|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
Biomarker
|
disease |
BEFREE |
Alzheimer disease is due to increased amyloid-β coupled with low progranulin.
|
30336989 |
2018 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PGRN mutations were also identified in other neurodegenerative brain diseases such as amyotrophic lateral sclerosis and Alzheimer disease, though their biologic contribution to these diseases remains elusive.
|
18838661 |
2008 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
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.
|
19683260 |
2009 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
GRN mutation cases are quantitatively different from sporadic cases, while cases with associated HS and AD have increased densities of dystrophic neurites and abnormally enlarged neurones respectively.
|
21696412 |
2012 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Progranulin (PGRN) mutations are associated with different clinical phenotypes, including frontotemporal lobar degeneration (FTLD), corticobasal syndrome (CBS) and Alzheimer's disease (AD).
|
24022032 |
2014 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models.
|
25261995 |
2014 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice.
|
28845019 |
2018 |
|
Alzheimer's Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Progranulin expression was 13% higher in AD and MCI patients compared with controls in the UCSF-MAC cohort (<i>F</i><sub>2,505</sub> = 10.41, <i>P</i> = 3.72*10<sup>-5</sup>).
|
29761124 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
rs5848 variant of progranulin gene is a risk of Alzheimer's disease in the Taiwanese population.
|
21212639 |
2011 |
|
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 |
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 |
Although CSF sTREM2 levels are not raised in FTD overall or in a particular clinical subtype of FTD, levels are raised in familial FTD associated with GRN mutations and in FTD syndromes due to AD pathology.
|
30111356 |
2018 |
|
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 |
Because the penetrance rate of the clinical phenotype of carriers of GRN mutations is age-dependent, further research is required to investigate the role of co-occurring age-related pathologies such as AD, PART, and cerebral small vessel disease.
|
29370838 |
2018 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
By understanding PGRN in a wider context, we may be better able to depict its role in AD and then provide a therapeutic strategy for AD.
|
26215834 |
2016 |
|
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 |
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 |
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 |
|
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 |
LHGDN |
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
|
18565828 |
2008 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
|
18565828 |
2008 |