|
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 |
Here, we demonstrate that MAPT p.R406W is sufficient to induce changes in GABA-mediated signaling and synaptic function, which may contribute to the pathogenesis of FTLD-tau and other primary tauopathies.
|
30546007 |
2018 |
|
Tauopathies
|
|
0.070 |
GeneticVariation
|
BEFREE |
To evaluate whether tauopathies alter the GABAergic SHP, we analyzed transgenic mice expressing human mutated Tau (mutations G272V, P301L, and R406W, VLW transgenic strain).
|
27743524 |
2017 |
|
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 |
|
Tauopathies
|
|
0.070 |
GeneticVariation
|
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 |
|
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 |
|
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 |
|
Tauopathies
|
|
0.070 |
GeneticVariation
|
BEFREE |
To gain more insights into the pathomechanism of tauopathies, we performed an RNAi-based large-scale screen in Drosophila melanogaster to identify genetic modifiers of Tau[R406W]-induced toxicity.
|
25794683 |
2015 |
|
Presenile dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene.
|
18284428 |
2008 |
|
Presenile dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy.
|
15178940 |
2004 |
|
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 |
|
Presenile dementia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.
|
23727082 |
2014 |
|
Parkinsonian Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses.
|
23727082 |
2014 |
|
Dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.
|
23727082 |
2014 |
|
Dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene.
|
18284428 |
2008 |
|
Parkinsonian Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |
|
Parkinsonian Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes.
|
29370822 |
2018 |
|
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 |
|
Progressive supranuclear palsy
|
|
0.020 |
GeneticVariation
|
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 |
|
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 |
|
Memory impairment
|
|
0.020 |
GeneticVariation
|
BEFREE |
Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau.
|
12368474 |
2002 |
|
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 |
|
Memory impairment
|
|
0.020 |
GeneticVariation
|
BEFREE |
R406W patients often show a long course of disease with marked memory deficits.
|
29370822 |
2018 |
|
Senile Plaques
|
|
0.020 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques.
|
25377499 |
2015 |
|
Cognition Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results prove that combination of the V337M and R406W mutations of tau accelerates human tau phosphorylation and induces tau pathology as well as cognitive deficits, making this model a suitable tool for basic research on tau as well as in vivo drug testing.
|
22797329 |
2013 |