UP-FTD
MCID: FRN051
MIFTS: 54

Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related (UP-FTD)

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

Aliases & Classifications for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

MalaCards integrated aliases for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

Name: Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 56 71
Primary Progressive Aphasia 74 52 53 58 29 6 17 71
Frontotemporal Dementia, Ubiquitin-Positive 56 52 29 6
Aphasia, Primary Progressive 56 52 13
Dementia, Hereditary Dysphasic Disinhibition 56 52
Hddd 56 52
Ppa 52 58
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, Susceptibility to 6
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions; Ftldu 56
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 56
Grn-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Tau-Negative Frontotemporal Dementia Linked to Chromosome 17 73
Frontotemporal Dementia with Tdp43 Inclusions, Grn-Related 56
Dementia, Hereditary Dysphasic Disinhibition; Hddd 56
Frontotemporal Dementia, Ubiquitin-Positive; Ftdu 56
Aphasia, Primary Progressive, Susceptibility to 6
Ubiquitin-Positive Frontotemporal Dementia 73
Primary Progressive Aphasia Syndrome 52
Aphasia Primary Progressive 54
Frontotemporal Dementia 71
Ftld-Tdp, Grn-Related 56
Mesulam Syndrome 58
Up-Ftd 73
Ftldu 56
Ftdu 56

Characteristics:

Orphanet epidemiological data:

58
primary progressive aphasia
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset about 62 years (45-79 years)
most common subtype of frontotemporal dementia
haploinsufficiency of grn


HPO:

31
frontotemporal lobar degeneration with tdp43 inclusions, grn-related:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060672
OMIM 56 607485
ICD10 32 G31.0
MESH via Orphanet 44 D018888
ICD10 via Orphanet 33 G31.0
UMLS via Orphanet 72 C0282513
Orphanet 58 ORPHA95432
UMLS 71 C0282513 C0338451 C1843792

Summaries for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

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.

MalaCards based summary : Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related, also known as primary progressive aphasia, is related to supranuclear palsy, progressive, 1 and apraxia, and has symptoms including agitation, restlessness and personality changes. An important gene associated with Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related is GRN (Granulin Precursor), and among its related pathways/superpathways is Neuroscience. The drugs Citalopram and Corticosterone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are dysphasia and hallucinations

Disease Ontology : 12 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.

NIH Rare Diseases : 52 Primary progressive aphasia (PPA) affects a person's ability to use language to communicate. This includes difficulty making or understanding speech (aphasia ). PPA is a specific type of a more general disease called frontotemporal dementia . PPA can be classified into three distinct types which include: Progressive non-fluent aphasia (PNFA) Semantic dementia (SD) Logopenic progressive aphasia (LPA) PPA is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. In some cases, this loss of tissue is caused by genetic changes ( mutations or pathogenic variants) in the GRN gene . In these cases, the disease is inherited in an autosomal dominant manner. Diagnosis of PPA is suspected when a doctor observes signs and symptoms such as progressive loss of language abilities. Imaging of the brain with a CT scan or MRI can confirm the diagnosis. Although there is no cure for the disease, treatment options include speech therapy and medication to manage behavioral changes.

OMIM : 56 FTLD-TDP is clinically characterized by frontotemporal dementia (see FTD; 600274), which shows variable phenotypic expression but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; 104300) or Parkinson disease (PD; 168600), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). (607485)

UniProtKB/Swiss-Prot : 73 Ubiquitin-positive frontotemporal dementia: Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease.

Wikipedia : 74 Primary progressive aphasia (PPA) is a type of neurological syndrome in which language capabilities... more...

Related Diseases for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Diseases related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 31.4 RPS27A MAPT GRN
2 apraxia 30.6 MAPT GRN
3 corticobasal degeneration 30.5 RPS27A MAPT
4 aphasia 30.5 MAPT GRN
5 progressive non-fluent aphasia 30.0 MAPT GRN
6 dysgraphia 30.0 MAPT GRN
7 frontotemporal dementia 30.0 RPS27A MAPT GRN
8 speech and communication disorders 30.0 MAPT GRN
9 speech disorder 29.9 MAPT GRN
10 nominal aphasia 29.8 MAPT GRN
11 ideomotor apraxia 29.7 MAPT GRN
12 mutism 29.7 MAPT GRN
13 agraphia 29.7 MAPT GRN
14 prosopagnosia 29.7 MAPT GRN
15 motor neuron disease 29.6 RPS27A MAPT GRN
16 pick disease of brain 29.5 RPS27A MAPT GRN
17 associative agnosia 29.4 MAPT GRN
18 alexia 29.3 MAPT GRN
19 multiple system atrophy 1 29.3 RPS27A MAPT
20 echolalia 29.3 MAPT GRN
21 dementia 29.2 RPS27A MAPT GRN
22 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 29.2 MAPT GRN
23 semantic dementia 29.2 RPS27A MAPT GRN
24 amyotrophic lateral sclerosis 1 28.9 RPS27A MAPT GRN
25 alzheimer disease 28.6 RPS27A MAPT GRN
26 grn-related frontotemporal dementia 12.0
27 peripapillary atrophy, beta type 11.2
28 dyslexia 10.5
29 frontotemporal dementia, chromosome 3-linked 10.5
30 proteasome-associated autoinflammatory syndrome 1 10.3
31 dysentery 10.3
32 primary progressive apraxia of speech 10.3
33 cerebral atrophy 10.3
34 specific language disorder 10.3
35 agnosia 10.2
36 phenylketonuria 10.2
37 diarrhea 10.2
38 cerebrovascular disease 10.2
39 creutzfeldt-jakob disease 10.1
40 hand skill, relative 10.1
41 stroke, ischemic 10.1
42 stuttering 10.1
43 lateral sclerosis 10.1
44 learning disability 10.1
45 cardiac arrhythmia 10.0
46 polykaryocytosis inducer 10.0
47 retinal detachment 10.0
48 autism 10.0
49 leukemia, acute myeloid 10.0
50 hypertensive retinopathy 10.0

Graphical network of the top 20 diseases related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:



Diseases related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related

Symptoms & Phenotypes for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Human phenotypes related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 dysphasia 31 HP:0002357
2 hallucinations 31 HP:0000738
3 cerebral cortical atrophy 31 HP:0002120
4 memory impairment 31 HP:0002354
5 aphasia 31 HP:0002381
6 apraxia 31 HP:0002186
7 agitation 31 HP:0000713
8 polyphagia 31 HP:0002591
9 hypersexuality 31 HP:0030214
10 progressive language deterioration 31 HP:0007064
11 parkinsonism 31 HP:0001300
12 neurofibrillary tangles 31 HP:0002185
13 disinhibition 31 HP:0000734
14 neuronal loss in central nervous system 31 HP:0002529
15 gliosis 31 HP:0002171
16 apathy 31 HP:0000741
17 personality changes 31 HP:0000751
18 repetitive compulsive behavior 31 HP:0008762
19 lewy bodies 31 HP:0100315
20 frontotemporal dementia 31 HP:0002145
21 dilation of lateral ventricles 31 HP:0006956
22 mutism 31 HP:0002300
23 perseveration 31 HP:0030223
24 hyperorality 31 HP:0000710

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysphasia
apraxia
progressive language deterioration
frontotemporal dementia
mutism
more
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
agitation
hypersexuality
restlessness
disinhibition
more

Clinical features from OMIM:

607485

UMLS symptoms related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:


agitation, restlessness, personality changes, memory loss

Drugs & Therapeutics for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Drugs for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Corticosterone Experimental Phase 4 50-22-6 5753
3 Psychotropic Drugs Phase 4
4 Antidepressive Agents Phase 4
5 Serotonin Uptake Inhibitors Phase 4
6 Serotonin Agents Phase 4
7 Fluorodeoxyglucose F18 Phase 4
8 Anti-Inflammatory Agents Phase 4
9
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
10
tannic acid Approved Phase 3 1401-55-4
11
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
12
Miglustat Approved Phase 3 72599-27-0 51634
13
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
14
Methylene blue Approved, Investigational Phase 3 61-73-4
15
1-Deoxynojirimycin Investigational Phase 3 19130-96-2 1374
16 Anti-Retroviral Agents Phase 3
17 Cardiac Glycosides Phase 3
18 Glycoside Hydrolase Inhibitors Phase 3
19 Anti-HIV Agents Phase 3
20 Tranquilizing Agents Phase 3
21 Central Nervous System Depressants Phase 3
22 Antipsychotic Agents Phase 3
23 Serotonin 5-HT2 Receptor Antagonists Phase 3
24 Serotonin Antagonists Phase 3
25
Galantamine Approved Phase 2 357-70-0 9651
26
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
27
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
28
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
29
Memantine Approved, Investigational Phase 2 19982-08-2 4054
30
Zinc Approved, Investigational Phase 2 7440-66-6 32051
31
Lithium carbonate Approved Phase 2 554-13-2
32
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
33
Busulfan Approved, Investigational Phase 2 55-98-1 2478
34
alemtuzumab Approved, Investigational Phase 2 216503-57-0
35
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
36
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
37
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
38
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
39 Histone Deacetylase Inhibitors Phase 1, Phase 2
40 Nootropic Agents Phase 2
41 Cholinergic Agents Phase 2
42 Autonomic Agents Phase 2
43 Cholinesterase Inhibitors Phase 2
44 Sympathomimetics Phase 2
45 Catechol O-Methyltransferase Inhibitors Phase 2
46 Catechol Phase 2
47 Protective Agents Phase 2
48 N-monoacetylcystine Phase 1, Phase 2
49 Free Radical Scavengers Phase 1, Phase 2
50 Antioxidants Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 176)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
4 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
5 A 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
6 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
7 A Double-Blind, Placebo-Controlled, Randomized, Parallel Group, 12-Month Safety and Efficacy Trial of TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
8 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
9 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
10 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
11 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
12 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
13 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
14 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
15 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
16 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
17 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
18 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
19 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
20 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
21 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
22 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
23 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
24 Direct Current Brain Polarization for Apraxia in Corticobasal Syndrome Completed NCT00273897 Phase 2
25 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
26 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
27 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
28 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
29 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Recruiting NCT03759639 Phase 2 IB1001
30 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
31 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
32 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
33 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)
34 F 18 T807 Tau PET Imaging of Progressive Posterior Cortical Dysfunction Due to Alzheimer Disease Enrolling by invitation NCT02414282 Phase 2 F 18 T807
35 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT04046991 Phase 2
36 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
37 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
38 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
39 18F-AV-1451 PET Imaging in Subjects With Frontotemporal Dementia Completed NCT03040713 Phase 1 18F-AV-1451;18F-AV-45
40 A Phase I Dose Finding Study of Intranasal Oxytocin in Frontotemporal Dementia, Protocol # FTDOXY10EF Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
41 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
42 Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Clinically Diagnosed Tauopathies in Comparison to Healthy Subjects Completed NCT02103894 Phase 1 [18F]T807 ([18F]MNI-777)
43 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
44 Amyloid-related Imaging Abnormalities (Microbleeds) in Atypical AD Completed NCT01723553 Phase 1 C-11 PiB
45 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
46 A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease Completed NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
47 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
48 An Open Label Dose Finding Study of Nimodipine for the Treatment of Progranulin Insufficiency From GRN Gene Mutations Completed NCT01835665 Phase 1 Nimodipine
49 Tau PET Imaging in Atypical Dementias Recruiting NCT03283449 Phase 1 18F-AV-1451
50 A First in Human Phase 1 Study in Healthy Volunteers and in Participants With Frontotemporal Dementia (FTD) With Granulin Mutation Recruiting NCT03636204 Phase 1

Search NIH Clinical Center for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related

Genetic Tests for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Genetic tests related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia, Ubiquitin-Positive 29 GRN
2 Primary Progressive Aphasia 29

Anatomical Context for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

MalaCards organs/tissues related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

40
Brain, Testes, Cortex, Liver, Temporal Lobe, Bone, Myeloid

Publications for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Articles related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

(show top 50) (show all 1216)
# Title Authors PMID Year
1
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. 54 61 56 6
17210807 2007
2
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 61 56 6
18183624 2008
3
Clinicopathologic correlation in PGRN mutations. 61 56 6
17522386 2007
4
Familial primary progressive aphasia. 61 56 6
12794388 2003
5
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 56 6
21482928 2011
6
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. 56 6
20142525 2010
7
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. 56 6
19858458 2009
8
Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation. 56 6
18855025 2009
9
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. 56 6
18723524 2008
10
Distinct genetic forms of frontotemporal dementia. 56 6
18703462 2008
11
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. 56 6
18392865 2008
12
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. 56 6
18413474 2008
13
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. 56 6
17923627 2007
14
Characteristics of frontotemporal dementia patients with a Progranulin mutation. 56 6
16983677 2006
15
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. 56 6
16983685 2006
16
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 56 6
16862115 2006
17
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 56 6
16862116 2006
18
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. 56 6
16495329 2006
19
A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. 56 6
16401619 2006
20
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. 56 6
12476321 2002
21
Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. 56 6
9633693 1998
22
Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. 56 6
9259373 1997
23
Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia. 56 6
9152110 1997
24
Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. 56 6
6497355 1984
25
Asymmetric TDP-43 distribution in primary progressive aphasia with progranulin mutation. 54 61 56
20479359 2010
26
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 61 56
20142524 2010
27
Increased frequency of learning disability in patients with primary progressive aphasia and their first-degree relatives. 61 56
18268195 2008
28
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 61 6
17826340 2007
29
GRN Frontotemporal Dementia 61 6
20301545 2007
30
Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. 61 6
16315279 2005
31
Molecular neuroimaging in primary progressive aphasia with predominant agraphia. 61 52
29569990 2018
32
A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. 56
29056226 2017
33
Group intervention for individuals with primary progressive aphasia and their spouses: Who comes first? 61 52
28412599 2017
34
Primary progressive aphasia: from syndrome to disease. 61 52
22703637 2013
35
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 6
22608501 2012
36
Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. 56
21220649 2011
37
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. 56
21178100 2011
38
Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U. 56
20660618 2010
39
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. 6
20522652 2010
40
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
41
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. 56
20154673 2010
42
FUS: A new actor on the frontotemporal lobar degeneration stage. 56
20124200 2010
43
A novel protective prion protein variant that colocalizes with kuru exposure. 6
19923577 2009
44
The heritability and genetics of frontotemporal lobar degeneration. 56
19884572 2009
45
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. 56
19158106 2009
46
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. 56
18543312 2008
47
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. 6
17984093 2008
48
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. 56
17805587 2007
49
TDP-43 pathologic lesions and clinical phenotype in frontotemporal lobar degeneration with ubiquitin-positive inclusions. 56
17923628 2007
50
Progranulin null mutations in both sporadic and familial frontotemporal dementia. 56
17436289 2007

Variations for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

ClinVar genetic disease variations for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

6 (show top 50) (show all 67) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRN GRN, IVS0DS, G-C, +5SNV Pathogenic 16006
2 GRN NM_002087.3(GRN):c.373C>T (p.Gln125Ter)SNV Pathogenic 16007 rs63750077 17:42427619-42427619 17:44350251-44350251
3 GRN NM_002087.3(GRN):c.2T>C (p.Met1Thr)SNV Pathogenic 16008 rs63751006 17:42426534-42426534 17:44349166-44349166
4 GRN NM_002087.3(GRN):c.3G>A (p.Met1Ile)SNV Pathogenic 16009 rs63750331 17:42426535-42426535 17:44349167-44349167
5 GRN NM_002087.3(GRN):c.93_96dup (p.Asp33fs)duplication Pathogenic 16010 rs606231220 17:42426621-42426622 17:44349253-44349254
6 GRN NM_002087.3(GRN):c.388_391del (p.Gln130fs)deletion Pathogenic 16011 rs63749801 17:42427631-42427634 17:44350263-44350266
7 GRN NM_002087.3(GRN):c.835+1G>ASNV Pathogenic 16012 rs606231221 17:42428532-42428532 17:44351164-44351164
8 GRN NM_002087.3(GRN):c.26C>A (p.Ala9Asp)SNV Pathogenic 16013 rs63751243 17:42426558-42426558 17:44349190-44349190
9 GRN NM_002087.3(GRN):c.1477C>T (p.Arg493Ter)SNV Pathogenic 16014 rs63751294 17:42429772-42429772 17:44352404-44352404
10 GRN GRN, 1-BP DEL, 998Gdeletion Pathogenic 16015
11 GRN GRN, IVS7AS, A-G, -2SNV Pathogenic 16017
12 GRN GRN, IVS6AS, A-G, -2SNV Pathogenic 16019
13 GRN NM_002087.3(GRN):c.813_816del (p.Thr272fs)deletion Pathogenic 16020 rs63749877 17:42428507-42428510 17:44351139-44351142
14 GRN GRN, 1-BP DEL, 102Cdeletion Pathogenic 16021
15 GRN GRN, 1-BP DEL, 154Adeletion Pathogenic 16022
16 GRN GRN, IVS6AS, G-A, -1SNV Pathogenic 29743
17 GRN NM_002087.3(GRN):c.709-2A>GSNV Pathogenic 98150 rs63750548 17:42428403-42428403 17:44351035-44351035
18 GRN NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer)short repeat Pathogenic 98152 rs63751035 17:42428449-42428450 17:44351081-44351082
19 GRN NM_002087.3(GRN):c.836-1G>CSNV Pathogenic 98157 rs63751296 17:42428730-42428730 17:44351362-44351362
20 GRN NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs)duplication Pathogenic 98169 rs63749905 17:42429127-42429128 17:44351759-44351760
21 GRN NM_002087.3(GRN):c.1252C>T (p.Arg418Ter)SNV Pathogenic 98177 rs63751180 17:42429455-42429455 17:44352087-44352087
22 GRN NM_002087.3(GRN):c.264G>A (p.Glu88=)SNV Pathogenic 98130 rs63751166 17:42426919-42426919 17:44349551-44349551
23 GRN NM_002087.3(GRN):c.328C>T (p.Arg110Ter)SNV Pathogenic 98134 rs63750411 17:42427098-42427098 17:44349730-44349730
24 GRN NM_002087.3(GRN):c.1402C>T (p.Gln468Ter)SNV Pathogenic 98184 rs63749908 17:42429605-42429605 17:44352237-44352237
25 GRN NM_002087.3(GRN):c.675_676del (p.Ser226fs)deletion Pathogenic 98246 rs63751085 17:42428135-42428136 17:44350767-44350768
26 GRN NM_002087.3(GRN):c.907del (p.Ala303fs)deletion Pathogenic 437406 rs1555611256 17:42428798-42428798 17:44351430-44351430
27 GRN NM_002087.3(GRN):c.1414-2A>GSNV Pathogenic 447471 rs1555611412 17:42429707-42429707 17:44352339-44352339
28 GRN NM_002087.3(GRN):c.991C>T (p.Gln331Ter)SNV Pathogenic 569790 rs1567887496 17:42428975-42428975 17:44351607-44351607
29 GRN NM_002087.3(GRN):c.768_769dup (p.Gln257fs)duplication Pathogenic 803427 17:42428463-42428464 17:44351095-44351096
30 GRN NM_002087.3(GRN):c.146G>A (p.Trp49Ter)SNV Pathogenic 807610 17:42426801-42426801 17:44349433-44349433
31 GRN NM_002087.3(GRN):c.349+1G>CSNV Pathogenic 807611 17:42427120-42427120 17:44349752-44349752
32 GRN NM_002087.3(GRN):c.424dup (p.Met142fs)duplication Pathogenic 807612 17:42427669-42427670 17:44350301-44350302
33 GRN NM_002087.3(GRN):c.709-4_713deldeletion Pathogenic 807613 17:42428397-42428405 17:44351029-44351037
34 GRN NM_002087.3(GRN):c.918C>A (p.Cys306Ter)SNV Pathogenic 807426 17:42428813-42428813 17:44351445-44351445
35 GRN NM_002087.3(GRN):c.80dup (p.Val28fs)duplication Pathogenic 540277 rs1392550887 17:42426609-42426610 17:44349241-44349242
36 GRN NM_002087.3(GRN):c.708+1G>ASNV Pathogenic/Likely pathogenic 203460 rs63749817 17:42428169-42428169 17:44350801-44350801
37 GRN NM_002087.3(GRN):c.933+1G>ASNV Likely pathogenic 98163 rs63750707 17:42428829-42428829 17:44351461-44351461
38 GRN NM_002087.3(GRN):c.970G>A (p.Ala324Thr)SNV Conflicting interpretations of pathogenicity 98165 rs63750541 17:42428954-42428954 17:44351586-44351586
39 GRN NM_002087.3(GRN):c.1253G>A (p.Arg418Gln)SNV Conflicting interpretations of pathogenicity 98178 rs63751100 17:42429456-42429456 17:44352088-44352088
40 GRN NM_002087.3(GRN):c.1297C>T (p.Arg433Trp)SNV Conflicting interpretations of pathogenicity 98180 rs63750412 17:42429500-42429500 17:44352132-44352132
41 GRN NM_002087.3(GRN):c.708+6_708+9delshort repeat Conflicting interpretations of pathogenicity 586221 rs778599933 17:42428169-42428172 17:44350801-44350804
42 GRN NM_002087.3(GRN):c.1736G>A (p.Arg579His)SNV Uncertain significance 589817 rs373138049 17:42430120-42430120 17:44352752-44352752
43 GRN NM_002087.3(GRN):c.803C>T (p.Thr268Met)SNV Uncertain significance 589992 rs202006119 17:42428499-42428499 17:44351131-44351131
44 GRN NM_002087.3(GRN):c.1083_1084GA[2] (p.Asp363fs)short repeat Uncertain significance 631772 rs1567887576 17:42429066-42429067 17:44351698-44351699
45 GRN NM_002087.3(GRN):c.8C>G (p.Thr3Ser)SNV Uncertain significance 655044 17:42426540-42426540 17:44349172-44349172
46 GRN NM_002087.3(GRN):c.229G>A (p.Val77Ile)SNV Uncertain significance 651116 17:42426884-42426884 17:44349516-44349516
47 GRN NM_002087.3(GRN):c.250T>C (p.Cys84Arg)SNV Uncertain significance 645886 17:42426905-42426905 17:44349537-44349537
48 GRN NM_002087.3(GRN):c.268G>A (p.Val90Met)SNV Uncertain significance 664301 17:42427038-42427038 17:44349670-44349670
49 GRN NM_002087.3(GRN):c.442G>A (p.Gly148Arg)SNV Uncertain significance 645598 17:42427688-42427688 17:44350320-44350320
50 GRN NM_002087.3(GRN):c.1669C>T (p.His557Tyr)SNV Uncertain significance 641757 17:42430053-42430053 17:44352685-44352685

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

73
# Symbol AA change Variation ID SNP ID
1 GRN p.Ala9Asp VAR_044451 rs63751243

Expression for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Search GEO for disease gene expression data for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related.

Pathways for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Pathways related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 RPS27A MAPT

GO Terms for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Molecular functions related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.13 RPS27A MAPT GRN
2 chaperone binding GO:0051087 8.62 MAPT GRN

Sources for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

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