Frontotemporal dementia
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Pick Disease of the Brain
|
|
0.760 |
CausalMutation
|
CLINVAR |
|
|
|
Supranuclear Palsy, Progressive, 1, Atypical
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Supranuclear Palsy, Progressive, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
PARKINSON DISEASE, LATE-ONSET
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Progressive supranuclear palsy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The authors report that the R406W mutation is lacking in 25 unrelated individuals with PSP and in six unrelated individuals with another tauopathy-corticobasal degeneration.
|
9932968 |
1999 |
Corticobasal degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
The authors report that the R406W mutation is lacking in 25 unrelated individuals with PSP and in six unrelated individuals with another tauopathy-corticobasal degeneration.
|
9932968 |
1999 |
Mutism
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutism developed significantly later in the R406W family than in the other families.
|
10514099 |
1999 |
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
|
10995239 |
2000 |
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
|
10995239 |
2000 |
Senile Plaques
|
|
0.020 |
GeneticVariation
|
BEFREE |
The first R406W</span> brain showed many NFT in affected regions with only a few diffuse amyloid plaques.
|
11193139 |
2000 |
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease.
|
12414518 |
2002 |
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease.
|
12368474 |
2002 |
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease.
|
12368474 |
2002 |
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease.
|
12414518 |
2002 |
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
Therefore, these mice that exhibit a phenotype mimicking R406W FTDP-17 provide an animal model for investigating the adverse properties associated with this mutation, which might potentially recapitulate some etiological events in Alzheimer's disease.
|
12368474 |
2002 |
Tauopathies
|
|
0.070 |
GeneticVariation
|
BEFREE |
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease.
|
12368474 |
2002 |
Memory impairment
|
|
0.020 |
GeneticVariation
|
BEFREE |
Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau.
|
12368474 |
2002 |
Presenile dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history).
|
12876142 |
2003 |
Dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history).
|
12876142 |
2003 |
Tauopathies
|
|
0.070 |
GeneticVariation
|
BEFREE |
To examine the effects of tau gene mutations and the role of tau abnormalities in neurodegenerative tauopathies, transgenic (Tg) mice were engineered to express the longest human tau isoform (T40) with or without the R406W mutation (RW and hWT Tg mice, respectively) that is pathogenic for FTDP-17 in several kindreds.
|
15140937 |
2004 |
Presenile dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy.
|
15178940 |
2004 |
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
These results suggest that R406W Tg mice exhibit changes in depression-related behavior involving serotonergic neurons and provide an animal model for investigating AD with depression.
|
16182262 |
2005 |
Tauopathies
|
|
0.070 |
GeneticVariation
|
BEFREE |
Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) and causes a hereditary tauopathy that clinically resembles Alzheimer's disease (AD).
|
16182262 |
2005 |
Depressive disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results suggest that R406W Tg mice exhibit changes in depression-related behavior involving serotonergic neurons and provide an animal model for investigating AD with depression.
|
16182262 |
2005 |