|
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 |
Microtubule-associated protein tau (MAPT) gene is compelling among the susceptibility genes of neurodegenerative diseases which include Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
|
28402959 |
2017 |
|
Corticobasal degeneration
|
0.100 |
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 |
|
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 |
Aggregation of microtubule-associated protein tau into insoluble intracellular neurofibrillary tangles is a characteristic hallmark of Alzheimer's disease (AD) and other neurodegenerative diseases, including progressive supranuclear palsy, argyrophilic grain disease, corticobasal degeneration, frontotemporal dementias with Parkinsonism linked to chromosome 17, and Pick's disease.
|
20858961 |
2010 |
|
Corticobasal degeneration
|
0.100 |
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 |
|
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 |
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 |
|
Corticobasal degeneration
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Epitope expression and hyperphosphorylation of tau protein in corticobasal degeneration: differentiation from progressive supranuclear palsy.
|
7572077 |
1995 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal lobar degeneration-associated pathologies segregated based on their cerebral atrophy profiles, according to the following scheme: asymmetric, relatively localized (predominantly temporal lobe) atrophy (TDP-43 type C); relatively symmetric, relatively localized (predominantly temporal lobe) atrophy (microtubule-associated protein tau mutations); strongly asymmetric, distributed atrophy (Pick's disease); relatively symmetric, predominantly extratemporal atrophy (corticobasal degeneration, fused-in-sarcoma pathology).
|
21908872 |
2011 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genome wide association studies have identified microtubule associated protein tau (MAPT) H1 haplotype single nucleotide polymorphisms (SNPs) as leading common risk variants for Parkinson's disease, progressive supranuclear palsy and corticobasal degeneration.
|
29084565 |
2017 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, in the sporadic tauopathies such as progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) where MAPT mutation is absent, common variation in MAPT that defines the H1 and H2 haplotype clades strongly influences disease risk.
|
20704554 |
2010 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In addition, the MAPT H1-clade specific sub-haplotype, H1c, has been strongly associated with the tauopathies, progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) and, to a lesser extent, with Alzheimer's disease (AD).
|
18162161 |
2009 |
|
Corticobasal degeneration
|
0.100 |
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 |
|
Corticobasal degeneration
|
0.100 |
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Members of families with mutations in the tau gene are known to be heterogeneous in their clinical presentation, ranging from frontotemporal dementia to a clinical picture more resembling corticobasal degeneration or progressive supranuclear palsy.
|
18093153 |
2008 |
|
Corticobasal degeneration
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the tau coding gene MAPT are a cause of frontotemporal dementia, and the H1/H1 genotype of MAPT, giving rise to higher tau expression levels, is associated with progressive supranuclear palsy, corticobasal degeneration, and Parkinson disease (PD).
|
20498436 |
2010 |
|
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 |
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 |
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 |