|
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 |
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 |
|
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 |
We hypothesized that intermediate C9orf72 repeats are a genetic risk factor for corticobasal degeneration (CBD), a neurodegenerative disease that can be clinically similar to Parkinson's but has distinct tau protein pathology.
|
31327044 |
2019 |
|
Corticobasal degeneration
|
0.100 |
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 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
The microtubule-associated protein tau is implicated in various neurodegenerative diseases including Alzheimer's disease, progressive supranuclear palsy and corticobasal degeneration, which are characterized by intracellular accumulation of hyperphosphorylated tau.
|
28233851 |
2017 |
|
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 |
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 |
|
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 |
TDP-43 pathological changes, of the kind seen in many elderly individuals with Alzheimer's disease, were seen in only two FTLD-tau cases--a 70-year-old male with exon 10 + 13 mutation in MAPT, and a 73-year-old female with corticobasal degeneration.
|
24861427 |
2014 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplotype, an extended haplotype that spans the MAPT gene and has previously been implicated in other neurodegenerative disorders including Parkinson's disease, progressive supranuclear palsy, and corticobasal degeneration.
|
22027014 |
2012 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The MAPT (microtubule-associated protein tau) locus is one of the most remarkable in neurogenetics due not only to its involvement in multiple neurodegenerative disorders, including progressive supranuclear palsy, corticobasal degeneration, Parksinson's disease and possibly Alzheimer's disease, but also due its genetic evolution and complex alternative splicing features which are, to some extent, linked and so all the more intriguing.
|
22723018 |
2012 |
|
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 |
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 |
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 |
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 |
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 |
Recent studies have detected an over-representation of the H1 haplotype of the MAPT gene in neurodegenerative disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and Parkinson's disease (PD), whereas the H2 haplotype has been found to be related to familial FTD.
|
18854867 |
2009 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The H1 haplotype of the tau gene, MAPT, has been linked to the sporadic tauopathies corticobasal degeneration and progressive supranuclear palsy; however, there have been inconsistent findings regarding association with frontotemporal dementia (FTD).
|
17386961 |
2008 |
|
Corticobasal degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previously we have shown that the H1c haplotype on the background of the H1 clade of haplotypes at the MAPT locus is associated with increased risk for progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and Alzheimer's disease (AD).
|
17174556 |
2007 |
|
Corticobasal degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
The microtubule-associated protein tau is another protein that self-aggregates in specific neurodegenerative diseases that also involve loss of dopamine neurons such as frontotemporal dementia with parkinsonism linked to chromosome 17, progressive supranuclear palsy and corticobasal degeneration.
|
16554120 |
2006 |