|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants in the granulin (GRN) gene have been shown to increase the risk of Alzheimer's disease (AD).
|
22890097 |
2013 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we undertook a systematic study of nonverbal sound processing in patient groups with canonical dementia syndromes comprising clinically diagnosed typical amnestic Alzheimer's disease (AD; n=21), progressive nonfluent aphasia (PNFA; n=5), logopenic progressive aphasia (LPA; n=7) and aphasia in association with a progranulin gene mutation (GAA; n=1), and in healthy age-matched controls (n=20).
|
21689671 |
2011 |
|
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 |
Biomarker
|
disease |
BEFREE |
How microglial PGRN might be involved in AD and other neurodegenerative diseases will be discussed.
|
30862089 |
2019 |
|
Alzheimer's Disease
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
However, alterations of central nervous progranulin expression also occur in neurodegenerative disorders unrelated to GRN mutations, such as Alzheimer's disease.
|
27760429 |
2017 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Importantly, ELISA analyses also identified one probable Alzheimer's disease patient (1.4%) carrying a loss-of-function mutation in GRN.
|
19158106 |
2009 |
|
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 |
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 |
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 contrast, the HpScl groups (HpScl and HpScl-AD) were more likely to exhibit genetic variants in GRN and TMEM106B that are associated with frontotemporal lobar degeneration.
|
24899141 |
2014 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this large kindred, most affected individuals had clinical presentations that resembled Alzheimer disease or amnestic mild cognitive impairment associated with a mutation in PGRN and underlying FTLD-U with NII neuropathologic abnormalities.
|
20142525 |
2010 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this manuscript, we review the initial discovery and replication studies describing TMEM106B variants as disease risk factors and modifiers in TDP-43 proteinopathies, such as FTLD-TDP caused by progranulin (GRN) or chromosome 9 open reading frame 72 (C9orf72) mutations, as well as Alzheimer's disease and hippocampal sclerosis.
|
27543298 |
2016 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Moreover, PGRN expression is increased in activated microglia in many neurodegenerative diseases including Creutzfeldt-Jakob disease, motor neuron disease and Alzheimer's disease.
|
16862116 |
2006 |
|
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 |
Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.
|
29614680 |
2018 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that TT allele of rs5848 is associated with increased risk of AD, suggesting that genetic variant of progranulin gene may play an important role in AD development.
|
24680777 |
2014 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our main objective was to study if low serum progranulin protein (PGRN) levels may detect GRN mutations in a Spanish cohort of patients with FTLD or AD.
|
22647257 |
2012 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
Overlapping but distinct networks were involved in the AD-PPA and GRN-PPA subgroups, with more anterior temporal lobe involvement in GRN-PPA.
|
19679189 |
2010 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The phenotypes associated with GRN mutations vary greatly: 20/32 (63%) carriers had fvFTD, the other (12/32, 37%) had clinical diagnoses of PPA, CBDS, Lewy body dementia or Alzheimer's disease.
|
18245784 |
2008 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
The phenotypes associated with GRN mutations vary greatly: 20/32 (63%) carriers had fvFTD, the other (12/32, 37%) had clinical diagnoses of PPA, CBDS, Lewy body dementia or Alzheimer's disease.
|
18245784 |
2008 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this meta-analysis was to investigate the association between progranulin polymorphism rs5848 and risk of the neurodegenerative diseases frontotemporal lobar degeneration (FTLD), Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS).
|
25578179 |
2015 |
|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The result of the meta-analysis supported T allele of rs5848 within GRN as a risk factor for AD.
|
26820675 |
2017 |
|
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 |