|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
<sup>18</sup> F-AV-1451, a radiotracer that binds to the pathological tau protein, may be helpful for in vivo visualization and quantitation of tau pathology in PSP.
|
27813160 |
2017 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results of the current study indicate that variations in microtubule-associated protein tau influence cognition in progressive supranuclear palsy.
|
29076559 |
2017 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Neurodegenerative conditions, including progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal dementia (FTD), are primarily characterized by accumulation of tau protein in the brain.
|
29206491 |
2017 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrated that different variants in MAPT were associated with AD (rs2471738: OR= 1.04, 95%CI = 1.00 - 1.09; H2: OR = 0.94, 95% CI = 0.91 - 0.97), PD (H2: OR = 0.76, 95% CI = 0.74 - 0.79), PSP (rs242557: OR = 1.96, 95% CI = 1.71 - 2.25; rs2471738: OR = 1.85, 95% CI = 1.
|
28402959 |
2017 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Because PSP is associated with tau protein abnormalities, there is growing interest in clinical trials of new tau-directed therapies.
|
28653647 |
2017 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest: (1) novel genetic overlap between CBD and PSP beyond the MAPT locus; (2) strong ties between CBD and FTD through the MAPT clade, and (3) unique combinations of overlapping genes that may, in part, influence selective regional or neuronal vulnerability observed in specific tauopathies.
|
28271184 |
2017 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MAPT H1 was also associated with risk for PD (OR = 1.30; p = 0.0003) and PSP (OR = 3.18; p = 8.59 × 10-8) but not FTD.
|
26444794 |
2016 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau).
|
26861289 |
2016 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that PSP variants at MAPT and MOBP loci may confer PSP risk via influencing gene expression and tau neuropathology.
|
27115769 |
2016 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS).
|
26891767 |
2016 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Abnormal aggregation of the microtubule-associated protein tau characterizes the neuropathology of tauopathies, such as Alzheimer disease (AD), corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP).
|
26936765 |
2016 |
|
Progressive supranuclear palsy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Regional expression of the MAPT gene is associated with loss of hubs in brain networks and cognitive impairment in Parkinson disease and progressive supranuclear palsy.
|
27697694 |
2016 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Tauopathies are a group of neurodegenerative disorders that include hereditary frontotemporal dementias (FTDs) such as FTD with parkinsonism linked to chromosome 17 (FTDP-17), as well as sporadic variants of FTDs like progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Pick's disease.
|
25862286 |
2015 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).
|
26077951 |
2015 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All sib-pairs had typical pathological features of PSP; however, the age at onset of the sib-pair with MAPT mutation was significantly younger than sporadic PSP.
|
25443551 |
2015 |
|
Progressive supranuclear palsy
|
0.700 |
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 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive Supranuclear Palsy (PSP) is a neurodegenerative disorder characterised by intracellular aggregation of the microtubule-associated protein tau.
|
25402454 |
2014 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
CTD_human |
Progressive Supranuclear Palsy (PSP) is a neurodegenerative disorder characterised by intracellular aggregation of the microtubule-associated protein tau.
|
25402454 |
2014 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two recent studies investigated the association of the microtubule associated protein tau (MAPT) H1 haplotype, a known risk factor for neurodegenerative disease including progressive supranuclear palsy and Parkinson's disease (PD), with essential tremor (ET).
|
24372973 |
2014 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive supranuclear palsy is a rare parkinsonian disorder with characteristic neurofibrillary pathology consisting of hyperphosphorylated tau protein.
|
24503276 |
2014 |
|
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive supranuclear palsy (PSP) is a neurodegenerative disorder pathologically characterized by intracellular tangles of hyperphosphorylated tau protein distributed throughout the neocortex, basal ganglia, and brainstem.
|
24252572 |
2013 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Abnormal tau inclusions, in selected regions of the brain, are a hallmark of the disease and the H1 haplotype of MAPT, the gene encoding tau, is the major risk factor in PSP.
|
23428180 |
2013 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the microtubule-associated protein tau gene (MAPT) can cause frontotemporal dementia with Parkinsonism linked to the chromosome 17, and are associated with the risk for progressive supranuclear palsy, Parkinson's disease, corticobasal degeneration, and multiple system atrophy.
|
23001634 |
2013 |
|
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All six patients with early-onset PSP and the abnormal eye movements that are not typical of sporadic PSP had MAPT mutations.
|
22818528 |
2013 |