|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neurofibrillary tangles composed of exon 10+ microtubule associated protein tau (MAPT) deposits are the characteristic feature of the neurodegenerative diseases progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).
|
17085483 |
2006 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the tau gene, MAPT, cause familial frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), and common variation in MAPT is strongly associated with the risk of PSP, corticobasal degeneration and, to a lesser extent, AD and Parkinson's disease (PD), implicating the involvement of tau in common neurodegenerative pathway(s).
|
16987883 |
2006 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.
|
15792962 |
2005 |
|
Corticobasal degeneration
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In addition to FTDP-17, altered tau isoform levels are also pathogenically associated with other FTD disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration and Pick's disease; however, the mechanisms remain undefined and mutations in tau have not been detected.
|
15615630 |
2005 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of microtubule-associated-protein-tau-based pathological features in some patients and the discovery, in some familial cases, of mutations in the tau gene links FTD to other forms of tauopathy, such as progressive supranuclear palsy and corticobasal degeneration.
|
16239184 |
2005 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Abundant filamentous tau inclusions in oligodendrocytes (OLGs) are hallmarks of neurodegenerative tauopathies, including sporadic corticobasal degeneration and hereditary frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17).
|
16221853 |
2005 |
|
Corticobasal degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using traditional histochemical stains and tau protein and ubiquitin immunohistochemistry, we separated each case into one of the following categories: classic Pick disease (PiD; n = 7), corticobasal degeneration (CBD; n = 5), dementia lacking distinctive histopathologic features (DLDH; n = 4), progressive supranuclear palsy (PSP; n = 2), frontotemporal lobar degeneration with motor neuron disease or motor neuron disease-type inclusions (FTLD-MND/MNI; n = 2), and neurofibrillary tangle dementia (NFTD; n = 1).
|
15892300 |
2005 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tau gene mutations are pathogenic for frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), and tau polymorphisms are genetic risk factors for sporadic progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).
|
15495240 |
2004 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
They include the largely sporadic Alzheimer's disease, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), Pick's disease (PiD), argyrophilic grain disease, as well as the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
|
15036206 |
2004 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the tau gene in frontotemporal dementia with parkinsonism and genetic association of the tau locus with progressive supranuclear palsy and corticobasal degeneration directly implicate the tau gene in the aetiology of these tauopathies.
|
12231446 |
2002 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because multiple tau gene mutations are pathogenic for FTDP-17 and tau polymorphisms appear to be genetic risk factors for sporadic progressive supranuclear palsy and corticobasal degeneration, tau abnormalities are linked directly to the etiology and pathogenesis of neurodegenerative disease.
|
11520930 |
2001 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To analyze the association of polymorphisms in the tau gene with pathologically confirmed corticobasal degeneration (CBD).
|
11425937 |
2001 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition to the tau mutations, a common extended haplotype in the tau gene also appears to be a risk factor in the development of the apparently sporadic tauopathies progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).
|
10959034 |
2000 |
|
Corticobasal degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Filamentous tau protein deposits are also the defining characteristic of other neurodegenerative diseases, many of which are frontotemporal dementias or movement disorders, such as Pick's disease, progressive supranuclear palsy, and corticobasal degeneration.
|
11193179 |
2000 |
|
Corticobasal degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Filamentous tau protein deposits are also the defining characteristic of other neurodegenerative diseases, many of which are frontotemporal dementias or movement disorders, such as Pick's disease, progressive supranuclear palsy and corticobasal degeneration.
|
10983715 |
2000 |
|
Corticobasal degeneration
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Epitope expression and hyperphosphorylation of tau protein in corticobasal degeneration: differentiation from progressive supranuclear palsy.
|
7572077 |
1995 |