|
Alzheimer's Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Transmembrane protein 106B gene (TMEM106B) variability and influence on progranulin plasma levels in patients with Alzheimer's disease.
|
25114081 |
2015 |
|
Alzheimer's Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The results suggest that a genetic variant in GRN leading to decreased levels of progranulin may be a risk factor for HpScl in AD, while its role in TDP-43 immunoreactivity in AD remains less certain.
|
20197700 |
2010 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
A mutation scanning of exons and flanking regions of PGRN was carried out in 120 patients with sporadic frontotemporal lobar degeneration and 145 with sporadic AD.
|
18752597 |
2008 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Participants from the Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n = 1,239), with both MRI scans and genotype data, were used to assess the association between brain atrophy and previously identified HS-Aging risk SNPs in the following genes: GRN, TMEM106B, ABCC9, and KCNMB2 (minor allele frequency for each is >30%).
|
27003218 |
2016 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
LHGDN |
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
|
18565828 |
2008 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
We conclude that circulating GRN is a promising, nonintrusive biomarker that warrants screening in both patients with dementia of the Alzheimer type and people with mild cognitive impairment; specifically for, but not limited to, those that have a positive family history of neurodegenerative disease.
|
20387302 |
2010 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454).
|
28189700 |
2017 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Progranulin plasma levels were analyzed in a variety of FTLD phenotypes (n = 71), dementia of the Alzheimer type (DAT) (n = 22) and probable Lewy body dementia (n = 8), both latter groups presented with asymmetric perisylvian atrophy.
|
23724906 |
2013 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Progranulin has received attention due to its role in neurodegeneration, where mutation of a single copy of GRN, the gene encoding progranulin, results in frontotemporal dementia, whereas viral delivery of progranulin to the brains of mice exhibiting Parkinson's or Alzheimer's disease phenotypes inhibits the progression of the neurodegenerative phenotypes.
|
29956265 |
2018 |
|
Alzheimer's Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Here, we describe the application of PGRN gene transfer using in vivo delivery of lentiviral expression vectors in a transgenic mouse model of AD.
|
28837568 |
2017 |
|
Alzheimer's Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Due to the functions of PGRN in neuronal survival and the clinicopathological overlaps between FTD and other dementias it is likely that reduced PGRN expression is associated with the progression of other neurodegenerative brain diseases including Alzheimer's disease.
|
17168647 |
2006 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
CSF levels of routine AD biomarkers (phosphorylated tau (p-tau<sub>181</sub>), total tau (t-tau), and amyloid-beta (Aβ)<sub>1-42</sub>) and neurofilament proteins, as well as progranulin levels in both CSF and serum were quantified in definite FTLD (n = 46), clinical AD (n = 45), and cognitively healthy controls (n = 20).
|
29559004 |
2018 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
In conclusion, we demonstrate that, although CSF PGRN is not a diagnostic biomarker for AD, it may together with sTREM2 reflect microglial activation during the disease.
|
30482868 |
2018 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, HDDD1 is an FTLD-U caused by a PGRN mutation and is neuropathologically heterogeneous with Alzheimer disease as a common comorbidity.
|
17334266 |
2007 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Alzheimer's Disease
|
0.200 |
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 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified 9 potentially pathogenic mutations in the AD-causal genes APP, PSEN1, PSEN2, and 6 mutations in a group of non-AD dementia-causal genes including the FTD-causal gene GRN and the VaD-causal gene NOTCH3.
|
30954774 |
2019 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
C9orf72 repeat expansions were present in 0.4 % of AD and in 9.9 % of FTD patients, whereas MAPT and GRN mutations both were present in 0.4 % in AD patients, and in 1.4 % resp.2.7 % in FTD patients.
|
25108559 |
2014 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease.
|
18551524 |
2008 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To describe the prevalence of systemic autoimmune disease in semantic variant primary progressive aphasia (svPPA), a clinical cohort, and in progranulin (PGRN) mutation carriers compared with neurologically healthy normal controls (NC) and Alzheimer's disease (AD) as dementia controls.
|
23543794 |
2013 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Because cellular and animal data indicate that increasing PGRN can reverse phenotypes of both FTD and AD, modulating PGRN level has been proposed as a therapeutic strategy for both diseases.
|
28069809 |
2017 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of GRN were also identified, but their effects are not completely clear, in particular unanswered is the question of what neuropathology they elicit, also considering that their occurrence has been reported in patients with typical clinical features of Alzheimer disease.
|
27997711 |
2018 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
|
18565828 |
2008 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
In conclusion, our data suggest that PGRN may not be a good biomarker for AD; moreover, gender may influence the plasma PGRN levels of AD patients.
|
23396349 |
2013 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Defective lysosomal function defines many neurodegenerative diseases, such as neuronal ceroid lipofuscinoses (NCL) and Niemann-Pick type C (NPC), and is implicated in Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD-TDP) with progranulin (PGRN) deficiency.
|
28903038 |
2017 |