Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identify two gene coexpression modules that are preserved in mice harboring mutations in MAPT, GRN and other dementia mutations on diverse genetic backgrounds.
|
30510257 |
2019 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in progranulin (GRN) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal syndrome (CBS) and Alzheimer-type dementia (AD-type dementia).
|
30921613 |
2019 |
Presenile dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both patients were examined by neuroimaging, neuropsychological assessment and genetic analysis of GRN and other genes associated with dementia.
|
27997711 |
2018 |
Presenile dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Progranulin as a therapeutic target for dementia.
|
29889573 |
2018 |
Presenile dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We show that PGRN haploinsufficiency leads to NCL-like features in humans, some occurring before dementia onset.
|
28404863 |
2017 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progranulin mutation screening is suggested in cases of CBS, even in the absence of positive family history for dementia and/or movement disorders.
|
27163816 |
2016 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our report extends the evidence for genetic and phenotypic variability in FTLD disorders, and detects a novel pathogenic GRN mutation, carriers of which could eventually help to evaluate the efficacy of different treatments at early stages of dementia.
|
26961809 |
2016 |
Presenile dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The GRN gene should be analyzed in patients with PCA, particularly when the damage progresses to anterior cerebral regions and a family history of dementia is present.
|
25546130 |
2015 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
Presenile dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The discovery that mutations in the gene encoding for progranulin (GRN) cause frontotemporal lobar degeneration (FTLD) and other neurodegenerative diseases leading to dementia has brought renewed interest in progranulin and its functions in the central nervous system.
|
24018267 |
2014 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We used a comprehensive neuropsychological battery to investigate whether early cognitive changes could be detected in GRN mutation carriers before dementia onset.
|
24993774 |
2014 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers.
|
24005336 |
2013 |
Presenile dementia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy.
|
23724906 |
2013 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of late onset frontotemporal dementia carrying the g.1977_1980 delCACT (Thr272fs) mutation in progranulin (GRN) gene, characterized by a positive family history for dementia and a clinical phenotype resembling dementia with Lewy bodies.
|
23478307 |
2013 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia.
|
22312439 |
2012 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The wedding between progranulin and brain was celebrated in 2006 with the involvement of progranulin gene (GRN) in Frontotemporal lobar degeneration (FTLD), the most common form of early-onset dementia: up to date, 75 mutations have been detected in FTLD patients as well as in patients with widely variable clinical phenotypes.
|
22348647 |
2012 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied the clinical and pathologic features of HpScl in 205 consecutive patients with dementia who came to autopsy from 1997 to 2008, focusing on associations with TAR DNA-binding protein 43 (TDP-43) pathology and allelic variants in the progranulin (GRN) and apolipoprotein E (APOE).
|
21346515 |
2012 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in GRN are a major cause of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP), the second most common early-onset dementia.
|
22608501 |
2012 |
Presenile dementia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Being predictive for GRN null mutations, plasma progranulin dosage should be included in diagnostic work-up of dementia.
|
20930271 |
2011 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.
|
21677378 |
2011 |
Presenile dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Once a cure for GRN-related neurodegeneration becomes available, this biomarker will be an important tool in the effort to personalize treatment of dementia.
|
20387302 |
2010 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, autosomal-dominant dementia and Parkinsonism has been shown to be caused by mutations in the MAPT and PGRN genes.
|
20187245 |
2010 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progranulin mutations were identified as a major cause of FTLD and a potential susceptibility factor for other forms of dementia.
|
19640594 |
2009 |
Presenile dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
An autosomal dominant mutation in GRN, the gene for PGRN, leads to neuronal atrophy in the frontal and temporal lobes, resulting in the disease frontotemporal lobar dementia.
|
19795409 |
2009 |
Presenile dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in progranulin (GRN) cause ubiquitin- and TAR DNA-binding protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive neurodegenerative disease affecting approximately 10% of early-onset dementia patients.
|
18723524 |
2008 |