|
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 |
Biomarker
|
group |
BEFREE |
Tau protein is found to be aggregated and hyperphosphorylated (p-tau) in many neurologic disorders, including Parkinson disease (PD) and related parkinsonisms, Alzheimer disease, traumatic brain injury, and even in normal aging.
|
31085590 |
2019 |
|
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 |
Biomarker
|
group |
BEFREE |
Abnormal tau protein was found to be the cause of familial frontotemporal dementia and parkinsonism.
|
11433638 |
2001 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
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 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
The aggregation of NFTs, the abnormal hyperphosphorylation of tau protein, and the interaction between tau and alpha-synuclein may all contribute to the cell death and poor axonal transport observed in PD and Parkinsonism.
|
30333786 |
2018 |
|
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 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Variants of the MAPT gene have been suggested to be associated with Parkinson's disease (PD) and to modify the risk for leucine-rich repeat kinase 2 (LRRK2) Parkinsonism.
|
24559644 |
2014 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
LHGDN |
In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.
|
18322394 |
2008 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
These mice contain a tau gene with a mutation of the frontotemporal dementia parkinsonism (FTDP-17) type, in which valine is substituted with methionine residue 337.
|
11741399 |
2001 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Several distinct clinical syndromes presenting with parkinsonism have been associated with subcortical neurofibrillary degeneration and the abnormal accumulation of hyperphosphorylated tau protein in the brain.
|
14502653 |
2003 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
However, since 1998, the identification of more than 25 mutations in the tau gene, associated with frontotemporal dementia and parkinsonism linked to chromosome 17, has demonstrated that tau dysfunction can lead to neurodegeneration and the development of clinical symptoms.
|
12470988 |
2002 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Four of 22 cases with severe putaminal MAPT deposition were documented as having developed parkinsonism.
|
31206007 |
2019 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Neurofibrillary tangle parkinsonian disorders--tau pathology and tau genetics.
|
10495033 |
1999 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Parkinsonism in frontotemporal dementia (FTD) was first described in families with mutations in the microtubule-associated protein tau (MAPT) and progranulin (PRGN) genes.
|
24998994 |
2014 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutations in the microtubule-associated tau (MAPT) gene are associated clinically with frontotemporal dementia with or without supranuclear palsy, corticobasal syndrome or parkinsonism.
|
21176711 |
2011 |
|
Parkinsonian Disorders
|
0.700 |
AlteredExpression
|
group |
BEFREE |
Analysing MAPT alternative splicing, the expression of 1N/4R isoform was inversely associated with global parkinsonism (p = 0.008) and bradykinesia (p = 0.008).
|
27458716 |
2016 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
CTD_human |
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.
|
10802785 |
2000 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Tau is not only a basic component of neurofibrillary degeneration, but is also an aetiological factor, as demonstrated by mutations on the tau gene responsible for frontotemporal dementias with parkinsonism linked to chromosome 17.
|
10970052 |
2000 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The analysis of tau gene and the study of familial cases of tauopathies have led to the discovery of tau gene mutations that cause inherited dementia designated as Frontotemporal dementia (FTD) with parkinsonism linked to chromosome 17 (FTDP-17).
|
15056452 |
2004 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.
|
10802785 |
2000 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
LHGDN |
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 |