|
Dementia
|
0.500 |
Biomarker
|
disease |
CTD_human |
It also demonstrates that half of the patients with a PGRN mutation in our series had no apparent family history of dementia.
|
17436289 |
2007 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
Biomarker
|
disease |
LHGDN |
Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.
|
19012866 |
2008 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Both patients were examined by neuroimaging, neuropsychological assessment and genetic analysis of GRN and other genes associated with dementia.
|
27997711 |
2018 |
|
Dementia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We show that PGRN haploinsufficiency leads to NCL-like features in humans, some occurring before dementia onset.
|
28404863 |
2017 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy.
|
23724906 |
2013 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is consistent with the finding that PPA frequency in dominantly inherited dementias is the highest in kindreds with GRN variants.
|
30599136 |
2019 |
|
Dementia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PGRN mutations at 17q21 may occur in apparently sporadic frontotemporal lobar dementia with ubiquitinated inclusions cases and in cases presenting with either primary progressive aphasia or the behavioral variant of frontotemporal dementia.
|
17522386 |
2007 |
|
Dementia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
To investigate the levels of progranulin (PGRN) in cerebrospinal fluid (CSF) in different neurodegenerative dementias and their correlation with levels in plasma in cognitively normal subjects.
|
26682689 |
2016 |
|
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
PGRN mutations at 17q21 may occur in apparently sporadic frontotemporal lobar dementia with ubiquitinated inclusions cases and in cases presenting with either primary progressive aphasia or the behavioral variant of frontotemporal dementia.
|
17522386 |
2007 |
|
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival.
|
18378771 |
2008 |
|
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Characteristics of frontotemporal dementia patients with a Progranulin mutation.
|
16983677 |
2006 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
Biomarker
|
disease |
CTD_human |
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
|
18543312 |
2008 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
Biomarker
|
disease |
LHGDN |
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 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Late-onset frontotemporal dementia associated with a novel PGRN mutation.
|
17417739 |
2007 |
|
Dementia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The neuropathology and clinical phenotype of FTD with progranulin mutations.
|
17458552 |
2007 |
|
Dementia
|
0.500 |
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 |
|
Dementia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|