FTLD
MCID: GRN014
MIFTS: 40

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

Characteristics:

GeneReviews:

24
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....

Classifications:



External Ids:

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:

(show top 50) (show all 154)
# 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

Comorbidity relations with Grn-Related Frontotemporal Dementia via Phenotypic Disease Network (PDN):


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):

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
4
Miglustat Approved Phase 4 72599-27-0 51634
5
Corticosterone Experimental Phase 4 50-22-6 5753
6
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
21
tannic acid Approved Phase 3 1401-55-4
22
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
23
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
24
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
25
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
26
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
27
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
28
Methylene blue Approved, Investigational Phase 3 61-73-4
29
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
40
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
41
Galantamine Approved Phase 2 357-70-0 9651
42
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
43
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
44
Memantine Approved, Investigational Phase 2 19982-08-2 4054
45
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
46
Lithium carbonate Approved Phase 2 554-13-2
47
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
48
Busulfan Approved, Investigational Phase 2 55-98-1 2478
49
alemtuzumab Approved, Investigational Phase 2 216503-57-0
50
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750

Interventional clinical trials:

(show top 50) (show all 190)
# 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

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:

41
Brain, Testes, Liver, Bone, Bone Marrow, Cortex

Publications for Grn-Related Frontotemporal Dementia

Articles related to Grn-Related Frontotemporal Dementia:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 38 4
17334266 2007
2
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
3
Fluorodeoxyglucose positron emission tomography in semantic dementia after 6 months of memantine: an open-label pilot study. 4
22674572 2013
4
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. 4
22344582 2012
5
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. 4
22366793 2012
6
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype. 4
22072213 2012
7
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. 4
21944778 2011
8
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 4
21944779 2011
9
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. 4
21810890 2011
10
A harmonized classification system for FTLD-TDP pathology. 4
21644037 2011
11
Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. 4
21753165 2011
12
TDP-43: multiple targets, multiple disease mechanisms? 4
21445063 2011
13
Classification of primary progressive aphasia and its variants. 4
21325651 2011
14
rs5848 polymorphism and serum progranulin level. 4
21047645 2011
15
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. 4
20154673 2010
16
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. 4
20142525 2010
17
Low serum progranulin predicts the presence of mutations: a prospective study. 4
20858962 2010
18
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
19
The granulin gene family: from cancer to dementia. 4
19795409 2009
20
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. 4
19858458 2009
21
An open-label study of memantine treatment in 3 subtypes of frontotemporal lobar degeneration. 4
19812461 2009
22
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. 4
19101631 2009
23
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. 4
19125255 2009
24
Stimulant treatment of frontotemporal dementia in 8 patients. 4
19203481 2008
25
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. 4
18723524 2008
26
Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family. 4
19012866 2008
27
Structural determinants of the cellular localization and shuttling of TDP-43. 4
18957508 2008
28
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. 4
18768919 2008
29
A 6-month, open-label study of memantine in patients with frontotemporal dementia. 4
18213609 2008
30
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. 4
18234697 2008
31
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. 4
18245784 2008
32
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
33
Galantamine in frontotemporal dementia and primary progressive aphasia. 4
18196898 2008
34
Progranulin: normal function and role in neurodegeneration. 4
17953663 2008
35
Progranulin locus deletion in frontotemporal dementia. 4
18157829 2008
36
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 4
17826340 2007
37
Clinicopathologic correlation in PGRN mutations. 4
17522386 2007
38
Progranulin null mutations in both sporadic and familial frontotemporal dementia. 4
17436289 2007
39
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 4
17620546 2007
40
The neuropathology and clinical phenotype of FTD with progranulin mutations. 4
17458552 2007
41
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. 4
17371905 2007
42
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. 4
17345602 2007
43
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. 4
17353379 2007
44
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 4
17202431 2007
45
Frontotemporal dementia: recommendations for therapeutic studies, designs, and approaches. 4
17469694 2007
46
Progranulin mutations in Dutch familial frontotemporal lobar degeneration. 4
17228326 2007
47
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. 4
17278999 2007
48
Preliminary findings: behavioral worsening on donepezil in patients with frontotemporal dementia. 4
17194818 2007
49
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. 4
17210807 2007
50
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 4
17084815 2006

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
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....