MCID: GRN059
MIFTS: 14

Grn Frontotemporal Dementia

Categories: Mental diseases

Aliases & Classifications for Grn Frontotemporal Dementia

MalaCards integrated aliases for Grn Frontotemporal Dementia:

Name: Grn Frontotemporal Dementia 24
Ftd-Grn 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance of grn-ftd is about 90% by age 75 years, but apparent reduced penetrance has also been observed on occasion [cruts et al 2006, gass et al 2006]....

Classifications:



Summaries for Grn Frontotemporal Dementia

MalaCards based summary : Grn Frontotemporal Dementia, also known as ftd-grn, is related to grn-related frontotemporal lobar degeneration and frontotemporal dementia. An important gene associated with Grn Frontotemporal Dementia is GRN (Granulin Precursor). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include brain and temporal lobe.

GeneReviews: NBK1371

Related Diseases for Grn Frontotemporal Dementia

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 grn-related frontotemporal lobar degeneration 11.6
2 frontotemporal dementia 10.3
3 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.3
4 aphasia 10.3
5 apraxia 10.3
6 dementia 10.3
7 movement disease 10.3
8 dystonia 10.3
9 eating disorder 10.3
10 corticobasal degeneration 10.3
11 progressive non-fluent aphasia 10.3
12 semantic dementia 10.3
13 dysphagia 10.3
14 myoclonus 10.3

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



Diseases related to Grn Frontotemporal Dementia

Symptoms & Phenotypes for Grn Frontotemporal Dementia

Drugs & Therapeutics for Grn Frontotemporal Dementia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1/2 Ascending Dose Study to Evaluate the Safety and Effects on Progranulin Levels of PR006A in Patients With Fronto-Temporal Dementia With Progranulin Mutations (FTD-GRN) Not yet recruiting NCT04408625 Phase 1, Phase 2
2 A First in Human Phase 1 Study in Healthy Volunteers and in Participants With Frontotemporal Dementia (FTD) With Granulin Mutation Recruiting NCT03636204 Phase 1

Search NIH Clinical Center for Grn Frontotemporal Dementia

Genetic Tests for Grn Frontotemporal Dementia

Anatomical Context for Grn Frontotemporal Dementia

MalaCards organs/tissues related to Grn Frontotemporal Dementia:

40
Brain, Temporal Lobe

Publications for Grn Frontotemporal Dementia

Articles related to Grn Frontotemporal Dementia:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity. 24
31600775 2020
2
Neuronal ceroid lipofuscinosis type-11 in an adolescent. 24
30922528 2019
3
Progranulin deficiency leads to reduced glucocerebrosidase activity. 24
31291241 2019
4
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. 24
29724592 2018
5
Progranulin: Functions and neurologic correlations. 24
29263224 2018
6
GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases. 24
28153380 2017
7
Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations. 24
28541286 2017
8
Timing, rates and spectra of human germline mutation. 24
26656846 2016
9
Memantine for the treatment of frontotemporal dementia: a meta-analysis. 24
26648724 2015
10
Lateral Temporal Lobe: An Early Imaging Marker of the Presymptomatic GRN Disease? 24
26401709 2015
11
Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice. 24
25022663 2014
12
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration. 24
24469240 2014
13
Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia. 24
23904625 2013
14
Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. 24
24005336 2013
15
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 24
23338682 2013
16
Fluorodeoxyglucose positron emission tomography in semantic dementia after 6 months of memantine: an open-label pilot study. 24
22674572 2013
17
Criteria for the diagnosis of corticobasal degeneration. 24
23359374 2013
18
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 24
22608501 2012
19
The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype. 24
22072213 2012
20
Phenotypic signatures of genetic frontotemporal dementia. 24
21986680 2011
21
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. 24
21810890 2011
22
Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. 24
21753165 2011
23
A harmonized classification system for FTLD-TDP pathology. 24
21644037 2011
24
TDP-43: multiple targets, multiple disease mechanisms? 24
21445063 2011
25
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 24
21482928 2011
26
Classification of primary progressive aphasia and its variants. 24
21325651 2011
27
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. 24
20142525 2010
28
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
29
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. 24
19858458 2009
30
An open-label study of memantine treatment in 3 subtypes of frontotemporal lobar degeneration. 24
19812461 2009
31
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. 24
19101631 2009
32
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. 24
19158106 2009
33
Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. 24
19125255 2009
34
Stimulant treatment of frontotemporal dementia in 8 patients. 24
19203481 2008
35
Structural determinants of the cellular localization and shuttling of TDP-43. 24
18957508 2008
36
A 6-month, open-label study of memantine in patients with frontotemporal dementia. 24
18213609 2008
37
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. 24
18479928 2008
38
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. 24
18245784 2008
39
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
40
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. 24
18234697 2008
41
Progranulin: normal function and role in neurodegeneration. 24
17953663 2008
42
Progranulin locus deletion in frontotemporal dementia. 24
18157829 2008
43
Galantamine in frontotemporal dementia and primary progressive aphasia. 24
18196898 2008
44
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 24
17826340 2007
45
Clinicopathologic correlation in PGRN mutations. 24
17522386 2007
46
Progranulin null mutations in both sporadic and familial frontotemporal dementia. 24
17436289 2007
47
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 24
17620546 2007
48
The neuropathology and clinical phenotype of FTD with progranulin mutations. 24
17458552 2007
49
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. 24
17371905 2007
50
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. 24
17345602 2007

Variations for Grn Frontotemporal Dementia

Expression for Grn Frontotemporal Dementia

Search GEO for disease gene expression data for Grn Frontotemporal Dementia.

Pathways for Grn Frontotemporal Dementia

GO Terms for Grn Frontotemporal Dementia

Sources for Grn Frontotemporal Dementia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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