Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Common and rare variants in the MAPT gene increase the risk for sporadic FTLD-Tau, including progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).
|
31631020 |
2019 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
|
31059154 |
2019 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Accumulation of microtubule associated protein tau in the substantia nigra is associated with several tauopathies including progressive supranuclear palsy (PSP).
|
31689387 |
2019 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive supranuclear palsy (PSP) is a four-repeat tau proteinopathy.
|
31695675 |
2019 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive supranuclear palsy is a rare neurodegenerative disease associated with dysfunctional tau protein.
|
31122495 |
2019 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Intracellular tau protein aggregates are a pathological hallmark of neurodegenerative tauopathies, including Alzheimer disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Pick disease.
|
30193298 |
2019 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
|
31059154 |
2019 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in the tau gene (microtubule associated protein tau, MAPT) are linked to the onset of tauopathy, but the A152T variant is unique in acting as a risk factor for a range of disorders including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB).
|
30674342 |
2019 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A case-control study was used to investigate the associations between MAPT haplotypes and the risk of PSP, and a case series was conducted for examination of associations of MAPT haplotypes with the severity of tau pathology.
|
30882841 |
2019 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The microtubule-associated protein tau undergoes aberrant modification resulting in insoluble brain deposits in various neurodegenerative diseases, including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal degeneration.
|
31366728 |
2019 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Progressive supranuclear palsy (PSP) is associated with microtubule-associated protein tau dysfunction.
|
29902389 |
2018 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We determined the frequency of beta-amyloid deposition in PSP, and whether beta-amyloid deposition in PSP is associated with PHF-tau deposition pattern, or clinical features.
|
29254665 |
2018 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Tau protein accumulation is the most common pathology among degenerative brain diseases, including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), traumatic brain injury (TBI), and over twenty others.
|
30126037 |
2018 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Clinical value of CSF amyloid-beta-42 and tau proteins in Progressive Supranuclear Palsy.
|
29948175 |
2018 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, FTLD-tau cases with MAPT mutations had similar patterns and severity of neuropathological features to sporadic FTLD-tau subtypes and could be classified into: Pick's disease (K257T), corticobasal degeneration (S305S, IVS10+16, R406W), progressive supranuclear palsy (S305S) or globular glial tauopathy (P301L, IVS10+16).
|
29253099 |
2018 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Alzheimer's disease and several variants of frontotemporal degeneration including progressive supranuclear palsy and corticobasal degeneration are characterized by the accumulation of abnormal tau protein into aggregates.
|
29232559 |
2018 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While PSP is largely considered to be a sporadic disorder, cases with suspected familial inheritance have been identified and the common MAPT H1haplotype is a major genetic risk factor.
|
29986742 |
2018 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
In conclusion, the present study indicates that CBD with severe TDP-43 pathology is a distinct clinicopathologic subtype of CBD, characterized by PSP-like clinical presentations, severe tau pathology in the olivopontocerebellar system, and low frequency of MAPT H1 haplotype.
|
29926172 |
2018 |
Progressive supranuclear palsy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Beyond MAPT, we show dysregulation of CXCR4 expression in PSP, PD, and FTD brains, and mouse models of tau pathology.
|
29636460 |
2018 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the microtubule associated protein tau (MAPT) gene have been found to cause familial FTD and PSP, while the P301S mutation in MAPT has been associated with early-onset fast progressive dementia and the presence of seizures.
|
29621183 |
2018 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Significant genetic overlap was also found between ALS and PSP at rs7224296, which tags the MAPT H1 haplotype (nearest gene, NSF; P = .045).
|
29630712 |
2018 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Tauopathies are a class of neurodegenerative diseases, including Alzheimer's disease, frontotemporal dementia and progressive supranuclear palsy, which are associated with the pathological aggregation of tau protein into neurofibrillary tangles (NFT).
|
28610892 |
2017 |
Progressive supranuclear palsy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer's disease and progressive supranuclear palsy brains.
|
28974731 |
2017 |
Progressive supranuclear palsy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive supranuclear palsy (PSP) is characterized by the deposition of tau proteins in some specific area such as the basal ganglia and brainstem.
|
27797445 |
2017 |
Progressive supranuclear palsy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neuropathological examination confirmed the PSP diagnosis in the first two subjects; the MAPT P301L mutation carrier had an atypical tauopathy characterized by grain-like tau-containing neurites in gray and white matter with heaviest burden in basal ganglia.
|
27997036 |
2017 |