|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses.
|
23727082 |
2014 |
|
Frontotemporal dementia
|
|
0.800 |
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 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The R406W amino acid substitution in Tau is associated with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) characterized by Tau-positive filamentous inclusions.
|
25794683 |
2015 |
|
Frontotemporal dementia
|
|
0.800 |
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 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutations on tau associated with disease, e.g., R406W in frontotemporal dementia with Parkinsonism linked to chromosome 17, altered its conformation to make it a better substrate for kinases.
|
29614672 |
2018 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs.
|
31543469 |
2019 |
|
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 |
|
Frontotemporal dementia
|
|
0.800 |
GeneticVariation
|
BEFREE |
The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features.
|
29370822 |
2018 |
|
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 |
|
Frontotemporal dementia
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Frontotemporal Lobar Degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ten FTLD-tau cases with a MAPT mutation (K257T, S305S, P301L, IVS10+16, R406W) were screened for the core differentiating neuropathological features used to diagnose the different sporadic FTLD-tau subtypes to determine whether the categorical separation of MAPT mutations from sporadic FTLD-tau is valid.
|
29253099 |
2018 |
|
Impaired cognition
|
|
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 |
|
Language Problems
|
|
0.010 |
GeneticVariation
|
BEFREE |
The mean age at onset of the patients carrying the R406W mutation was 52 years, and they presented with the peculiar AD-like phenotype without apparent behavioral or language problems.
|
18587238 |
2008 |
|
Memory impairment
|
|
0.020 |
GeneticVariation
|
BEFREE |
Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau.
|
12368474 |
2002 |
|
Memory impairment
|
|
0.020 |
GeneticVariation
|
BEFREE |
R406W patients often show a long course of disease with marked memory deficits.
|
29370822 |
2018 |
|
Memory Loss
|
|
0.010 |
GeneticVariation
|
BEFREE |
MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically with neuronal and glial tauopathy.
|
30546007 |
2018 |
|
Mental Depression
|
|
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 |
|
Mutism
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutism developed significantly later in the R406W family than in the other families.
|
10514099 |
1999 |
|
PARKINSON DISEASE, LATE-ONSET
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |
|
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 |
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia.
|
27345791 |
2016 |
|
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 |
|
Pick Disease of the Brain
|
|
0.760 |
GeneticVariation
|
BEFREE |
Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs.
|
31543469 |
2019 |