MCID: FRN051
MIFTS: 52

Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal 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 57 73
Primary Progressive Aphasia 76 53 54 29 6 73
Frontotemporal Dementia, Ubiquitin-Positive 57 53 29 6
Aphasia, Primary Progressive 57 53 13
Dementia, Hereditary Dysphasic Disinhibition 57 53
Hddd 57 53
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, Susceptibility to 6
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions; Ftldu 57
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 57
Grn-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Tau-Negative Frontotemporal Dementia Linked to Chromosome 17 75
Frontotemporal Dementia with Tdp43 Inclusions, Grn-Related 57
Dementia, Hereditary Dysphasic Disinhibition; Hddd 57
Frontotemporal Dementia, Ubiquitin-Positive; Ftdu 57
Aphasia, Primary Progressive, Susceptibility to 6
Ubiquitin-Positive Frontotemporal Dementia 75
Primary Progressive Aphasia Syndrome 53
Aphasia Primary Progressive 55
Frontotemporal Dementia 73
Ftld-Tdp, Grn-Related 57
Up-Ftd 75
Ftldu 57
Ftdu 57
Ppa 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
frontotemporal lobar degeneration with tdp43 inclusions, grn-related:
Inheritance autosomal dominant inheritance


Classifications:



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

NINDS : 54 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 semantic dementia and progressive non-fluent aphasia, and has symptoms including personality changes, agitation and memory loss. 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 Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver, and related phenotypes are hyperorality and agitation

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 : 53 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 : 57 Clinically, FTLD-TDP is a type of 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 : 75 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 : 76 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 all 29)
# Related Disease Score Top Affiliating Genes
1 semantic dementia 31.6 GRN MAPT RPS27A
2 progressive non-fluent aphasia 31.1 GRN MAPT
3 frontotemporal dementia 31.0 GRN MAPT RPS27A
4 pick disease of brain 30.7 GRN MAPT RPS27A
5 supranuclear palsy, progressive, 1 30.5 GRN MAPT RPS27A
6 aphasia 30.0 GRN MAPT
7 logopenic progressive aphasia 12.0
8 grn-related frontotemporal dementia 11.7
9 leukoencephalopathy, hereditary diffuse, with spheroids 9.7 MAPT RPS27A
10 neuronal intranuclear inclusion disease 9.7 MAPT RPS27A
11 corticobasal degeneration 9.7 MAPT RPS27A
12 behavioral variant of frontotemporal dementia 9.6 GRN MAPT
13 echolalia 9.6 GRN MAPT
14 agraphia 9.6 GRN MAPT
15 inclusion body myositis 9.6 MAPT RPS27A
16 ideomotor apraxia 9.6 GRN MAPT
17 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 MAPT RPS27A
18 nominal aphasia 9.5 GRN MAPT
19 basal ganglia disease 9.5 GRN MAPT
20 apraxia 9.5 GRN MAPT
21 speech and communication disorders 9.4 GRN MAPT
22 disease of mental health 9.4 GRN MAPT
23 central nervous system disease 9.3 GRN MAPT
24 nervous system disease 9.2 GRN MAPT
25 dementia 9.1 GRN MAPT
26 dementia, lewy body 9.0 GRN MAPT RPS27A
27 motor neuron disease 9.0 GRN MAPT RPS27A
28 parkinson disease, late-onset 9.0 MAPT RPS27A
29 amyotrophic lateral sclerosis 1 9.0 GRN MAPT RPS27A

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,...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysphasia
apraxia
frontotemporal dementia
mutism
perseveration
more
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
agitation
hypersexuality
restlessness
disinhibition
more

Clinical features from OMIM:

607485

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hyperorality 32 HP:0000710
2 agitation 32 HP:0000713
3 disinhibition 32 HP:0000734
4 hallucinations 32 HP:0000738
5 apathy 32 HP:0000741
6 personality changes 32 HP:0000751
7 parkinsonism 32 HP:0001300
8 cerebral cortical atrophy 32 HP:0002120
9 frontotemporal dementia 32 HP:0002145
10 gliosis 32 HP:0002171
11 apraxia 32 HP:0002186
12 mutism 32 HP:0002300
13 memory impairment 32 HP:0002354
14 dysphasia 32 HP:0002357
15 aphasia 32 HP:0002381
16 neuronal loss in central nervous system 32 HP:0002529
17 polyphagia 32 HP:0002591
18 dilation of lateral ventricles 32 HP:0006956
19 progressive language deterioration 32 HP:0007064
20 repetitive compulsive behavior 32 HP:0008762
21 hypersexuality 32 HP:0030214
22 perseveration 32 HP:0030223

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


personality changes, agitation, memory loss, restlessness

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 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
3
Citalopram Approved Phase 4 59729-33-8 2771
4
Iodine Approved, Investigational Phase 4 7553-56-2 807
5
Corticosterone Experimental Phase 4,Phase 1,Early Phase 1 50-22-6 5753
6 Antiparkinson Agents Phase 4,Phase 3,Phase 2
7 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
9 Fluorodeoxyglucose F18 Phase 4,Phase 2,Phase 1,Not Applicable
10 Radiopharmaceuticals Phase 4,Phase 2,Not Applicable
11 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
12 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
13 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
14 Antidepressive Agents Phase 4,Phase 2,Phase 1
15 Antidepressive Agents, Second-Generation Phase 4
16 Neurotransmitter Uptake Inhibitors Phase 4
17 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
18 Serotonin Agents Phase 4,Phase 3
19 Serotonin Uptake Inhibitors Phase 4
20 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
21 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2
22 Anti-Inflammatory Agents Phase 4,Phase 1
23 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
24 Analgesics Phase 4,Phase 1
25 Analgesics, Non-Narcotic Phase 4,Phase 1
26 cadexomer iodine Phase 4
27
Serotonin Investigational, Nutraceutical Phase 4,Phase 3 50-67-9 5202
28 Calamus Nutraceutical Phase 4
29
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
30
Methylene blue Approved, Investigational Phase 3 61-73-4
31
Miglustat Approved Phase 3,Phase 2,Phase 1 72599-27-0 51634
32
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
33
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
34
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
36
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
37
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
38
Iron Approved Phase 2, Phase 3 7439-89-6 23925
39 tannic acid Approved, Nutraceutical Phase 3
40
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
41 Anti-HIV Agents Phase 3,Phase 2,Phase 1
42 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
43 Cardiac Glycosides Phase 3,Phase 2,Phase 1
44 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Phase 1
45 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
46 Alkylating Agents Phase 2, Phase 3
47 Antilymphocyte Serum Phase 2, Phase 3
48 Antineoplastic Agents, Alkylating Phase 2, Phase 3
49 Antirheumatic Agents Phase 2, Phase 3,Phase 1
50 Immunosuppressive Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 160)
# Name Status NCT ID Phase Drugs
1 Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
4 Imaging of Brain Amyloid Plaques in the Aging Population Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
5 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
6 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
7 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
8 Open Label Pilot Study of the Effects of Memantine 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 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
11 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
12 Relapse Prevention Study of Pimavanserin in Dementia-related Psychosis Recruiting NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
13 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
14 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
15 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
16 Conservative Iron Chelation as a Disease-modifying Strategy in Amyotrophic Lateral Sclerosis Not yet recruiting NCT03293069 Phase 2, Phase 3 Deferiprone;Placebo Oral Tablet
17 Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
18 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
19 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
20 Study to Assess the Safety, Tolerability, and Pharmacodynamic (PD) Effects of FRM-0334 in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
21 Effects of Tolcapone on Frontotemporal Dementia Unknown status NCT00604591 Phase 2 Tolcapone;Placebo
22 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
23 A Pilot Study to Explore the Safety and Tolerability of Galantamine HBr in the Treatment of Pick Complex/Frontotemporal Dementia Completed NCT00416169 Phase 2 galantamine hydrobromide
24 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
25 Efficacy and Tolerability of Memantine in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
26 Imaging Characteristics of Florbetapir 18F in Patients With Frontotemporal Dementia, Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
27 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
28 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Completed NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
29 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
30 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
31 Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
32 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
33 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
34 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Recruiting NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
35 Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1 Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
36 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
37 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
38 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Active, not recruiting NCT02414230 Phase 2 Drug: F 18 T807
39 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
40 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
41 F 18 T807 Tau PET Imaging of Progressive Posterior Cortical Dysfunction (IND 123119, Protocol E) Enrolling by invitation NCT02414282 Phase 2 F 18 T807
42 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Enrolling by invitation NCT02676843 Phase 2 18F-AV-1451
43 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
44 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
45 F 18 T807 Tau PET Imaging of Frontotemporal Dementia (FTD) Withdrawn NCT02707978 Phase 2 F 18 T807
46 Far Infrared Irradiation for the Management, Control and Treatment of Frontotemporal Dementia Unknown status NCT00674960 Phase 1
47 Far Infrared Radiation Treatment of Dementia and Other Mental Illness Unknown status NCT00574054 Phase 1
48 Safety Study of Intranasal Oxytocin in Frontotemporal Dementia Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
49 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
50 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270

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:

41
Brain, Testes, Liver, Cortex, Prefrontal Cortex, Bone, Eye

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

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

(show top 50) (show all 351)
# Title Authors Year
1
Sentence composition ability in two patients with non-fluent/agrammatic variant primary progressive aphasia. ( 29409157 )
2018
2
Treatment for Lexical Retrieval Impairments in Primary Progressive Aphasia: A Research Update with Implications for Clinical Practice. ( 29933491 )
2018
3
[18F]AV-1451 tau-PET and primary progressive aphasia. ( 29451323 )
2018
4
Tau Uptake in Agrammatic Primary Progressive Aphasia with and without Apraxia of Speech. ( 29935044 )
2018
5
Episodic and working memory function in Primary Progressive Aphasia: A meta-analysis. ( 29928907 )
2018
6
The Impact of Aphasia Camp Participation on Quality of Life: A Primary Progressive Aphasia Perspective. ( 29933493 )
2018
7
Long-Term maintenance of anomia treatment effects in primary progressive aphasia. ( 29380657 )
2018
8
A Life Participation Approach to Primary Progressive Aphasia Intervention. ( 29933494 )
2018
9
Rate and rhythm control strategies for apraxia of speech in nonfluent primary progressive aphasia. ( 29682238 )
2018
10
Primary progressive aphasia: a clinical approach. ( 29392464 )
2018
11
Molecular neuroimaging in primary progressive aphasia with predominant agraphia. ( 29569990 )
2018
12
Development, Cross-Cultural Adaptation, and Psychometric Characteristics of the Persian Progressive Aphasia Language Scale in Patients With Primary Progressive Aphasia: A Pilot Study. ( 29942438 )
2018
13
Person-Centered Approaches to Communication Participation and Engagement for Individuals with Primary Progressive Aphasia and Dementia. ( 29933486 )
2018
14
Parkinsonism is associated with altered primary motor cortex plasticity in frontotemporal dementia-primary progressive aphasia variant. ( 29909180 )
2018
15
Assessment of Individuals with Primary Progressive Aphasia. ( 29933490 )
2018
16
Distinct [<sup>18</sup>F]THK5351 binding patterns in primary progressive aphasia variants. ( 29946950 )
2018
17
[(18)F]AV-1451 binding in vivo mirrors the expected distribution of TDP-43 pathology in the semantic variant of primary progressive aphasia. ( 28912300 )
2017
18
Naming unique entities in the semantic variant of primary progressive aphasia and Alzheimer's disease: Towards a better understanding of the semantic impairment. ( 27939367 )
2017
19
Emotion detection deficits and changes in personality traits linked to loss of white matter integrity in primary progressive aphasia. ( 28879086 )
2017
20
Temporal acoustic measures distinguish primary progressive apraxia of speech from primary progressive aphasia. ( 28187331 )
2017
21
Clinical marker for Alzheimer disease pathology in logopenic primary progressive aphasia. ( 28515265 )
2017
22
Cholinergic depletion and basal forebrain volume in primary progressive aphasia. ( 28018854 )
2017
23
Globular glial tauopathy presenting as non-fluent/agrammatic variant primary progressive aphasia with chorea. ( 28923295 )
2017
24
Features of Patients With Nonfluent/Agrammatic Primary Progressive Aphasia With Underlying Progressive Supranuclear Palsy Pathology or Corticobasal Degeneration. ( 27111692 )
2016
25
Neuropathologic Associations of Learning and Memory in Primary Progressive Aphasia. ( 27183206 )
2016
26
Focal temporal pole atrophy and network degeneration in semantic variant primary progressive aphasia. ( 28040670 )
2016
27
Am I looking at a cat or a dog? Gaze in the semantic variant of primary progressive aphasia is subject to excessive taxonomic capture. ( 26500393 )
2016
28
Pathological Diagnosis During Life in Patients With Primary Progressive Aphasia: Seeking the Holy Grail. ( 27182808 )
2016
29
Diffuse leukoencephalopathy with spheroids presenting as primary progressive aphasia. ( 27163664 )
2016
30
A Dextral Primary Progressive Aphasia Patient with Right Dominant Hypometabolism and Tau Accumulation and Left Dominant Amyloid Accumulation. ( 27194988 )
2016
31
Direct current stimulation over the anterior temporal areas boosts semantic processing in primary progressive aphasia. ( 27553723 )
2016
32
Non Fluent Variant of Primary Progressive Aphasia Due to the Novel GRN g.9543delA(IVS3-2delA) Mutation. ( 27567822 )
2016
33
The Role of Single-Subject Brain Metabolic Patterns in the Early Differential Diagnosis of Primary Progressive Aphasias and in Prediction of Progression to Dementia. ( 27662315 )
2016
34
Asymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions. ( 26791154 )
2016
35
Grey Matter Density Predicts the Improvement of Naming Abilities After tDCS Intervention in Agrammatic Variant of Primary Progressive Aphasia. ( 27194245 )
2016
36
Deep Dyslexia in Chinese Primary Progressive Aphasia of Semantic Variant. ( 27093385 )
2016
37
Variable disruption of a syntactic processing network in primary progressive aphasia. ( 27554388 )
2016
38
Primary Progressive Aphasia in the Network of French Alzheimer Plan Memory Centers. ( 27589533 )
2016
39
A patient with agrammatic primary progressive aphasia developing frontotemporal dementia. ( 25739362 )
2015
40
Clinical and neuroimaging biomarkers of amyloid-negative logopenic primary progressive aphasia. ( 25658633 )
2015
41
Amyloid and FDG-PET study of logopenic primary progressive aphasia: evidence for the existence of two subtypes. ( 25860346 )
2015
42
The semantic variant of primary progressive aphasia: clinical and neuroimaging evidence in single subjects. ( 25756991 )
2015
43
Hippocampal subfield surface deformity in non-semantic primary progressive aphasia. ( 25893207 )
2015
44
Substance Use History in Behavioral-Variant Frontotemporal Dementia Versus Primary Progressive Aphasia. ( 26485480 )
2015
45
Classification of primary progressive aphasia. ( 25871701 )
2015
46
Neuropsychiatric symptoms in primary progressive aphasia and apraxia of speech. ( 25613190 )
2015
47
Dominant Frontotemporal Dementia Mutations in 140 Cases of Primary Progressive Aphasia and Speech Apraxia. ( 25765123 )
2015
48
Clinical course of primary progressive aphasia: clinical and FDG-PET patterns. ( 25491078 )
2015
49
Visual and statistical analysis of (18)F-FDG PET in primary progressive aphasia. ( 25647075 )
2015
50
Differentiation between Subtypes of Primary Progressive Aphasia by Using Cortical Thickness and Diffusion-Tensor MR Imaging Measures. ( 25734554 )
2015

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

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

75
# Symbol AA change Variation ID SNP ID
1 GRN p.Ala9Asp VAR_044451 rs63751243

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

6
(show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRN GRN, IVS0DS, G-C, +5 single nucleotide variant Pathogenic
2 GRN NM_002087.3(GRN): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic rs63750077 GRCh37 Chromosome 17, 42427619: 42427619
3 GRN NM_002087.3(GRN): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic rs63750077 GRCh38 Chromosome 17, 44350251: 44350251
4 GRN NM_002087.3(GRN): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs63751006 GRCh37 Chromosome 17, 42426534: 42426534
5 GRN NM_002087.3(GRN): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs63751006 GRCh38 Chromosome 17, 44349166: 44349166
6 GRN NM_002087.3(GRN): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs63750331 GRCh37 Chromosome 17, 42426535: 42426535
7 GRN NM_002087.3(GRN): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs63750331 GRCh38 Chromosome 17, 44349167: 44349167
8 GRN NM_002087.3(GRN): c.93_96dupCCTG (p.Asp33Profs) duplication Pathogenic rs606231220 GRCh38 Chromosome 17, 44349257: 44349260
9 GRN NM_002087.3(GRN): c.93_96dupCCTG (p.Asp33Profs) duplication Pathogenic rs606231220 GRCh37 Chromosome 17, 42426625: 42426628
10 GRN NM_002087.3(GRN): c.388_391delCAGT (p.Gln130Serfs) deletion Pathogenic rs63749801 GRCh37 Chromosome 17, 42427634: 42427637
11 GRN NM_002087.3(GRN): c.388_391delCAGT (p.Gln130Serfs) deletion Pathogenic rs63749801 GRCh38 Chromosome 17, 44350266: 44350269
12 GRN NM_002087.3(GRN): c.835+1G> A single nucleotide variant Pathogenic rs606231221 GRCh38 Chromosome 17, 44351164: 44351164
13 GRN NM_002087.3(GRN): c.835+1G> A single nucleotide variant Pathogenic rs606231221 GRCh37 Chromosome 17, 42428532: 42428532
14 GRN NM_002087.3(GRN): c.26C> A (p.Ala9Asp) single nucleotide variant Pathogenic rs63751243 GRCh37 Chromosome 17, 42426558: 42426558
15 GRN NM_002087.3(GRN): c.26C> A (p.Ala9Asp) single nucleotide variant Pathogenic rs63751243 GRCh38 Chromosome 17, 44349190: 44349190
16 GRN NM_002087.3(GRN): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs63751294 GRCh37 Chromosome 17, 42429772: 42429772
17 GRN NM_002087.3(GRN): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs63751294 GRCh38 Chromosome 17, 44352404: 44352404
18 GRN GRN, 1-BP DEL, 998G deletion Pathogenic
19 GRN GRN, 1-BP INS, 1145A insertion Pathogenic
20 GRN GRN, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
21 GRN GRN, 2-BP DEL, 675CA deletion Pathogenic
22 GRN GRN, IVS6AS, A-G, -2 single nucleotide variant Pathogenic
23 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh37 Chromosome 17, 42428509: 42428512
24 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh38 Chromosome 17, 44351141: 44351144
25 GRN GRN, 1-BP DEL, 102C deletion Pathogenic
26 GRN GRN, 1-BP DEL, 154A deletion Pathogenic
27 GRN GRN, IVS6AS, G-A, -1 single nucleotide variant Pathogenic
28 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh37 Chromosome 17, 42426926: 42426926
29 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh38 Chromosome 17, 44349558: 44349558
30 GRN NM_002087.3(GRN): c.708+1G> A single nucleotide variant Pathogenic rs63749817 GRCh37 Chromosome 17, 42428169: 42428169
31 GRN NM_002087.3(GRN): c.708+1G> A single nucleotide variant Pathogenic rs63749817 GRCh38 Chromosome 17, 44350801: 44350801
32 GRN NM_002087.3(GRN): c.546G> A (p.Thr182=) single nucleotide variant Benign/Likely benign rs138473783 GRCh37 Chromosome 17, 42427893: 42427893
33 GRN NM_002087.3(GRN): c.546G> A (p.Thr182=) single nucleotide variant Benign/Likely benign rs138473783 GRCh38 Chromosome 17, 44350525: 44350525
34 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh38 Chromosome 17, 44351170: 44351170
35 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh37 Chromosome 17, 42428538: 42428538
36 GRN NM_002087.3(GRN): c.1227G> A (p.Thr409=) single nucleotide variant Benign rs140298583 GRCh37 Chromosome 17, 42429430: 42429430
37 GRN NM_002087.3(GRN): c.1227G> A (p.Thr409=) single nucleotide variant Benign rs140298583 GRCh38 Chromosome 17, 44352062: 44352062
38 GRN NM_002087.3(GRN): c.907delG (p.Ala303Profs) deletion Pathogenic GRCh38 Chromosome 17, 44351434: 44351434
39 GRN NM_002087.3(GRN): c.907delG (p.Ala303Profs) deletion Pathogenic GRCh37 Chromosome 17, 42428802: 42428802
40 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44352339: 44352339
41 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42429707: 42429707
42 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh38 Chromosome 17, 44351467: 44351467
43 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh37 Chromosome 17, 42428835: 42428835
44 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh38 Chromosome 17, 44350492: 44350492
45 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh37 Chromosome 17, 42427860: 42427860
46 GRN NM_002087.3(GRN): c.42G> A (p.Leu14=) single nucleotide variant Benign rs111435385 GRCh37 Chromosome 17, 42426574: 42426574
47 GRN NM_002087.3(GRN): c.42G> A (p.Leu14=) single nucleotide variant Benign rs111435385 GRCh38 Chromosome 17, 44349206: 44349206
48 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic GRCh37 Chromosome 17, 42426612: 42426612
49 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic GRCh38 Chromosome 17, 44349244: 44349244

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 MAPT RPS27A

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 8.8 GRN MAPT RPS27A

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

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