|
Alzheimer's Disease
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
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 |
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 |
To assess whether PGRN genetic variability contributed to other common neurodegenerative brain diseases, such as Alzheimer disease (AD) or Parkinson disease (PD).
|
17923627 |
2007 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
|
18565828 |
2008 |
|
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 |
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 |
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 |
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 |
These data suggest that genetic variability in the GRN gene may also increase the risk for developing AD in a gender-specific manner.
|
19016491 |
2009 |
|
Alzheimer's Disease
|
0.200 |
Biomarker
|
disease |
BEFREE |
These data argue against a direct role of GRN as a susceptibility factor for sporadic AD but support a role of GRN as a disease-modifying gene, possibly contributing to the failure of neuronal survival.
|
19625741 |
2009 |
|
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
This case report illustrates PGRN accumulation and Abeta aggregation in preclinical PS-1 AD case and raises the question whether this phenomenon coincides with or precedes Abeta aggregation.
|
19776335 |
2010 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We carried out an association study of BAG1 in a population of 291 patients clinically diagnosed with frontotemporal lobar degeneration (FTLD), none of whom was a carrier of mutations in progranulin or microtubule associated protein tau genes and 374 with AD as compared with 314 age- and gender-matched controls.
|
21157029 |
2011 |