Grn-Related Frontotemporal Dementia (FTLD)

Categories: Mental diseases

Aliases & Classifications for Grn-Related Frontotemporal Dementia

MalaCards integrated aliases for Grn-Related Frontotemporal Dementia:

Name: Grn-Related Frontotemporal Dementia 24 25 72
Hereditary Dysphasic Disinhibition Dementia 24 25
Frontotemporal Lobar Degeneration 25 72
Ftdu-17 24 25
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 72
Ftld with Tdp-43 Pathology 25
Frontotemporal Dementia 72
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 72 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 frontotemporal dementia, and has symptoms including agitation, restlessness and personality changes. An important gene associated with Grn-Related Frontotemporal Dementia is GRN (Granulin Precursor). The drugs Citalopram and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver.

GeneReviews: NBK1371

Related Diseases for Grn-Related Frontotemporal Dementia

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

(showing 154, show less)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 12.1
2 frontotemporal dementia 12.0
3 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 12.0
4 pick disease of brain 11.9
5 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.7
6 perry syndrome 11.5
7 amyotrophic lateral sclerosis 1 11.2
8 lateral sclerosis 11.2
9 alzheimer disease 11.1
10 motor neuron disease 11.0
11 supranuclear palsy, progressive, 1 10.9
12 behavioral variant of frontotemporal dementia 10.9
13 frontotemporal dementia, chromosome 3-linked 10.6
14 speech and communication disorders 10.5
15 multiple system atrophy 1 10.5
16 cerebral atrophy 10.5
17 tardbp-related amyotrophic lateral sclerosis 10.5
18 primary lateral sclerosis, adult, 1 10.4
19 paget's disease of bone 10.4
20 neuronal ceroid lipofuscinosis 10.4
21 major affective disorder 8 10.3
22 major affective disorder 9 10.3
23 amnestic disorder 10.3
24 pseudobulbar palsy 10.3
25 bipolar disorder 10.3
26 myopathy 10.3
27 nominal aphasia 10.3
28 vascular dementia 10.3
29 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 10.3
30 autonomic dysfunction 10.3
31 aphasia 10.3
32 apraxia 10.3
33 dementia 10.3
34 movement disease 10.3
35 dystonia 10.3
36 eating disorder 10.3
37 corticobasal degeneration 10.3
38 progressive non-fluent aphasia 10.3
39 semantic dementia 10.3
40 dysphagia 10.3
41 myoclonus 10.3
42 cerebral amyloid angiopathy, cst3-related 10.2
43 huntington disease 10.2
44 parkinson disease, late-onset 10.2
45 neuroblastoma 1 10.2
46 pulmonary alveolar microlithiasis 10.2
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
48 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.2
49 dyscalculia 10.2
50 locked-in syndrome 10.2
51 quadriplegia 10.2
52 mutism 10.2
53 cerebrovascular disease 10.2
54 adult polyglucosan body disease 10.2
55 cytokine deficiency 10.2
56 chmp2b-related frontotemporal dementia 10.2
57 specific language disorder 10.2
58 argyria 10.2
59 autosomal dominant cerebellar ataxia 10.2
60 autoimmune disease 10.1
61 creutzfeldt-jakob disease 10.1
62 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1
63 dementia, lewy body 10.1
64 inclusion body myositis 10.1
65 myositis 10.1
66 obsessive-compulsive disorder 10.1
67 paget disease of bone 3 10.1
68 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.1
69 schizophrenia 1 10.1
70 neural tube defects 10.1
71 autism 10.1
72 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.1
73 ataxia and polyneuropathy, adult-onset 10.1
74 apraxia of eyelid opening 10.1
75 aceruloplasminemia 10.1
76 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.1
77 ewing sarcoma 10.1
78 amyotrophic lateral sclerosis 12 10.1
79 amyotrophic lateral sclerosis 17 10.1
80 ceroid lipofuscinosis, neuronal, 11 10.1
81 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.1
82 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.1
83 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.1
84 chorea, childhood-onset, with psychomotor retardation 10.1
85 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.1
86 agraphia 10.1
87 stuttering 10.1
88 hydrocephalus 10.1
89 spastic quadriplegia 10.1
90 sarcoma 10.1
91 pertussis 10.1
92 respiratory failure 10.1
93 bronchopneumonia 10.1
94 choreatic disease 10.1
95 alexia 10.1
96 generalized anxiety disorder 10.1
97 cerebral degeneration 10.1
98 avoidant personality disorder 10.1
99 personality disorder 10.1
100 neuritis 10.1
101 mood disorder 10.1
102 temporal lobe epilepsy 10.1
103 liposarcoma 10.1
104 mammary paget's disease 10.1
105 echolalia 10.1
106 akinetic mutism 10.1
107 dysgraphia 10.1
108 ideomotor apraxia 10.1
109 prosopagnosia 10.1
110 prion disease 10.1
111 fundus dystrophy 10.1
112 bullous pemphigoid 10.1
113 amyloidosis 10.1
114 speech disorder 10.1
115 muscular dystrophy 10.1
116 47,xyy 10.1
117 lrrk2-related parkinson disease 10.1
118 mitochondrial disorders 10.1
119 adult neuronal ceroid lipofuscinosis 10.1
120 congenital hydrocephalus 10.1
121 juvenile amyotrophic lateral sclerosis 10.1
122 supranuclear ocular palsy 10.1
123 spasticity 10.1
124 traumatic brain injury 10.1
125 tremor 10.1
126 posttransplant acute limbic encephalitis 10.1
127 systemic autoimmune disease 10.1
128 classic progressive supranuclear palsy syndrome 10.1
129 progressive supranuclear palsy-corticobasal syndrome 10.1
130 motor stereotypies 10.1
131 inherited retinal disorder 10.1
132 posterior cortical atrophy 10.1
133 obsolete: argyrophilic grain disease 10.1
134 spinocerebellar ataxia 2 10.1
135 retinoblastoma 9.9
136 lymphoma, hodgkin, classic 9.9
137 alzheimer disease 9 9.9
138 spinocerebellar ataxia 36 9.9
139 helix syndrome 9.9
140 aspiration pneumonia 9.9
141 associative agnosia 9.9
142 phonagnosia 9.9
143 cardiac arrest 9.9
144 expressive language disorder 9.9
145 pica disease 9.9
146 lipid metabolism disorder 9.9
147 progressive muscular atrophy 9.9
148 agnosia 9.9
149 familial retinoblastoma 9.9
150 muscular atrophy 9.9
151 pathologic nystagmus 9.9
152 elective mutism 9.9
153 splenomegaly 9.9
154 dementia - subcortical 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 129, 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
Miglustat Approved Phase 4 72599-27-0 51634
Corticosterone Experimental Phase 4 50-22-6 5753
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
7 Serotonin Uptake Inhibitors Phase 4
8 Antidepressive Agents, Second-Generation Phase 4
9 Neurotransmitter Uptake Inhibitors Phase 4
10 Narcotics Phase 4
11 Narcotic Antagonists Phase 4
12 Antipyretics Phase 4
13 Analgesics, Opioid Phase 4
14 Fluorodeoxyglucose F18 Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Glycoside Hydrolase Inhibitors Phase 4
17 Cardiac Glycosides Phase 4
18 Anti-HIV Agents Phase 4
19 Hypoglycemic Agents Phase 4
20 Anti-Retroviral Agents Phase 4
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
Methylene blue Approved, Investigational Phase 3 61-73-4
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
30 Prednisolone acetate Phase 2, Phase 3
31 Methylprednisolone Acetate Phase 2, Phase 3
32 Antilymphocyte Serum Phase 2, Phase 3
33 Psychotropic Drugs Phase 3
34 Serotonin Agents Phase 3
35 Tranquilizing Agents Phase 3
36 Central Nervous System Depressants Phase 3
37 Antipsychotic Agents Phase 3
38 Serotonin Antagonists Phase 3
39 Serotonin 5-HT2 Receptor Antagonists Phase 3
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
Galantamine Approved Phase 2 357-70-0 9651
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
Memantine Approved, Investigational Phase 2 19982-08-2 4054
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
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
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
53 Catechol O-Methyltransferase Inhibitors Phase 2
54 Cardiotonic Agents Phase 2
55 Sympathomimetics Phase 2
56 Catechol Phase 2
57 Protective Agents Phase 2
58 Autonomic Agents Phase 2
59 Cholinesterase Inhibitors Phase 2
60 Cholinergic Agents Phase 2
61 Nootropic Agents Phase 2
62 Histone Deacetylase Inhibitors Phase 1, Phase 2
63 N-monoacetylcystine Phase 1, Phase 2
64 Antidotes Phase 1, Phase 2
65 Respiratory System Agents Phase 1, Phase 2
66 Free Radical Scavengers Phase 1, Phase 2
67 Antioxidants Phase 1, Phase 2
68 cysteine Phase 1, Phase 2
69 Expectorants Phase 1, Phase 2
70 Excitatory Amino Acid Antagonists Phase 2
71 Excitatory Amino Acids Phase 2
72 Antidepressive Agents Phase 2
73 Oxytocics Phase 2
74 Antimanic Agents Phase 2
75 leucine Phase 2
76 Liver Extracts Phase 1, Phase 2
Bilirubin Phase 1, Phase 2 635-65-4, 69853-43-6 5280352 21252250
78 Immunologic Factors Phase 2
79 Alkylating Agents Phase 2
80 Immunosuppressive Agents Phase 2
81 Antirheumatic Agents Phase 2
82 Antineoplastic Agents, Alkylating Phase 2
83 Antineoplastic Agents, Immunological Phase 2
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
88 Hormones Phase 1
89 Antihypertensive Agents Phase 1
90 Vasodilator Agents Phase 1
91 Calcium, Dietary Phase 1
92 calcium channel blockers Phase 1
93 Pharmaceutical Solutions Phase 1
94 Antibodies Phase 1
95 Immunoglobulins Phase 1
96 Antibodies, Monoclonal Phase 1
97 Adjuvants, Immunologic Phase 1
98 Gastrointestinal Agents Phase 1
99 Antacids Phase 1
100 Anti-Ulcer Agents Phase 1
101 Keyhole-limpet hemocyanin Phase 1
102 Vaccines Phase 1
103 Antiparasitic Agents Phase 1
104 Tin Fluorides Phase 1
Dextromethorphan Approved 125-71-3 5360696 5362449
Quinidine Approved, Investigational 56-54-2 441074
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
Cobalamin Experimental 13408-78-1 6857388
111 Flutemetamol Investigational 637003-10-2
112 Central Nervous System Stimulants
113 Radiation-Protective Agents
114 Anti-Bacterial Agents
115 Antibiotics, Antitubercular
116 polysaccharide-K
117 interferons
118 Interferon Inducers
119 Quinidine gluconate
120 Vitamins
121 Vitamin B 12
122 Vitamin B12
123 Calciferol
124 Dopamine agonists
125 Radiopharmaceuticals
126 Acidophilus
127 Bifidobacterium
128 Anesthetics
129 Deoxyglucose

Interventional clinical trials:

(showing 190, 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 Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Not yet recruiting NCT03910621 Phase 4 Miglustat
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 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
13 A Double-blind, Placebo-controlled, Relapse Prevention Study of Pimavanserin for the Treatment of Hallucinations and Delusions Associated With Dementia-related Psychosis Recruiting NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
14 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
15 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
16 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
17 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
18 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
19 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
20 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
21 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
22 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
23 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
24 A Study Evaluating the Imaging Characteristics of Florbetapir 18F (18F-AV-45) in Patients With Frontotemporal Dementia Compared to Patients With Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
25 Double Blind Trial of DC Polarization in FTD Completed NCT00117858 Phase 2
26 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
27 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
28 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
29 Direct Current Brain Polarization for Apraxia in Corticobasal Syndrome Completed NCT00273897 Phase 2
30 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
31 A Phase 2 Clinical Trial of 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 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
34 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
35 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
36 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
37 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)
38 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
39 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
40 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 Not yet recruiting NCT03987295 Phase 2 AL001
41 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
42 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT04046991 Phase 2
43 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
44 F 18 T807 Tau PET Imaging of Frontotemporal Dementia Withdrawn NCT02707978 Phase 2 F 18 T807
45 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
46 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
47 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
48 18F-AV-1451 PET Imaging in Subjects With Frontotemporal Dementia Completed NCT03040713 Phase 1 18F-AV-1451;18F-AV-45
49 A Phase I Dose Finding Study of Intranasal Oxytocin in Frontotemporal Dementia, Protocol # FTDOXY10EF Completed NCT01386333 Phase 1 oxytocin;Saline Nasal Mist
50 Direct Current Brain Polarization in Frontotemporal Dementia Completed NCT00077896 Phase 1
51 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)
52 An Open Label Dose Finding Study of Nimodipine for the Treatment of Progranulin Insufficiency From GRN Gene Mutations Completed NCT01835665 Phase 1 Nimodipine
53 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918
54 Amyloid-related Imaging Abnormalities (Microbleeds) in Atypical AD Completed NCT01723553 Phase 1 C-11 PiB
55 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
56 A First in Human Phase 1 Study in Healthy Volunteers and in Participants With Frontotemporal Dementia (FTD) With Granulin Mutation Recruiting NCT03636204 Phase 1
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 Recruiting NCT03658135 Phase 1 BIIB092
58 Alzheimer's PET Imaging in Racially/Ethnically Diverse Adults Recruiting NCT03706261 Phase 1 18F-MK-6240;18F-Florbetaben
59 Tau PET Imaging in Atypical Dementias Recruiting NCT03283449 Phase 1 18F-AV-1451
60 A 24-month Randomised Parallel Group Single-blinded Multi-centre Phase 1 Pilot Study of AADvac1 in Patients With Non Fluent Primary Progressive Aphasia Recruiting NCT03174886 Phase 1 AADvac1 40 µg;AADvac1 160 µg
61 PET Imaging of Neuroinflammation in Neurodegenerative Diseases Via a Novel TSPO Radioligand Recruiting NCT03958630 Phase 1 11C-ER176;11C-PIB
62 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
63 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
64 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 Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
65 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
66 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
67 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
68 Social Cognition in Ageing and in Frontotemporal Lobar Degeneration (Frontotemporal Dementia and Semantic Dementia): a Cognitive and Neuroimaging Study Unknown status NCT01962064
69 Identification of New Genes Causing Frontotemporal Lobar Degeneration by Whole Exome Sequencing and Characterization of the Associated Phenotypes Unknown status NCT02363062
70 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. Unknown status NCT02333942
71 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
72 Study of Social Behavior and Emotion in Frontotemporal Dementia, Alzheimer's Disease and Controls Unknown status NCT01147679
73 Evaluation and Characterization of Behavioural Disorders and Dementias by the Behavioural Dysexecutive Syndrome Inventory (BDSI) Unknown status NCT02819700
74 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
75 Biodistribution of 11C-PIB PET in Alzheimer's Disease, Frontotemporal Dementia, and Cognitively Normal Elderly Unknown status NCT00811122 Early Phase 1
76 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
77 Predictors of Cognitive Decline in Normal Aging Unknown status NCT00094939
78 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
79 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
80 Treatment Study for Frontotemporal Dementia Completed NCT00088751
81 PET Evaluation of Brain Peripheral Benzodiazepine Receptors Using [11C]PBR28 in Neurological Disorders Completed NCT00613119
82 Measurement of P-Glycoprotein Function in Alzheimer Disease, Parkinson Disease, and Frontotemporal Dementia Using Positron Emission Tomography Completed NCT00677885
83 Psycho-behavioral Disorders in Frontotemporal Lobar Degeneration: Validation of a Quantification and Follow-up Scale Completed NCT02889601
84 Assessment of Social-emotional Functioning in Stroke, Frontotemporal Dementia, Alzheimer and Parkinson Diseases Completed NCT01339130
85 Neuropsychological and Anatomical Study of Concept Formation in Frontal Patients Completed NCT01100281
86 Pilot Study of EEG and Cerebral Blood Flow Biofeedback Training in Remediating Cognitive and Behavioral Deficits in Adults With a Dementing Illness. Completed NCT01168466
87 University of California, San Francisco (UCSF) and University of Nebraska Medical Center (UNMC) Care Ecosystem Completed NCT02213458
88 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
89 Investigation of the Effects of Intranasal Oxytocin on Cognition and Emotion Processing in Frontotemporal Dementia Completed NCT01002300 intranasal oxytocin
90 Efficacy of Web-Based Social-Cognitive Interventions in Right Hemisphere Stroke and Frontotemporal Dementia Completed NCT02506036
91 A Non-invasive, Multimodal Approach to Restore Functional Networks and Cognition in Alzheimer's Disease and Frontotemporal Dementia Completed NCT03422250
92 Validation Trial for a Multi-parameter Diagnostic Blood Test for the Diagnosis of Alzheimer's Disease Completed NCT02409030
93 SPECT/CT in the Diagnosis of Dementia Completed NCT01112501
94 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
95 Virtual Physiological Human (VPH) Dementia Research Enabled by IT - Prospective Cohort Kuopio Completed NCT02050464
96 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
97 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
98 Investigating the Use of Transcranial Magnetic Stimulation (TMS) for Primary Progressive Apraxia of Speech (PPAOS) Completed NCT03028324
99 Slowing Language Decline in Progressive Aphasia Through Language Rehabilitation: Treatment and Neuroimaging Study Completed NCT00957710
100 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
101 P75NTR, Diagnostic Biomarker for Alzheimer's Disease: Quantification Study in Cerebrospinal Fluid Completed NCT02946710
102 Evaluation of a Handheld Event Related Potential (ERP)/Quantitative Electroencephalography (qEEG) System (COGNISION™) as a Useful Cognitive Biomarker for Alzheimer's Disease. Completed NCT00938665
103 Memory Disorders Registry Completed NCT00654563
104 Retrospective Analysis of the Comparative Effectiveness of MCI and Dementia Treatment Protocols in a Community-based Specialty Dementia Practice Completed NCT02860338
105 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
106 Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS Completed NCT02686268
107 Preventing Language Decline in Dementia Completed NCT02541097
108 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
109 The Role of Central and Systemic Inflammation and Aβ-specific Immune Responses in Early AD Completed NCT01775696
110 Multimodal Assessment For Predicting Specific Pathological Substrate in Frontotemporal Lobar Degeneration Recruiting NCT02964637
111 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
112 Rare Diseases Clinical Research Network Advancing Research and Treatment for Frontotemporal Lobar Degeneration [ARTFL]: Research Projects 1 & 2 Recruiting NCT02365922
113 Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Recruiting NCT02590276
114 Multidisciplinary and Personalized Care of Behavioral Disorders in Frontotemporal Lobar Degeneration. Recruiting NCT03606798
115 Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers Recruiting NCT04014673
116 Investigating Complex Neurodegenerative Disorders Related to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Recruiting NCT03225144
117 Hippocampal Sclerosis and Amnesia Not Due to Alzheimer's Disease Recruiting NCT02576821
118 Language in Primary Progressive Aphasia Recruiting NCT00537004
119 Rehabilitative Trial for the Recovery of Neurophysiological Parameters in Progranulin Mutation Carriers Through the Use of Transcranial Direct Current Stimulation (tDCS) Recruiting NCT02999282
120 Patients With Alzheimer's Disease or Related Youth Disease Recruiting NCT03508024
121 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
122 Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects Recruiting NCT02372773
123 Organisation du Cortex préfrontal ventrolatéral Pour l'Analogie: Approche Bimodale Chez le Sujet Sain et Chez le Patient Ayant un Syndrome Frontal. Recruiting NCT02236832
124 Molecular Neuroimaging of Neuroinflammation in Neurodegenerative Dementias Recruiting NCT02945774
125 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430
126 Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism. Recruiting NCT00821132
127 VOICE Of bvFTD [Voices Of Individuals: Challenges and Experiences Of bvFTD] Recruiting NCT04060082
128 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
129 Human CNS Tau Kinetics in Tauopathies Recruiting NCT03545126
130 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
131 Communication Bridge: A Person-centered Internet-based Intervention for Individuals With Primary Progressive Aphasia Recruiting NCT03371706
132 Self-consciousness in Dementia Recruiting NCT01782248
133 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
134 The Four-Repeat Tauopathy Neuroimaging Initiative Recruiting NCT02966145
135 Evaluation de l'Effet de la tDCS Sur Les Fonctions Cognitives de Patients Souffrant de Maladie d'Alzheimer et Maladies apparentées au Stade léger Recruiting NCT02873546
136 Clinical Procedures to Support Research (CAPTURE) Recruiting NCT03489278
137 Baseline Performance Predicts tDCS-mediated Improvements in Language Symptoms in Primary Progressive Aphasia Recruiting NCT02928848
138 Multimodal Ocular Imaging in Neurodegeneration Recruiting NCT03699644
139 Developing and Evaluating In-Home Supportive Technology for Dementia Caregivers Recruiting NCT03828383
140 TRIAL READY (Clinical Trial Readiness) Recruiting NCT03912987
141 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
142 Transcranial Magnetic Stimulation in Primary Progressive Aphasia Recruiting NCT03580954
143 Connectomics in Psychiatric Classification Recruiting NCT03967535
144 The Comprehensive Assessment of Neurodegeneration and Dementia Study Recruiting NCT03402919
145 The Neural Basis for Frontotemporal Degeneration Recruiting NCT03452956
146 A Multi-centre Proof-of-performance Clinical Study to Validate Blood-based Biomarker Candidates for the Diagnosis of Alzheimer's Disease Recruiting NCT03030586
147 Rehabilitating and Decelerating Language Loss in Primary Progressive Aphasia With Transcranial Direct Current Stimulation (tDCS) Plus Language Therapy Recruiting NCT03728582
148 Amyotrophic Lateral Sclerosis (ALS) Families Project Recruiting NCT03865420
149 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
150 RHAPSODY-plus: Online Counseling for Family Caregivers of Patients With Young Onset Dementia Recruiting NCT03923517
151 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Recruiting NCT03883750
152 Speech Analysis in ALS Patients With and Without Cognitive Abnormalities: Evaluation of Sensitivity and Disease Progression Recruiting NCT03868345
153 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
154 The Neurobiology of Two Distinct Types of Progressive Apraxia of Speech Recruiting NCT03313011
155 Diagnosis of Alzheimer's Disease Using Event Related Potentials Recruiting NCT02957227
156 Rehabilitation and Prophylaxis of Anomia in Primary Progressive Aphasia Recruiting NCT02675270
157 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
158 Probiotics in Dementia Recruiting NCT03847714
159 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Recruiting NCT01306604
160 Smell, Voice and Nasal Swabs as Markers for Neuro-degenerative Disorders Recruiting NCT03299062
161 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
162 DC Longitudinal Study on Aging and Specimen Bank Recruiting NCT03702907
163 Combining tDCS and Neurorehabilitation to Treat Age-related Deficits of Mobility and Cognition: UPfront Walking Study Recruiting NCT03122236
164 Neuromodulation of Language and Memory Networks in Alzheimer's Disease Recruiting NCT04045990
165 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
166 Pilot Study of Repetitive Transcranial Magnetic Stimulation in Patients With Primary Progressive Aphasia. Recruiting NCT03406429 Early Phase 1
167 Effects of Transcranial Direct Current Stimulation (tDCS) in Spoken and Written Production in Primary Progressive Aphasia (PPA) Recruiting NCT02606422
168 The Swedish BioFINDER 2 Study Recruiting NCT03174938
169 Communication Bridge Speech Therapy Research Study: Using Internet-Based Speech Therapy to Improve Quality of Life and Access to Care Active, not recruiting NCT02439853
170 Natural History and Biomarkers of C9ORF72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Active, not recruiting NCT01925196
171 A Study to Model Rates of Change on Neuropsychological Test Measures in Subjects Diagnosed With Behavioral Variant Frontotemporal Dementia and Healthy Subjects Active, not recruiting NCT03088956
172 Phase 0 Evaluation of Clinical and Neuroimage (18F-PM-PBB3 PET) Study in Tauopathy Including Alzheimer's Disease, Other Dementias and Normal Controls Active, not recruiting NCT03625128 Early Phase 1 F-18
173 The Gut-Brain Axis in Dementia: Biomarker and Novel Intervention Strategies Active, not recruiting NCT03167983
174 Presymptomatic Neuromuscular Junction Defects and Compensatory Mechanisms in Amyotrophic Lateral Sclerosis (ALS) Active, not recruiting NCT03573466
175 Socially Inappropriate Behaviour in People With First Episode Psychosis: A Caregivers' Perspective Active, not recruiting NCT03501160
176 Imaging Tau Deposition in the Brain of Elderly Subjects Enrolling by invitation NCT02958670
177 EEG Classification System for Dementia Enrolling by invitation NCT02273921
178 Assessment of Hyperphosphorylated Tau PET Binding in Primary Progressive Aphasia Enrolling by invitation NCT02736695 F-18 AV 1451
179 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
180 Biomarkers in Neurodegenerative Diseases Not yet recruiting NCT04055532
181 Investigation of the Therapeutic Value of Transcranial Stimulation With Direct Current on Language Disorders in Semantic Dementia Not yet recruiting NCT03481933
182 Repetitive Transcranial Magnetic Stimulation for the Treatment of Primary Progressive Aphasia: A Randomized Controlled Tria Not yet recruiting NCT03448133
183 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
184 Impact of Hyponatremia on Muscle Strength, Gait and Balance, and Cognitive Function: a Prospective Observational Study Not yet recruiting NCT04020926
185 Rehabilitating Verbal Short-term Memory (STM) in Primary Progressive Aphasia (PPA) Using Transcranial Direct Current Stimulation (tDCS) Not yet recruiting NCT03887481
186 Use Of Autologous Stem Cell Use In Neurological Non-neoplastic Disorders And Disease Not yet recruiting NCT03297177
187 Regional Cerebral Utilization of Glucose in Patients With a Diagnosis of Frontal Lobe Dementia, Atypical Parkinsonian Disorder, and Other Basal Ganglia Disorders Terminated NCT00001178
188 Challenges of Living With Frontotemporal Dementia: The Perspective of the Affected Individual Terminated NCT01738386
189 Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358
190 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, Liver, Bone, Bone Marrow, Cortex

Publications for Grn-Related Frontotemporal Dementia

Articles related to Grn-Related Frontotemporal Dementia:

(showing 83, show less)
# Title Authors PMID Year
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 38 4
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. 38 4
16983685 2006
Fluorodeoxyglucose positron emission tomography in semantic dementia after 6 months of memantine: an open-label pilot study. 4
22674572 2013
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. 4
22344582 2012
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. 4
22366793 2012
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype. 4
22072213 2012
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 4
21944778 2011
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 4
21944779 2011
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. 4
21810890 2011
A harmonized classification system for FTLD-TDP pathology. 4
21644037 2011
Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. 4
21753165 2011
TDP-43: multiple targets, multiple disease mechanisms? 4
21445063 2011
Classification of primary progressive aphasia and its variants. 4
21325651 2011
rs5848 polymorphism and serum progranulin level. 4
21047645 2011
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. 4
20154673 2010
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. 4
20142525 2010
Low serum progranulin predicts the presence of mutations: a prospective study. 4
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. 4
19683260 2009
The granulin gene family: from cancer to dementia. 4
19795409 2009
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. 4
19858458 2009
An open-label study of memantine treatment in 3 subtypes of frontotemporal lobar degeneration. 4
19812461 2009
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. 4
19101631 2009
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. 4
19125255 2009
Stimulant treatment of frontotemporal dementia in 8 patients. 4
19203481 2008
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. 4
18723524 2008
Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family. 4
19012866 2008
Structural determinants of the cellular localization and shuttling of TDP-43. 4
18957508 2008
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. 4
18768919 2008
A 6-month, open-label study of memantine in patients with frontotemporal dementia. 4
18213609 2008
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. 4
18234697 2008
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. 4
18245784 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. 4
18192287 2008
Galantamine in frontotemporal dementia and primary progressive aphasia. 4
18196898 2008
Progranulin: normal function and role in neurodegeneration. 4
17953663 2008
Progranulin locus deletion in frontotemporal dementia. 4
18157829 2008
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 4
17826340 2007
Clinicopathologic correlation in PGRN mutations. 4
17522386 2007
Progranulin null mutations in both sporadic and familial frontotemporal dementia. 4
17436289 2007
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 4
17620546 2007
The neuropathology and clinical phenotype of FTD with progranulin mutations. 4
17458552 2007
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. 4
17371905 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. 4
17345602 2007
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. 4
17353379 2007
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 4
17202431 2007
Frontotemporal dementia: recommendations for therapeutic studies, designs, and approaches. 4
17469694 2007
Progranulin mutations in Dutch familial frontotemporal lobar degeneration. 4
17228326 2007
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. 4
17278999 2007
Preliminary findings: behavioral worsening on donepezil in patients with frontotemporal dementia. 4
17194818 2007
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. 4
17210807 2007
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 4
17084815 2006
Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 4
17168647 2006
Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. 4
17003069 2006
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. 4
17030534 2006
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. 4
17071926 2006
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 4
16950801 2006
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 4
17023659 2006
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). 4
16807408 2006
Characteristics of frontotemporal dementia patients with a Progranulin mutation. 4
16983677 2006
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 4
16862115 2006
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 4
16862116 2006
Methylphenidate ('Ritalin') can ameliorate abnormal risk-taking behavior in the frontal variant of frontotemporal dementia. 4
16160709 2006
Genetic variability in CHMP2B and frontotemporal dementia. 4
16954699 2006
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 4
16041373 2005
The natural history of temporal variant frontotemporal dementia. 4
15851728 2005
Paroxetine does not improve symptoms and impairs cognition in frontotemporal dementia: a double-blind randomized controlled trial. 4
14666399 2004
Frontotemporal dementia: a randomised, controlled trial with trazodone. 4
15178953 2004
Rivastigmine in frontotemporal dementia: an open-label study. 4
15554751 2004
Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. 4
12928786 2003
Progranulin (granulin-epithelin precursor, PC-cell derived growth factor, acrogranin) in proliferation and tumorigenesis. 4
12973694 2003
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. 4
12876142 2003
Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. 4
12833363 2003
Epidemiology and genetics of frontotemporal dementia/Pick's disease. 4
12833366 2003
Laboratory investigations and treatment in frontotemporal dementia. 4
12833367 2003
Frontotemporal dementia: paroxetine as a possible treatment of behavior symptoms. A randomized, controlled, open 14-month study. 4
12464713 2003
Primary progressive aphasia. 4
11310619 2001
Inheritance of frontotemporal dementia. 4
10404983 1999
Granulins: the structure and function of an emerging family of growth factors. 4
9771457 1998
Effect of TMEM106B polymorphism on functional network connectivity in asymptomatic GRN mutation carriers. 38
24343233 2014
Multimodal FMRI resting-state functional connectivity in granulin mutations: the case of fronto-parietal dementia. 38
25188321 2014
Corticobasal syndrome associated with the A9D Progranulin mutation. 38
17917583 2007
GRN-Related Frontotemporal Dementia 38
20301545 2007
Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia. 38
11220736 2001
Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. 38
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
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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