|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Parkinson disease risk alleles in the MAPT (rs2942168; P = .0006) and CCDC62 (rs12817488; P = .004) loci were associated with global parkinsonism, and these associations remained after exclusion of patients with a PD diagnosis.
|
24514572 |
2014 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
ALS was more frequent in C9ORF72 than in MAPT and PGRN patients; onset before age 50 and parkinsonism were indicative of MAPT mutations, whereas hallucinations were indicative of PGRN mutations; prioritization of genetic testing is thus possible.
|
23254636 |
2013 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism.
|
22169201 |
2012 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We identified a rare p.A152T variant in MAPT exon 7 in two (of eight) patients with clinical presentation of parkinsonism and postmortem finding of neurofibrillary tangle pathology.
|
22595371 |
2012 |
|
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Frontotemporal dementia is commonly associated with parkinsonism in several sporadic (i.e., progressive supranuclear palsy, corticobasal degeneration) and familial neurodegenerative disorders (i.e., frontotemporal dementia associated with parkinsonism and MAPT or progranulin mutations in chromosome 17).
|
21892619 |
2011 |
|
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 |
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 |
GeneticVariation
|
group |
BEFREE |
The MAPT gene has been shown to be associated with several neurodegenerative disorders, including forms of parkinsonism and Parkinson disease (PD), but the results reveal population differences.
|
21063069 |
2010 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
CTD_human |
Familial aggregation of parkinsonism in progressive supranuclear palsy.
|
19458322 |
2009 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Tauopathies with parkinsonism represent a spectrum of disease entities unified by the pathologic accumulation of hyperphosphorylated tau protein fragments within the central nervous system.
|
19364361 |
2009 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Recently, we have generated transgenic mice (designated as SJLB) carrying human N279K mutant tau, one of the tau mutations causing parkinsonism linked to chromosome 17 (FTDP-17).
|
19898260 |
2009 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Parkin attenuates wild-type tau modification in the presence of beta-amyloid and alpha-synuclein.
|
18561034 |
2009 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD).
|
18509094 |
2008 |
|
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 |
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 |
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 |
Biomarker
|
group |
LHGDN |
In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.
|
18322394 |
2008 |
|
Parkinsonian Disorders
|
0.700 |
AlteredExpression
|
group |
LHGDN |
CSF neurofilament light chain and tau differentiate multiple system atrophy from Parkinson's disease.
|
16678934 |
2007 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
LHGDN |
Hereditary frontotemporal dementia caused by Tau gene mutations.
|
17493040 |
2007 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6.
|
17318302 |
2007 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
Furthermore, these mice present with degeneration of the nigrostriatal dopaminergic pathway, suggesting a possible mechanism for parkinsonism in FTDP-17.
|
17715352 |
2007 |
|
Parkinsonian Disorders
|
0.700 |
Biomarker
|
group |
BEFREE |
In 659 PD patients, 109 of which were followed up for 3.5 years from diagnosis, and 2,176 control subjects, we studied candidate genes involved in protein aggregation and inclusion body formation, the pathological hallmark of parkinsonism: microtubule-associated protein tau (MAPT), glycogen synthase kinase-3beta (GSK3B), and alpha-synuclein (SNCA).
|
17683088 |
2007 |
|
Parkinsonian Disorders
|
0.700 |
GeneticVariation
|
group |
BEFREE |
FTD with parkinsonism (FTDP-17) results from mutations in the gene encoding microtubule associated protein tau (MAPT) and is associated with tau deposition in the patient's brain.
|
17168647 |
2006 |