|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease.
|
30590647 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Accumulation of misfolded and aggregated forms of tau protein in the brain is a neuropathological hallmark of tauopathies, such as Alzheimer's disease and frontotemporal lobar degeneration.
|
31667556 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we report for the first time a significant upregulation of A2AR in patients suffering from frontotemporal lobar degeneration with the MAPT P301L mutation.
|
31599329 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mutations in the MAPT gene cause heterogeneous forms of frontotemporal lobar degeneration with tauopathy (FTLD-Tau).
|
31631020 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants.
|
31640778 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The microtubule-associated protein Tau, generated by the MAPT gene is involved in dozens of neurodegenerative conditions ("tauopathies"), including Alzheimer's disease (AD) and frontotemporal lobar degeneration/frontotemporal dementia (FTLD/FTD).
|
29729314 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In particular, peripheral cells from patients affected by frontotemporal lobar degeneration carrying a mutation in tau gene (genetic tauopathies), as well as cells from animal models, show chromosome numerical and structural aberrations, chromatin anomalies, and a propensity toward abnormal recombination.
|
29794074 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau).
|
26861289 |
2016 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene MAPT encoding tau, a microtubules-associated protein, cause a subtype of familial neurodegenerative disorder, known as frontotemporal lobar degeneration tauopathy (FTLD-Tau), which presents with dementia and is characterized by atrophy in the frontal and temporal lobes of the brain.
|
27721502 |
2016 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we analysed pain and temperature symptoms using a semi-structured caregiver questionnaire recording altered behavioural responsiveness to pain or temperature for a cohort of patients with frontotemporal lobar degeneration (n = 58, 25 female, aged 52-84 years, representing the major clinical syndromes and representative pathogenic mutations in the C9orf72 and MAPT genes) and a comparison cohort of patients with amnestic Alzheimer's disease (n = 20, eight female, aged 53-74 years).
|
26463677 |
2015 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Microtubule-associated protein tau gene (MAPT) is one of the major genes linked to frontotemporal lobar degeneration, a group of neurodegenerative diseases clinically, pathologically, and genetically heterogeneous.
|
24018212 |
2014 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.
|
25574752 |
2014 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the MAPT (microtubule-associated protein tau) gene are associated with FTLD (frontotemporal lobar degeneration) with tau pathology.
|
22817714 |
2012 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Characteristic tau isoform composition of the insoluble fibrillar tau inclusions define tauopathies, including Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and frontotemporal dementia with parkinsonism linked to chromosome 17/frontotemporal lobar degeneration-tau (FTDP-17/FTLD-tau).
|
22862741 |
2012 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MAPT mutations cause autosomal dominant frontotemporal lobar degeneration.
|
22699846 |
2012 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.
|
21943955 |
2012 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Synaptic changes in frontotemporal lobar degeneration: correlation with MAPT haplotype and APOE genotype.
|
21073671 |
2011 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most interestingly, CRMP2 phosphorylation was not increased in frontal cortex from patients with frontotemporal lobar degeneration associated with mutations in MAPT or with Pick bodies.
|
21860090 |
2011 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal lobar degeneration-associated pathologies segregated based on their cerebral atrophy profiles, according to the following scheme: asymmetric, relatively localized (predominantly temporal lobe) atrophy (TDP-43 type C); relatively symmetric, relatively localized (predominantly temporal lobe) atrophy (microtubule-associated protein tau mutations); strongly asymmetric, distributed atrophy (Pick's disease); relatively symmetric, predominantly extratemporal atrophy (corticobasal degeneration, fused-in-sarcoma pathology).
|
21908872 |
2011 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MAPT mutations are associated with disorders within the frontotemporal lobar degeneration spectrum.
|
20838030 |
2011 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration.
|
19940479 |
2009 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.
|
19091059 |
2008 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MAPT gene duplications are not a cause of frontotemporal lobar degeneration.
|
17707586 |
2007 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pathological tau protein inclusions have long been recognized to define the diverse range of neurodegenerative disorders called the tauopathies, which include Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration.
|
16987883 |
2006 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The neuropathology of frontotemporal lobar degeneration with respect to the cytological and biochemical characteristics of tau protein.
|
14720172 |
2004 |