Gene: MAPT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation 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
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation 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
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349

2015
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation 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
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation 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
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation 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
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation BEFREE Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. 17319286

2007
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation BEFREE The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352

2007
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation 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
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation BEFREE The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism. 10802785

2000
dbSNP: rs63750424
rs63750424
MAPT
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
dbSNP: rs63750424
rs63750424
MAPT
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
dbSNP: rs63751273
rs63751273
MAPT
0.030 GeneticVariation BEFREE Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. 28268100

2017
dbSNP: rs63750424
rs63750424
MAPT
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
dbSNP: rs63751273
rs63751273
MAPT
0.030 GeneticVariation 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
dbSNP: rs63751273
rs63751273
MAPT
0.030 GeneticVariation BEFREE Secondly, either of the two less prevalent genotypes observed in patient 2 may be the factor to modify the phenotype of P301L mutation into those unusual clinical features with prominent parkinsonism. 12111297

2002
dbSNP: rs63751438
rs63751438
MAPT
0.020 GeneticVariation BEFREE Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. 17318302

2007
dbSNP: rs63751165
rs63751165
MAPT
0.020 GeneticVariation BEFREE Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. 15615814

2005
dbSNP: rs63751165
rs63751165
MAPT
0.020 GeneticVariation BEFREE Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N. 15178939

2004
dbSNP: rs63751438
rs63751438
MAPT
0.020 GeneticVariation BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837

2003
dbSNP: rs63750072
rs63750072
MAPT
0.010 GeneticVariation BEFREE Six variants (rs1801334, rs33995883, rs35507033, rs781737269, rs779760087, and rs63750072) were evaluated as pathogenic by at least one in-silico predictor.No single "founder" pathogenic variant associated with parkinsonism has been found in any of the probands from researched pedigree. 30235682

2018
dbSNP: rs767543900
rs767543900
MAPT
0.010 GeneticVariation BEFREE Although cognitive decline has been recognized as a feature of the full-blown clinical picture of p.A53T related parkinsonism, a predominant frontotemporal dementia-like phenotype at presentation has not been previously described. 28012952

2017
dbSNP: rs267604921
rs267604921
MAPT
0.010 GeneticVariation 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
dbSNP: rs143624519
rs143624519
MAPT
0.010 GeneticVariation 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
dbSNP: rs242557
rs242557
MAPT
0.010 GeneticVariation BEFREE The rs242557 polymorphism could act modulating the phenotypic expressivity of the H1 risk on these parkinsonisms. 19879020

2011