Grn-Related Frontotemporal Dementia (FTLD)

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

Aliases & Classifications for Grn-Related Frontotemporal Dementia

MalaCards integrated aliases for Grn-Related Frontotemporal Dementia:

Name: Grn-Related Frontotemporal Dementia 24 25 71
Hereditary Dysphasic Disinhibition Dementia 24 25
Frontotemporal Lobar Degeneration 25 71
Ftdu-17 24 25
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 71
Ftld with Tdp-43 Pathology 25
Frontotemporal Dementia 71
Ftdp-17 Grn 25
Ftd-Pgrn 25
Ftld-Tdp 25
Ftd-Grn 25
Hddd1 25
Hddd2 25
Ftld 25



Penetrance Penetrance is about 90% by age 75 years, but apparent incomplete penetrance has also been observed in a few cases [cruts et al 2006a, gass et al 2006]. more reports will be needed before the penetrance can be more accurately established....


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UMLS 71 C0338451 C0751072 C1843792 more

Summaries for Grn-Related Frontotemporal Dementia

Genetics Home Reference : 25 GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people typically survive 6 to 7 years after the appearance of symptoms. However, the features of this condition vary significantly, even among affected members of the same family. GRN Behavioral changes are the most common early signs of GRN-related frontotemporal dementia. These include marked changes in personality, judgment, and insight. It may become difficult for affected individuals to interact with others in a socially appropriate manner. Affected people may also become easily distracted and unable to complete tasks. They increasingly require help with personal care and other activities of daily living. GRN Many people with GRN-related frontotemporal dementia develop progressive problems with speech and language (aphasia). Affected individuals may have trouble speaking, remembering words and names (dysnomia), and understanding speech. Over time, they may completely lose the ability to communicate. GRN Some people with GRN-related frontotemporal dementia also develop movement disorders, such as parkinsonism and corticobasal syndrome. The signs and symptoms of these disorders include tremors, rigidity, unusually slow movement (bradykinesia), involuntary muscle spasms (myoclonus), uncontrolled muscle tensing (dystonia), and an inability to carry out purposeful movements (apraxia). GRN

MalaCards based summary : Grn-Related Frontotemporal Dementia, also known as hereditary dysphasic disinhibition dementia, is related to amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and semantic dementia, and has symptoms including agitation, restlessness and personality changes. The drugs Citalopram and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone.

GeneReviews: NBK1371

Related Diseases for Grn-Related Frontotemporal Dementia

Diseases in the Frontotemporal Dementia family:

Grn-Related Frontotemporal Dementia Chmp2b-Related Frontotemporal Dementia

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

(showing 152, show less)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 12.1
2 semantic dementia 12.0
3 progressive non-fluent aphasia 11.9
4 pick disease of brain 11.9
5 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.7
6 frontotemporal dementia 11.7
7 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.7
8 perry syndrome 11.5
9 amyotrophic lateral sclerosis 1 11.2
10 aphasia 11.2
11 lateral sclerosis 11.2
12 alzheimer disease 11.1
13 motor neuron disease 11.0
14 corticobasal degeneration 11.0
15 supranuclear palsy, progressive, 1 11.0
16 dementia 10.8
17 apraxia 10.7
18 frontotemporal dementia, chromosome 3-linked 10.6
19 speech and communication disorders 10.5
20 multiple system atrophy 1 10.5
21 cerebral atrophy 10.5
22 tardbp-related amyotrophic lateral sclerosis 10.5
23 primary lateral sclerosis, adult, 1 10.4
24 paget's disease of bone 10.4
25 neuronal ceroid lipofuscinosis 10.4
26 major affective disorder 8 10.3
27 major affective disorder 9 10.3
28 amnestic disorder 10.3
29 pseudobulbar palsy 10.3
30 bipolar disorder 10.3
31 myopathy 10.3
32 nominal aphasia 10.3
33 neuroblastoma 10.3
34 vascular dementia 10.3
35 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 10.3
36 autonomic dysfunction 10.3
37 cerebral amyloid angiopathy, cst3-related 10.2
38 creutzfeldt-jakob disease 10.2
39 huntington disease 10.2
40 parkinson disease, late-onset 10.2
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
42 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.2
43 hydrocephalus 10.2
44 dyscalculia 10.2
45 locked-in syndrome 10.2
46 quadriplegia 10.2
47 mutism 10.2
48 movement disease 10.2
49 prion disease 10.2
50 cerebrovascular disease 10.2
51 adult polyglucosan body disease 10.2
52 cytokine deficiency 10.2
53 chmp2b-related frontotemporal dementia 10.2
54 dysphagia 10.2
55 specific language disorder 10.2
56 argyria 10.2
57 autosomal dominant cerebellar ataxia 10.2
58 autoimmune disease 10.1
59 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1
60 dementia, lewy body 10.1
61 inclusion body myositis 10.1
62 myositis 10.1
63 obsessive-compulsive disorder 10.1
64 paget disease of bone 3 10.1
65 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.1
66 schizophrenia 1 10.1
67 neural tube defects 10.1
68 autism 10.1
69 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.1
70 ataxia and polyneuropathy, adult-onset 10.1
71 apraxia of eyelid opening 10.1
72 aceruloplasminemia 10.1
73 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.1
74 ewing sarcoma 10.1
75 amyotrophic lateral sclerosis 12 10.1
76 amyotrophic lateral sclerosis 17 10.1
77 ceroid lipofuscinosis, neuronal, 11 10.1
78 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.1
79 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.1
80 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.1
81 chorea, childhood-onset, with psychomotor retardation 10.1
82 agraphia 10.1
83 stuttering 10.1
84 spastic quadriplegia 10.1
85 sarcoma 10.1
86 pertussis 10.1
87 respiratory failure 10.1
88 bronchopneumonia 10.1
89 choreatic disease 10.1
90 alexia 10.1
91 generalized anxiety disorder 10.1
92 cerebral degeneration 10.1
93 avoidant personality disorder 10.1
94 personality disorder 10.1
95 normal pressure hydrocephalus 10.1
96 neuritis 10.1
97 psychotic disorder 10.1
98 mood disorder 10.1
99 temporal lobe epilepsy 10.1
100 liposarcoma 10.1
101 mammary paget's disease 10.1
102 echolalia 10.1
103 akinetic mutism 10.1
104 dysgraphia 10.1
105 ideomotor apraxia 10.1
106 prosopagnosia 10.1
107 dystonia 10.1
108 fundus dystrophy 10.1
109 bullous pemphigoid 10.1
110 eating disorder 10.1
111 amyloidosis 10.1
112 speech disorder 10.1
113 muscular dystrophy 10.1
114 47,xyy 10.1
115 lrrk2 parkinson disease 10.1
116 mitochondrial disorders 10.1
117 adult neuronal ceroid lipofuscinosis 10.1
118 juvenile amyotrophic lateral sclerosis 10.1
119 spasticity 10.1
120 traumatic brain injury 10.1
121 tremor 10.1
122 posttransplant acute limbic encephalitis 10.1
123 systemic autoimmune disease 10.1
124 classic progressive supranuclear palsy syndrome 10.1
125 progressive supranuclear palsy-corticobasal syndrome 10.1
126 motor stereotypies 10.1
127 inherited retinal disorder 10.1
128 posterior cortical atrophy 10.1
129 obsolete: argyrophilic grain disease 10.1
130 spinocerebellar ataxia 2 10.1
131 retinoblastoma 9.9
132 lymphoma, hodgkin, classic 9.9
133 aging 9.9
134 alzheimer disease 9 9.9
135 spinocerebellar ataxia 36 9.9
136 helix syndrome 9.9
137 aspiration pneumonia 9.9
138 associative agnosia 9.9
139 phonagnosia 9.9
140 cardiac arrest 9.9
141 expressive language disorder 9.9
142 pica disease 9.9
143 lipid metabolism disorder 9.9
144 progressive muscular atrophy 9.9
145 agnosia 9.9
146 familial retinoblastoma 9.9
147 muscular atrophy 9.9
148 pathologic nystagmus 9.9
149 elective mutism 9.9
150 splenomegaly 9.9
151 dementia - subcortical 9.9
152 myoclonus 9.9

Comorbidity relations with Grn-Related Frontotemporal Dementia via Phenotypic Disease Network (PDN): (showing 2, show less)

Acute Cystitis Alzheimer Disease

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

Diseases related to Grn-Related Frontotemporal Dementia

Symptoms & Phenotypes for Grn-Related Frontotemporal Dementia

UMLS symptoms related to Grn-Related Frontotemporal Dementia:

agitation, restlessness, personality changes, memory loss

Drugs & Therapeutics for Grn-Related Frontotemporal Dementia

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

(showing 117, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Citalopram Approved Phase 4 59729-33-8 2771
Acetaminophen Approved Phase 4 103-90-2 1983
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
Corticosterone Experimental Phase 4 50-22-6 5753
5 Serotonin Uptake Inhibitors Phase 4
6 Serotonin Agents Phase 4
7 Narcotics Phase 4
8 Antipyretics Phase 4
9 Analgesics, Opioid Phase 4
10 Narcotic Antagonists Phase 4
11 Fluorodeoxyglucose F18 Phase 4
12 Anti-Inflammatory Agents Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
Miglustat Approved Phase 3 72599-27-0 51634
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
Methylene blue Approved, Investigational Phase 3 61-73-4
1-Deoxynojirimycin Investigational Phase 3 19130-96-2 1374
20 Psychotropic Drugs Phase 3
21 Tranquilizing Agents Phase 3
22 Central Nervous System Depressants Phase 3
23 Antipsychotic Agents Phase 3
24 Hypoglycemic Agents Phase 3
25 Anti-Retroviral Agents Phase 3
26 Cardiac Glycosides Phase 3
27 Glycoside Hydrolase Inhibitors Phase 3
28 Anti-HIV Agents Phase 3
29 Serotonin 5-HT2 Receptor Antagonists Phase 3
30 Serotonin Antagonists Phase 3
Galantamine Approved Phase 2 357-70-0 9651
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
Memantine Approved, Investigational Phase 2 19982-08-2 4054
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
Zinc Approved, Investigational Phase 2 7440-66-6 32051
Lithium carbonate Approved Phase 2 554-13-2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Busulfan Approved, Investigational Phase 2 55-98-1 2478
alemtuzumab Approved, Investigational Phase 2 216503-57-0
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
45 Sympathomimetics Phase 2
46 Catechol O-Methyltransferase Inhibitors Phase 2
47 Catechol Phase 2
48 Autonomic Agents Phase 2
49 Protective Agents Phase 2
50 Nootropic Agents Phase 2
51 Cholinergic Agents Phase 2
52 Cholinesterase Inhibitors Phase 2
53 Histone Deacetylase Inhibitors Phase 1, Phase 2
54 N-monoacetylcystine Phase 1, Phase 2
55 Free Radical Scavengers Phase 1, Phase 2
56 Antioxidants Phase 1, Phase 2
57 Respiratory System Agents Phase 1, Phase 2
58 Antidotes Phase 1, Phase 2
59 Expectorants Phase 1, Phase 2
60 Excitatory Amino Acid Antagonists Phase 2
61 Excitatory Amino Acids Phase 2
62 Antidepressive Agents Phase 2
63 Oxytocics Phase 2
64 insulin Phase 2
65 Insulin, Globin Zinc Phase 2
66 Antimanic Agents Phase 2
67 Liver Extracts Phase 1, Phase 2
Bilirubin Phase 1, Phase 2 635-65-4, 69853-43-6 5280352 21252250
69 Immunologic Factors Phase 2
70 Alkylating Agents Phase 2
71 Antineoplastic Agents, Immunological Phase 2
72 Immunosuppressive Agents Phase 2
73 Antirheumatic Agents Phase 2
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
Nimodipine Approved, Investigational Phase 1 66085-59-4 4497
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
Tyrosine Approved, Investigational, Nutraceutical Phase 1 60-18-4 6057
79 Antihypertensive Agents Phase 1
80 Vasodilator Agents Phase 1
81 Calcium, Dietary Phase 1
82 calcium channel blockers Phase 1
83 Hormones Phase 1
84 Pharmaceutical Solutions Phase 1
85 Antiparasitic Agents Phase 1
86 Vaccines Phase 1
87 Keyhole-limpet hemocyanin Phase 1
88 Tin Fluorides Phase 1
89 Antibodies, Monoclonal Phase 1
90 Immunoglobulins Phase 1
91 Antibodies Phase 1
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
Dextromethorphan Approved 125-71-3 5360696 5362449
Quinidine Approved, Investigational 56-54-2 441074
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
Cobalamin Experimental 13408-78-1 6857388
98 Flutemetamol Investigational 637003-10-2
99 Central Nervous System Stimulants
100 Anti-Bacterial Agents
101 interferons
102 Antibiotics, Antitubercular
103 Adjuvants, Immunologic
104 polysaccharide-K
105 Interferon Inducers
106 Radiation-Protective Agents
107 Vitamins
108 Vitamin B 12
109 Vitamin B12
110 Calciferol
111 Quinidine gluconate
112 Dopamine agonists
113 Radiopharmaceuticals
114 Acidophilus
115 Bifidobacterium
116 Anesthetics
117 Deoxyglucose

Interventional clinical trials:

(showing 188, show less)
# Name Status NCT ID Phase Drugs
1 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4 Memantine
2 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
3 Efficacy of Pain Treatment on Depression in Patients With Dementia. A Randomized Clinical Trial. Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
4 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
5 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
6 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
7 A Training and Fidelity Model to Move and Scale Evidence-based Dementia Care and Caregiver Support Programs Into Practice: The Case for COPE in PACE Service Settings Not yet recruiting NCT04165213 Phase 4
8 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
9 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
10 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
11 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
12 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
13 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
14 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
15 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
16 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
17 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
18 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
19 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
20 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
21 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
22 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
23 Direct Current Brain Polarization for Apraxia in Corticobasal Syndrome Completed NCT00273897 Phase 2
24 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
25 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
26 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
27 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon
28 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
29 A Single Center Feasibility Study of Intranasal Insulin in Frontotemporal Dementia NIFT-D Recruiting NCT04115384 Phase 2 Novolin-R insulin
30 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
31 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
32 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
33 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
34 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
35 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)
36 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT04046991 Phase 2
37 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
38 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
39 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
40 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
41 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
42 18F-AV-1451 PET Imaging in Subjects With Frontotemporal Dementia Completed NCT03040713 Phase 1 18F-AV-1451;18F-AV-45
43 A Phase I Dose Finding Study of Intranasal Oxytocin in Frontotemporal Dementia, Protocol # FTDOXY10EF Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
44 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
45 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)
46 An Open Label Dose Finding Study of Nimodipine for the Treatment of Progranulin Insufficiency From GRN Gene Mutations Completed NCT01835665 Phase 1 Nimodipine
47 Amyloid-related Imaging Abnormalities (Microbleeds) in Atypical AD Completed NCT01723553 Phase 1 C-11 PiB
48 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
49 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
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
51 Alzheimer's PET Imaging in Racially/Ethnically Diverse Adults Recruiting NCT03706261 Phase 1 18F-MK-6240;18F-Florbetaben
52 Tau PET Imaging in Atypical Dementias Recruiting NCT03283449 Phase 1 18F-AV-1451
53 PET Imaging of Neuroinflammation in Neurodegenerative Diseases Via a Novel TSPO Radioligand Recruiting NCT03958630 Phase 1 11C-ER176;11C-PIB
54 An Open‐Label Extension Study of the Long‐Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP‐β‐CD) in Patients With Niemann‐Pick Disease Type C (NPC‐1) Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
55 A 24-month Randomised Parallel Group Single-blinded Multi-centre Phase 1 Pilot Study of AADvac1 in Patients With Non Fluent Primary Progressive Aphasia Active, not recruiting NCT03174886 Phase 1 AADvac1 40 µg;AADvac1 160 µg
56 Open Label Study for the Use of Tyrosine Kinase Inhibitors for Treatment of Cognitive Decline Due to Degenerative Dementias Enrolling by invitation NCT02921477 Phase 1 bosutinib
57 A Phase 1b, Randomized, Double-Blind, Placebo-Controlled, Parallel Cohort Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy Study of Intravenously Infused BIIB092 in Patients With Four Different Primary Tauopathy Syndromes Terminated NCT03658135 Phase 1 BIIB092
58 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
59 Social Cognition in Ageing and in Frontotemporal Lobar Degeneration (Frontotemporal Dementia and Semantic Dementia): a Cognitive and Neuroimaging Study Unknown status NCT01962064
60 Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Unknown status NCT02590276
61 Identification of New Genes Causing Frontotemporal Lobar Degeneration by Whole Exome Sequencing and Characterization of the Associated Phenotypes Unknown status NCT02363062
62 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
63 Study of Social Behavior and Emotion in Frontotemporal Dementia, Alzheimer's Disease and Controls Unknown status NCT01147679
64 Evaluation and Characterization of Behavioural Disorders and Dementias by the Behavioural Dysexecutive Syndrome Inventory (BDSI) Unknown status NCT02819700
65 Evaluation de l'Effet de la tDCS Sur Les Fonctions Cognitives de Patients Souffrant de Maladie d'Alzheimer et Maladies apparentées au Stade léger Unknown status NCT02873546
66 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
67 Biodistribution of 11C-PIB PET in Alzheimer's Disease, Frontotemporal Dementia, and Cognitively Normal Elderly Unknown status NCT00811122 Early Phase 1
68 A Nordic Multicentre Observational Study of Persons With Young Onset Dementia and Their Families - Factors Influencing Quality of Life, Theirs Specific Needs and the Use of Healthcare Resources Unknown status NCT02055092
69 Predictors of Cognitive Decline in Normal Aging Unknown status NCT00094939
70 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
71 Diagnosis of Alzheimer's Disease Using Event Related Potentials Unknown status NCT02957227
72 Linguistic, Anatomic/Metabolic and Biologic Characterisation of the Three Main Variants of Primary Progressive Aphasia : Towards the Rationale for Drug Trials and Specific Language Rehabilitations Unknown status NCT02297035
73 A Non-Blinded, Non-Significant Risk Study With a Non-Invasive, Passive Pressure Wave Method of Diagnosing Brain Pathologies to Develop a Diagnostic Algorithm for Alzheimer Disease and Other Dementias. Completed NCT02333942
74 The Ontario Neurodegenerative Disease Research Initiative Completed NCT04104373
75 Treatment Study for Frontotemporal Dementia Completed NCT00088751
76 PET Evaluation of Brain Peripheral Benzodiazepine Receptors Using [11C]PBR28 in Neurological Disorders Completed NCT00613119
77 Measurement of P-Glycoprotein Function in Alzheimer Disease, Parkinson Disease, and Frontotemporal Dementia Using Positron Emission Tomography Completed NCT00677885
78 Psycho-behavioral Disorders in Frontotemporal Lobar Degeneration: Validation of a Quantification and Follow-up Scale Completed NCT02889601
79 Assessment of Social-emotional Functioning in Stroke, Frontotemporal Dementia, Alzheimer and Parkinson Diseases Completed NCT01339130
80 Neuropsychological and Anatomical Study of Concept Formation in Frontal Patients Completed NCT01100281
81 Pilot Study of EEG and Cerebral Blood Flow Biofeedback Training in Remediating Cognitive and Behavioral Deficits in Adults With a Dementing Illness. Completed NCT01168466
82 University of California, San Francisco (UCSF) and University of Nebraska Medical Center (UNMC) Care Ecosystem Completed NCT02213458
83 A Study to Model Rates of Change on Neuropsychological Test Measures in Subjects Diagnosed With Behavioral Variant Frontotemporal Dementia and Healthy Subjects Completed NCT03088956
84 Quantitative Evaluation of Apathy Close to Real Life Situation by Means of a Multimodal Sensor System Integrated in Healthy Subjects and Patients With Frontotemporal Dementia. Pilot Phase. Completed NCT02496312
85 Investigation of the Effects of Intranasal Oxytocin on Cognition and Emotion Processing in Frontotemporal Dementia Completed NCT01002300 intranasal oxytocin
86 Efficacy of Web-Based Social-Cognitive Interventions in Right Hemisphere Stroke and Frontotemporal Dementia Completed NCT02506036
87 A Non-invasive, Multimodal Approach to Restore Functional Networks and Cognition in Alzheimer's Disease and Frontotemporal Dementia Completed NCT03422250
88 Validation Trial for a Multi-parameter Diagnostic Blood Test for the Diagnosis of Alzheimer's Disease Completed NCT02409030
89 SPECT/CT in the Diagnosis of Dementia Completed NCT01112501
90 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern Completed NCT02435030
91 Virtual Physiological Human (VPH) Dementia Research Enabled by IT - Prospective Cohort Kuopio Completed NCT02050464
92 Investigating the Use of Transcranial Magnetic Stimulation (TMS) for Primary Progressive Apraxia of Speech (PPAOS) Completed NCT03028324
93 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
94 Blood Gene Expression Signature in Patients Diagnosed With Probable Alzheimer's Disease Compared to Patients Suffering From Other Types of Dementia : A Prospective Study for a Blood Diagnostic Test in Alzheimer's Disease - (Protocol n° EHTAD/002). Completed NCT00880347
95 Slowing Language Decline in Progressive Aphasia Through Language Rehabilitation: Treatment and Neuroimaging Study Completed NCT00957710
96 P75NTR, Diagnostic Biomarker for Alzheimer's Disease: Quantification Study in Cerebrospinal Fluid Completed NCT02946710
97 Performance of AclarusDx™, A Blood-Based Transcriptomic Test for Alzheimer's Disease, in US-based Patients Suffering From Memory Impairment and Newly Referred to A Reference Memory Center, for AD Diagnostic Workup—A Pilot Descriptive Study Completed NCT01465360
98 Phase 0 Evaluation of Clinical and Neuroimage (18F-PM-PBB3 PET) Study in Tauopathy Including Alzheimer's Disease, Other Dementias and Normal Controls Completed NCT03625128 Early Phase 1 F-18
99 Evaluation of a Handheld Event Related Potential (ERP)/Quantitative Electroencephalography (qEEG) System (COGNISION™) as a Useful Cognitive Biomarker for Alzheimer's Disease. Completed NCT00938665
100 RHAPSODY-plus: Online Counseling for Family Caregivers of Patients With Young Onset Dementia Completed NCT03923517
101 Retrospective Analysis of the Comparative Effectiveness of MCI and Dementia Treatment Protocols in a Community-based Specialty Dementia Practice Completed NCT02860338
102 Preventing Language Decline in Dementia Completed NCT02541097
103 Testing A Model of the Representational Knowledge Stored in the Human Prefrontal Cortex Completed NCT00024908
104 Memory Disorders Registry Completed NCT00654563
105 Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS Completed NCT02686268
106 A Longitudinal Population Study on Brain Aging and Mental Performances for the 1935-1939 Born People Living in Abbiategrasso (a Small Town Near Milan) Completed NCT01345110
107 The Role of Central and Systemic Inflammation and Aβ-specific Immune Responses in Early AD Completed NCT01775696
108 Multimodal Assessment For Predicting Specific Pathological Substrate in Frontotemporal Lobar Degeneration Recruiting NCT02964637
109 Assessing Changes in Social Cognition and Personality in Patients With Frontotemporal Lobar Degeneration, Alzheimer's Disease and Parkinson's Disease and Their Effect on the Patient-caregiver Relationship Recruiting NCT02964611
110 Rare Diseases Clinical Research Network Advancing Research and Treatment for Frontotemporal Lobar Degeneration [ARTFL]: Research Projects 1 & 2 Recruiting NCT02365922
111 Multidisciplinary and Personalized Care of Behavioral Disorders in Frontotemporal Lobar Degeneration. Recruiting NCT03606798
112 Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers Recruiting NCT04014673
113 Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Recruiting NCT03225144
114 Hippocampal Sclerosis and Amnesia Not Due to Alzheimer's Disease Recruiting NCT02576821
115 Rehabilitative Trial for the Recovery of Neurophysiological Parameters in Progranulin Mutation Carriers Through the Use of Transcranial Direct Current Stimulation (tDCS) Recruiting NCT02999282
116 Language in Primary Progressive Aphasia Recruiting NCT00537004
117 Patients With Alzheimer's Disease or Related Youth Disease Recruiting NCT03508024
118 Assessment of Apathy in a Real-life Situation, With a Video and Sensors-based System in Healthy Subject and Patient With Cerebral Disease Recruiting NCT03272230
119 Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects Recruiting NCT02372773
120 Organisation du Cortex préfrontal ventrolatéral Pour l'Analogie: Approche Bimodale Chez le Sujet Sain et Chez le Patient Ayant un Syndrome Frontal. Recruiting NCT02236832
121 Molecular Neuroimaging of Neuroinflammation in Neurodegenerative Dementias Recruiting NCT02945774
122 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430
123 Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism. Recruiting NCT00821132
124 Clinical Evaluation of [18F]PI-2620 Positron Emission Computed Tomography for Imaging Tau Protein in Patients With Tauopathies and Healthy Volunteers: Phase 0 Study Recruiting NCT03510572 Early Phase 1 [18F]PI-2620
125 VOICE Of bvFTD [Voices Of Individuals: Challenges and Experiences Of bvFTD] Recruiting NCT04060082
126 Human CNS Tau Kinetics in Tauopathies Recruiting NCT03545126
127 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
128 Communication Bridge: A Person-centered Internet-based Intervention for Individuals With Primary Progressive Aphasia Recruiting NCT03371706
129 Self-consciousness in Dementia Recruiting NCT01782248
130 Clinical Procedures to Support Research (CAPTURE) Recruiting NCT03489278
131 Exploring the Use of Acupuncture to Reduce Agitation, Irritability and Anxiety in Alzheimer's Disease and Alzheimer's Disease Related Dementias Utilizing Noninvasive Measures of Autonomic Nervous System Physiology and Actigraphy Biomarkers Recruiting NCT03814382
132 The Four-Repeat Tauopathy Neuroimaging Initiative Recruiting NCT02966145
133 Baseline Performance Predicts tDCS-mediated Improvements in Language Symptoms in Primary Progressive Aphasia Recruiting NCT02928848
134 Multimodal Ocular Imaging in Neurodegeneration Recruiting NCT03699644
135 Developing and Evaluating In-Home Supportive Technology for Dementia Caregivers Recruiting NCT03828383
136 The Neural Basis for Frontotemporal Degeneration Recruiting NCT03452956
137 The Comprehensive Assessment of Neurodegeneration and Dementia Study Recruiting NCT03402919
138 Transcranial Magnetic Stimulation in Primary Progressive Aphasia Recruiting NCT03580954
139 TRIAL READY (Clinical Trial Readiness) Recruiting NCT03912987
140 Connectomics in Psychiatric Classification Recruiting NCT03967535
141 A Multi-centre Proof-of-performance Clinical Study to Validate Blood-based Biomarker Candidates for the Diagnosis of Alzheimer's Disease Recruiting NCT03030586
142 Rehabilitating and Decelerating Language Loss in Primary Progressive Aphasia With Transcranial Direct Current Stimulation (tDCS) Plus Language Therapy Recruiting NCT03728582
143 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
144 Amyotrophic Lateral Sclerosis (ALS) Families Project Recruiting NCT03865420
145 The Neurobiology of Two Distinct Types of Progressive Apraxia of Speech Recruiting NCT03313011
146 Longitudinal Cognitive Assessment by BoCA Recruiting NCT04114994
147 The Feasibility of a Tailored Music Intervention to Reduce Symptoms of Sleep Disruption in Older Adults With Dementia Recruiting NCT04157244
148 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
149 Speech Analysis in ALS Patients With and Without Cognitive Abnormalities: Evaluation of Sensitivity and Disease Progression Recruiting NCT03868345
150 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Recruiting NCT03883750
151 Rehabilitation and Prophylaxis of Anomia in Primary Progressive Aphasia Recruiting NCT02675270
152 More Than a Movement Disorder: Applying Palliative Care to Parkinson's Disease Recruiting NCT03076671
153 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
154 Probiotics in Dementia Recruiting NCT03847714
155 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Recruiting NCT01306604
156 Smell, Voice and Nasal Swabs as Markers for Neuro-degenerative Disorders Recruiting NCT03299062
157 Combining tDCS and Neurorehabilitation to Treat Age-related Deficits of Mobility and Cognition: UPfront Walking Study Recruiting NCT03122236
158 Pilot Study of Repetitive Transcranial Magnetic Stimulation in Patients With Primary Progressive Aphasia. Recruiting NCT03406429 Early Phase 1
159 DC Longitudinal Study on Aging and Specimen Bank Recruiting NCT03702907
160 Optimization of Electrical Stimulation Approaches in Three Primary Progressive Aphasia Variants Recruiting NCT03887481
161 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
162 Neuromodulation of Language and Memory Networks in Alzheimer's Disease Recruiting NCT04045990
163 Impact of Hyponatremia on Muscle Strength, Gait and Balance, and Cognitive Function: a Prospective Observational Study Recruiting NCT04020926
164 Effects of Transcranial Direct Current Stimulation (tDCS) in Spoken and Written Production in Primary Progressive Aphasia (PPA) Recruiting NCT02606422
165 The Swedish BioFINDER 2 Study Recruiting NCT03174938
166 Communication Bridge Speech Therapy Research Study: Using Internet-Based Speech Therapy to Improve Quality of Life and Access to Care Active, not recruiting NCT02439853
167 Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Active, not recruiting NCT01925196
168 The Gut-Brain Axis in Dementia: Biomarker and Novel Intervention Strategies Active, not recruiting NCT03167983
169 Presymptomatic Neuromuscular Junction Defects and Compensatory Mechanisms in Amyotrophic Lateral Sclerosis (ALS) Active, not recruiting NCT03573466
170 Socially Inappropriate Behaviour in People With First Episode Psychosis: A Caregivers' Perspective Active, not recruiting NCT03501160
171 Imaging Tau Deposition in the Brain of Elderly Subjects Enrolling by invitation NCT02958670
172 EEG Classification System for Dementia Enrolling by invitation NCT02273921
173 Assessment of Hyperphosphorylated Tau PET Binding in Primary Progressive Aphasia Enrolling by invitation NCT02736695 F-18 AV 1451
174 A Randomized, Double-blinded, Sham-controlled Cross-over Study of Theta-burst Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia Not yet recruiting NCT03153540
175 Investigation of the Therapeutic Value of Transcranial Stimulation With Direct Current on Language Disorders in Semantic Dementia Not yet recruiting NCT03481933
176 Repetitive Transcranial Magnetic Stimulation for the Treatment of Primary Progressive Aphasia: A Randomized Controlled Tria Not yet recruiting NCT03448133
177 Development of a Global Scale Assessing Impairment in Cerebral Small Vessel Diseases Not yet recruiting NCT04170673
178 rTMS for the Improvement of Language Functioning in the Logopenic Variant of Primary Progressive Aphasia; a Feasibility and Tolerability Pilot Study Not yet recruiting NCT04193267
179 High-Definition Transcranial Direct Current Stimulation (HD-tDCS) in Logopenic Variant Primary Progressive Aphasia (lvPPA): Effects on Language and Neural Mechanisms Not yet recruiting NCT03805659
180 The Effects of a Multimodal Approach for the Treatment of Primary Progressive Aphasia Not yet recruiting NCT04187391
181 TMS in Primary Progressive Aphasia: Modulation of Brain Networks and Language Not yet recruiting NCT04188067 Early Phase 1
182 Use Of Autologous Stem Cell Use In Neurological Non-neoplastic Disorders And Disease Not yet recruiting NCT03297177
183 Regional Cerebral Utilization of Glucose in Patients With a Diagnosis of Frontal Lobe Dementia, Atypical Parkinsonian Disorder, and Other Basal Ganglia Disorders Terminated NCT00001178
184 Genetic Linkage in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Terminated NCT00159198
185 Challenges of Living With Frontotemporal Dementia: The Perspective of the Affected Individual Terminated NCT01738386
186 Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358
187 Biomarkers in Neurodegenerative Diseases Withdrawn NCT04055532
188 A Composite MR Neuroimaging Marker for Alzheimer's Disease Withdrawn NCT01615666

Search NIH Clinical Center for Grn-Related Frontotemporal Dementia

Genetic Tests for Grn-Related Frontotemporal Dementia

Anatomical Context for Grn-Related Frontotemporal Dementia

MalaCards organs/tissues related to Grn-Related Frontotemporal Dementia:

Brain, Testes, Bone, Cortex, Liver, T Cells, Prefrontal Cortex

Publications for Grn-Related Frontotemporal Dementia

Articles related to Grn-Related Frontotemporal Dementia:

(showing 82, show less)
# Title Authors PMID Year
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 61 24
17334266 2007
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. 61 24
16983685 2006
Fluorodeoxyglucose positron emission tomography in semantic dementia after 6 months of memantine: an open-label pilot study. 24
22674572 2013
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. 24
22344582 2012
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. 24
22366793 2012
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype. 24
22072213 2012
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 24
21944779 2011
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 24
21944778 2011
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. 24
21810890 2011
A harmonized classification system for FTLD-TDP pathology. 24
21644037 2011
Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. 24
21753165 2011
TDP-43: multiple targets, multiple disease mechanisms? 24
21445063 2011
Classification of primary progressive aphasia and its variants. 24
21325651 2011
rs5848 polymorphism and serum progranulin level. 24
21047645 2011
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. 24
20154673 2010
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. 24
20142525 2010
Low serum progranulin predicts the presence of mutations: a prospective study. 24
20858962 2010
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease. 24
19683260 2009
The granulin gene family: from cancer to dementia. 24
19795409 2009
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. 24
19858458 2009
An open-label study of memantine treatment in 3 subtypes of frontotemporal lobar degeneration. 24
19812461 2009
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. 24
19101631 2009
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. 24
19125255 2009
Stimulant treatment of frontotemporal dementia in 8 patients. 24
19203481 2008
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. 24
18723524 2008
Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family. 24
19012866 2008
Structural determinants of the cellular localization and shuttling of TDP-43. 24
18957508 2008
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. 24
18768919 2008
A 6-month, open-label study of memantine in patients with frontotemporal dementia. 24
18213609 2008
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. 24
18192287 2008
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. 24
18234697 2008
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. 24
18245784 2008
Galantamine in frontotemporal dementia and primary progressive aphasia. 24
18196898 2008
Progranulin locus deletion in frontotemporal dementia. 24
18157829 2008
Progranulin: normal function and role in neurodegeneration. 24
17953663 2008
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 24
17826340 2007
Progranulin null mutations in both sporadic and familial frontotemporal dementia. 24
17436289 2007
Clinicopathologic correlation in PGRN mutations. 24
17522386 2007
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 24
17620546 2007
The neuropathology and clinical phenotype of FTD with progranulin mutations. 24
17458552 2007
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. 24
17371905 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. 24
17345602 2007
Progranulin mutations in Dutch familial frontotemporal lobar degeneration. 24
17228326 2007
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. 24
17353379 2007
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 24
17202431 2007
Frontotemporal dementia: recommendations for therapeutic studies, designs, and approaches. 24
17469694 2007
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. 24
17278999 2007
Preliminary findings: behavioral worsening on donepezil in patients with frontotemporal dementia. 24
17194818 2007
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. 24
17210807 2007
Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 24
17168647 2006
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 24
17084815 2006
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. 24
17030534 2006
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. 24
17071926 2006
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. 24
17003069 2006
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 24
16950801 2006
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 24
17023659 2006
Characteristics of frontotemporal dementia patients with a Progranulin mutation. 24
16983677 2006
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 24
16807408 2006
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 24
16862115 2006
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 24
16862116 2006
Methylphenidate ('Ritalin') can ameliorate abnormal risk-taking behavior in the frontal variant of frontotemporal dementia. 24
16160709 2006
Genetic variability in CHMP2B and frontotemporal dementia. 24
16954699 2006
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 24
16041373 2005
The natural history of temporal variant frontotemporal dementia. 24
15851728 2005
Paroxetine does not improve symptoms and impairs cognition in frontotemporal dementia: a double-blind randomized controlled trial. 24
14666399 2004
Frontotemporal dementia: a randomised, controlled trial with trazodone. 24
15178953 2004
Rivastigmine in frontotemporal dementia: an open-label study. 24
15554751 2004
Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. 24
12928786 2003
Progranulin (granulin-epithelin precursor, PC-cell derived growth factor, acrogranin) in proliferation and tumorigenesis. 24
12973694 2003
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. 24
12876142 2003
Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. 24
12833363 2003
Epidemiology and genetics of frontotemporal dementia/Pick's disease. 24
12833366 2003
Laboratory investigations and treatment in frontotemporal dementia. 24
12833367 2003
Frontotemporal dementia: paroxetine as a possible treatment of behavior symptoms. A randomized, controlled, open 14-month study. 24
12464713 2003
Primary progressive aphasia. 24
11310619 2001
Inheritance of frontotemporal dementia. 24
10404983 1999
Granulins: the structure and function of an emerging family of growth factors. 24
9771457 1998
Effect of TMEM106B polymorphism on functional network connectivity in asymptomatic GRN mutation carriers. 61
24343233 2014
Multimodal FMRI resting-state functional connectivity in granulin mutations: the case of fronto-parietal dementia. 61
25188321 2014
Corticobasal syndrome associated with the A9D Progranulin mutation. 61
17917583 2007
Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia. 61
11220736 2001
Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. 61
9633693 1998

Variations for Grn-Related Frontotemporal Dementia

Expression for Grn-Related Frontotemporal Dementia

LifeMap Discovery
Genes differentially expressed in tissues of Grn-Related Frontotemporal Dementia patients vs. healthy controls: 35 (showing 8, show less)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 NEFL neurofilament, light polypeptide NULL - 3.74 0.002
2 VSNL1 visinin-like 1 NULL - 3.71 0.005
3 PCDH8 protocadherin 8 NULL - 3.66 0.000
4 PCSK1 proprotein convertase subtilisin/kexin type 1 NULL - 3.65 0.002
5 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide NULL - 3.24 0.002
6 RGS4 regulator of G-protein signaling 4 NULL - 3.21 0.001
7 SYT1 synaptotagmin I NULL - 3.20 0.005
8 STMN2 stathmin 2 NULL - 3.07 0.001
Search GEO for disease gene expression data for Grn-Related Frontotemporal Dementia.

Pathways for Grn-Related Frontotemporal Dementia

GO Terms for Grn-Related Frontotemporal Dementia

Sources for Grn-Related Frontotemporal Dementia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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