MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Frontotemporal dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. 9641683 1998
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE In addition, the recent identification of mutations in the tau gene associated with a similar neurodegenerative condition (frontotemporal dementia and parkinsonism linked to chromosome 17) has further strengthened the argument that tau dysfunction is somehow involved in the pathogenesis of PSP. 9877531 1998
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations in the tau gene have been identified in patients with frontotemporal lobe dementia. 16317255 2006
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms. 17764851 2007
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE The relevance of tau dysfunction for neurodegeneration has been clarified through the identification of mutations in the Tau gene in cases with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 17493040 2007
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE They include the largely sporadic Alzheimer's disease (AD), progressive supranuclear palsy, corticobasal degeneration, Pick's disease and argyrophilic grain disease, as well as the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 15615642 2005
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Here, we describe a new mutation of the tau gene, a T --> C transition at position +11 of the intron following exon 10 (T --> C 3'E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband's life). 12441638 2002
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis. 29930232 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Compared with cells overexpressing wild-type Tau, cells overexpressing FTD-associated MAPT mutations produce significantly less extracellular total Tau without altering intracellular total Tau levels. 23105105 2012
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations in the gene encoding tau cause frontotemporal dementia with parkinsonism--chromosome 17 type (FTDP-17). 16600994 2006
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE To better understand the role of tau-mediated effects on pathophysiology and global central nervous system function, we extensively characterized gene expression, pathology and behavior of the rTg4510 mouse model, which overexpresses a mutant form of human tau that causes Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 25153994 2014
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease 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
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE The present study was aimed at determining the frequency of genetic variations in MAPT in a south Indian FTD cohort. 24041972 2014
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 12509859 2003
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE These data argue that additional genes may confer disease risk to PSP and CBS, and to FTD as well, beyond the MAPT tau haplotype.Further studies are warranted. 20413880 2010
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Furthermore, we analyzed some markers located in the common region of linkage (D17S800-D17S791), associated with some cases of familial frontotemporal dementia (FTDP-17), and the SNPs rs1816 and rs937 close to the tau gene, to determine their possible association with sporadic PSP. 12112206 2002
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Regardless, the original FTDP-17 nomenclature has been retained for patients with MAPT mutations, with such patients currently classified independently from the different sporadic forms of FTLD with tau-immunoreactive inclusions (FTLD-tau). 29253099 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations in the Progranulin gene (PGRN) recently have been discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without identified MAPT mutations. 16983677 2006
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE The tau gene (MAPT) causes frontotemporal dementia with parkinsonism linked to chromosome 17. 18322368 2008
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Missense mutations of the tau gene cause autosomal dominant frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), an illness characterized by progressive personality changes, dementia, and parkinsonism. 15681835 2005
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations in the gene for the microtubule-associated protein tau are associated with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 11115852 2000
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE We report two tau gene mutations at positions +19 and +29, in the intronic sequences immediately following the stem loop structure in exon 10, which segregate with FTD. 12615641 2003
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Here, we describe a new mutation, consisting of a C-to-T transition at position +12 of the intron following exon 10 of the tau gene in the Kumamoto pedigree, showing frontotemporal dementia. 10762152 2000
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Concerning autosomal dominant mutations, microtubule associated protein tau gene mutations have been the first ones identified and are generally associated with early onset bvFTD phenotype. 22527778 2012
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Neurodegenerative tauopathies characterized by hyperphosphorylated tau include frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease (AD). 20869593 2010