|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy).
|
31191295 |
2019 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is, to best of our knowledge, the first report describing a pathologically confirmed progressive supranuclear palsy - corticobasal syndrome (PSP-CBS) variant case in a <i>FMR1</i> premutation carrier.
|
30158953 |
2018 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To review the clinical and molecular features of non-Alzheimer's disease (non-AD) dementias, focusing on disorders associated with tau pathology (that is, frontotemporal lobar degeneration [FTLD], corticobasal ganglionic degeneration [CBD], and progressive supranuclear palsy [PSP]) or on disorders with synuclein pathology (that is, dementia with Lewy bodies [DLB] and multisystem atrophy [MSA]).
|
15101498 |
2004 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have recently examined the MAPT locus in progressive supranuclear palsy and found that a haplotype (H1c) on the background of the well-described H1 clade is associated with PSP.
|
16000317 |
2005 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progressive supranuclear palsy syndrome (PSP-S) results from neurodegeneration within a network of brainstem, subcortical, frontal and parietal cortical brain regions.
|
28951832 |
2017 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson's syndrome.
|
28467028 |
2017 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To elucidate different patterns of progression of midbrain atrophy in patients with Richardson's syndrome (RS), progressive supranuclear palsy-parkinsonism (PSP-P), and Parkinson's disease (PD) using magnetic resonance imaging (MRI)-based visual rating indexes.
|
27614955 |
2017 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We aimed to assess whether a combined analysis of dopamine transporter (DAT)- and perfusion-SPECT images (or either) could: (1) distinguish atypical parkinsonian syndromes (APS) from Lewy body diseases (LBD; majority Parkinson disease [PD]), and (2) differentiate among APS subgroups (progressive supranuclear palsy [PSP], corticobasal syndrome [CBS], and multiple system atrophy [MSA]).
|
29157745 |
2018 |
|
Progressive supranuclear palsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rs186977284 was also present in 2.7% of a large cohort of autopsy-confirmed PSP patients (N = 566) and only 0.9% of an additional control series (P = 0.034, OR = 3.08), extending the association to PSP.
|
24121548 |
2014 |
|
Suntan
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.
|
29739929 |
2018 |
|
Parkinson Disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Using a PSP genetic risk score (GRS), we showed that the genetic risk burden in the EOPSP (mean z-score, 0.59) and LOPSP (mean z-score, 0.48) groups was significantly higher (P < 0.05) when compared with the PD group (mean z-score, -0.08).
|
31299107 |
2019 |
|
Alzheimer's Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
However, although there are currently only limited data available, AgD seems to be clinically distinct from PSP and CBD and shares rather features of (mild) AD or other forms of 'limbic' dementias, among them senile dementia with tangles and the localized form of AD.
|
15641585 |
2004 |
|
Alzheimer's Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
<b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy).
|
31191295 |
2019 |
|
Tauopathies
|
0.050 |
GeneticVariation
|
group |
BEFREE |
<b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy).
|
31191295 |
2019 |
|
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Rs186977284 was also present in 2.7% of a large cohort of autopsy-confirmed PSP patients (N = 566) and only 0.9% of an additional control series (P = 0.034, OR = 3.08), extending the association to PSP.
|
24121548 |
2014 |
|
Pick Disease of the Brain
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
<b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy).
|
31191295 |
2019 |
|
Frontotemporal dementia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Over two dozen mutations in the gene encoding the microtubule associated protein tau cause a variety of neurodegenerative dementias known as tauopathies, including frontotemporal dementia (FTD), PSP, CBD and Pick's disease.
|
24086739 |
2013 |
|
Impaired cognition
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Age-dependent neuroinflammation and cognitive decline in a novel Ala152Thr-Tau transgenic mouse model of PSP and AD.
|
26916334 |
2016 |
|
Autoimmune Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The SS group had a higher prevalence of SP-1 autoantibodies than the group without SS or other autoimmune diseases (33% vs. 19%; P = 0.02) but had no difference in carbonic anhydrase 6 (P = 0.31) or parotid secretory protein autoantibodies (P = 0.33).
|
30161055 |
2018 |
|
Adenocarcinoma of prostate
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Due to the similarities between human CaP tumors and the PSP-KIMAP tumors, this preclinical model may supplement the current transgenic models to study CaP more accurately.
|
15727931 |
2005 |
|
Senile dementia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, although there are currently only limited data available, AgD seems to be clinically distinct from PSP and CBD and shares rather features of (mild) AD or other forms of 'limbic' dementias, among them senile dementia with tangles and the localized form of AD.
|
15641585 |
2004 |
|
Pneumothorax
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
We retrospectively reviewed and stratified 938 instances of pneumothorax in 751 consecutive patients diagnosed with SP into the PSP and SSP groups.
|
28386166 |
2017 |
|
Mental deterioration
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Age-dependent neuroinflammation and cognitive decline in a novel Ala152Thr-Tau transgenic mouse model of PSP and AD.
|
26916334 |
2016 |
|
Frontotemporal Lobar Degeneration
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
<b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy).
|
31191295 |
2019 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The prognostic value of the pSP genes was validated in a large independent series of PDAC patients (n = 78) using nCounter analysis of expression (in tumor versus surrounding pancreatic tissue) and Cox regression for disease-free and overall survival.
|
24069258 |
2013 |