|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The second part will deal with the recent discovery of tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 which demonstrates that tau dysfunction can lead to neurodegeneration.
|
12938731 |
2003 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.
|
12796837 |
2003 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17).
|
27905268 |
2017 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene.
|
11456301 |
2001 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In addition, autosomal-dominant dementia and Parkinsonism has been shown to be caused by mutations in the MAPT and PGRN genes.
|
20187245 |
2010 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17.
|
12492138 |
2002 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
LHGDN |
The tau S305S mutation causes frontotemporal dementia with parkinsonism.
|
18093153 |
2008 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Recently, mutations in the tau gene on chromosome 17 were found causative for autosomal dominantly inherited frontotemporal dementia and parkinsonism (FTDP-17).
|
10553987 |
1999 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.
|
12796837 |
2003 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The identification of mutations in MAPT, the gene that encodes tau, causing dementia and parkinsonism established the notion that tau aggregation is responsible for the development of disease.
|
28789904 |
2018 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding the microtubule-associated protein tau (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17.
|
16240366 |
2005 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The role of tau in neurodegeneration has been clarified by the identification of genetic mutations in the tau gene in cases with familial frontotemporal dementia and parkinsonism linked to chromosome 17.
|
14528051 |
2003 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Frontotemporal dementia and parkinsonism linked to chromosome 17 have been associated with mutations in the microtubule associated protein tau (MAPT or tau) gene.
|
16014652 |
2005 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We have previously generated a double transgenic mouse line overexpressing the enzyme GSK-3beta and tau protein carrying a triple frontotemporal dementia and parkinsonism linked to chromosome 17 mutation whose expression patterns overlap in CA1 (pyramidal neurons) and dentate gyrus (granular neurons).
|
18951953 |
2008 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.
|
27311648 |
2016 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?
|
23121543 |
2014 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
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
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Tau aggregation and seeding analyses of two novel MAPT variants found in patients with motor neuron disease and progressive parkinsonism.
|
31027853 |
2019 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in coding exons or exon 10 5'-splice-site of the gene for microtubule-associated protein tau can cause chromosome 17-linked frontotemporal dementia and parkinsonism (FTDP-17).
|
10530520 |
1999 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia.
|
10412802 |
1999 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17T).
|
24292008 |
2014 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
LHGDN |
A few patients with mutations in the microtubule-associated protein tau gene (MAPT), affected by frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17T), may clinically present with a corticobasal syndrome (CBS).
|
18307268 |
2008 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Hyperphosphorylation and accumulation of tau in neurons (and glial cells) is one the main pathologic hallmarks in Alzheimer's disease (AD) and other tauopathies, including Pick's disease (PiD), progressive supranuclear palsy, corticobasal degeneration, argyrophilic grain disease and familial frontotemporal dementia and parkinsonism linked to chromosome 17 due to mutations in the tau gene (FTDP-17-tau).
|
15977985 |
2005 |