GRCh38: 17:44350263-44350266
22 GRN NM_002087.4(GRN):c.560del (p.Leu187fs) DEL Pathogenic
599615 rs1567886478 GRCh37: 17:42427907-42427907
GRCh38: 17:44350539-44350539
23 GRN NM_002087.4(GRN):c.385dup (p.Ser129fs) DUP Pathogenic
599617 rs1567886206 GRCh37: 17:42427630-42427631
GRCh38: 17:44350262-44350263
24 GRN NM_002087.4(GRN):c.232dup (p.Ser78fs) DUP Pathogenic
599618 rs1567885658 GRCh37: 17:42426886-42426887
GRCh38: 17:44349518-44349519
25 MAPT NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) SNV Pathogenic
14262 rs63750635 GRCh37: 17:44091652-44091652
GRCh38: 17:46014286-46014286
26 TREM2 NM_018965.4(TREM2):c.594G>A (p.Trp198Ter) SNV Pathogenic
1178350 GRCh37: 6:41126693-41126693
GRCh38: 6:41158955-41158955
27 PSEN1 NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) SNV Pathogenic
98049 rs63750311 GRCh37: 14:73659355-73659355
GRCh38: 14:73192647-73192647
28 PSEN1 NM_000021.4(PSEN1):c.640C>A (p.His214Asn) SNV Pathogenic
1374628 GRCh37: 14:73659443-73659443
GRCh38: 14:73192735-73192735
29 PSEN1 NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp) SNV Pathogenic
1450587 GRCh37: 14:73678650-73678650
GRCh38: 14:73211942-73211942
30 PSEN1 NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg) SNV Pathogenic
982376 rs1897874329 GRCh37: 14:73637680-73637680
GRCh38: 14:73170972-73170972
31 MAPT NM_001377265.1(MAPT):c.2091+16C>T SNV Pathogenic
Pathogenic
98222 rs63751011 GRCh37: 17:44087784-44087784
GRCh38: 17:46010418-46010418
32 PSEN1 NM_000021.4(PSEN1):c.488A>G (p.His163Arg) SNV Pathogenic
18124 rs63750590 GRCh37: 14:73653568-73653568
GRCh38: 14:73186860-73186860
33 PSEN1 NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) SNV Pathogenic
18148 rs63750886 GRCh37: 14:73664780-73664780
GRCh38: 14:73198072-73198072
34 MAPT NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) SNV Pathogenic
14252 rs63750570 GRCh37: 17:44095995-44095995
GRCh38: 17:46018629-46018629
35 MAPT NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) SNV Pathogenic
Pathogenic
14253 rs63750756 GRCh37: 17:44087690-44087690
GRCh38: 17:46010324-46010324
36 PSEN1 NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) SNV Pathogenic
18125 rs63750526 GRCh37: 14:73659540-73659540
GRCh38: 14:73192832-73192832
37 PSEN1 NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) SNV Pathogenic
98053 rs63750053 GRCh37: 14:73659429-73659429
GRCh38: 14:73192721-73192721
38 PSEN1 NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) SNV Pathogenic
18127 rs661 GRCh37: 14:73683933-73683933
GRCh38: 14:73217225-73217225
39 PSEN1 NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) SNV Pathogenic
98015 rs63750450 GRCh37: 14:73640279-73640279
GRCh38: 14:73173571-73173571
40 PSEN1 NM_000021.4(PSEN1):c.869-2A>T SNV Pathogenic
579680 rs1566650594 GRCh37: 14:73673092-73673092
GRCh38: 14:73206384-73206384
41 PSEN1 NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) SNV Pathogenic
659639 rs63750730 GRCh37: 14:73640282-73640282
GRCh38: 14:73173574-73173574
42 PSEN1 NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) SNV Pathogenic
98022 rs63751278 GRCh37: 14:73640339-73640339
GRCh38: 14:73173631-73173631
43 PSEN1 NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) SNV Pathogenic
98080 rs63750301 GRCh37: 14:73664760-73664760
GRCh38: 14:73198052-73198052
44 PSEN1 NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) SNV Pathogenic
98026 rs63750004 GRCh37: 14:73640363-73640363
GRCh38: 14:73173655-73173655
45 PSEN1 NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) SNV Pathogenic
98029 rs63750391 GRCh37: 14:73640373-73640373
GRCh38: 14:73173665-73173665
46 MAPT NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) SNV Pathogenic
14255 rs63750512 GRCh37: 17:44101376-44101376
GRCh38: 17:46024010-46024010
47 PSEN1 NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys) SNV Pathogenic
1458372 GRCh37: 14:73664807-73664807
GRCh38: 14:73198099-73198099
48 PSEN1 NC_000014.8:g.(?_73673074)_(73673200_?)del DEL Pathogenic
1459049 GRCh37: 14:73673074-73673200
GRCh38:
49 PSEN1 NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe) SNV Pathogenic
1453682 GRCh37: 14:73659553-73659553
GRCh38: 14:73192845-73192845
50 PSEN1 NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) SNV Pathogenic
845851 rs63751316 GRCh37: 14:73685847-73685847
GRCh38: 14:73219139-73219139

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

73 (show all 13)
# 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 MAPT p.Gly590Arg VAR_084361 rs1247408229
13 PSEN1 p.Leu113Pro VAR_016215 rs63751399

Copy number variations for Frontotemporal Dementia from CNVD:

6
# CNVD ID Chromosome 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 IPO5 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 Frontotemporal Dementia

Search GEO for disease gene expression data for Frontotemporal Dementia.

Pathways for Frontotemporal Dementia

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

# Super pathways Score Top Affiliating Genes
1 12.11 VCP MAPT DCTN1 CHMP2B
2 11.63 TREM2 TARDBP PSEN1 OPTN MAPT DCTN1
3 11.09 PSEN1 MAPT ERBB4
4 10.79 PSEN1 MAPT ERBB4
5 10.26 PSEN1 MAPT

GO Terms for Frontotemporal Dementia

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

# Name GO ID Score Top Affiliating Genes
1 growth cone GO:0030426 9.7 SETX PSEN1 MAPT C9orf72
2 endosome GO:0005768 9.36 TMEM106B SQSTM1 PSEN1 OPTN GRN CHMP2B
3 main axon GO:0044304 9.26 MAPT C9orf72

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

# Name GO ID Score Top Affiliating Genes
1 amyloid fibril formation GO:1990000 9.8 TARDBP MAPT FUS
2 neuron projection maintenance GO:1990535 9.76 PSEN1 DCTN1
3 regulation of resting membrane potential GO:0060075 9.73 TREM2 PSEN1
4 microglial cell activation involved in immune response GO:0002282 9.71 TREM2 GRN
5 autophagy GO:0006914 9.7 VCP SQSTM1 PSEN1 OPTN CHMP2B C9orf72
6 astrocyte activation involved in immune response GO:0002265 9.67 PSEN1 GRN
7 astrocyte activation GO:0048143 9.63 MAPT PSEN1 TREM2
8 axonal transport GO:0098930 9.43 MAPT DCTN1
9 neuron cellular homeostasis GO:0070050 9.23 TMEM106B PSEN1 DCTN1 CHMP2B

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

# Name GO ID Score Top Affiliating Genes
1 lipoprotein particle binding GO:0071813 9.26 TREM2 MAPT
2 molecular condensate scaffold activity GO:0140693 9.1 TARDBP HNRNPA2B1 FUS

Sources for Frontotemporal Dementia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....