|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There was less LAMP-1 immunostaining in FTLD-tau with MAPT mutations, and FTLD-tau with Pick bodies, compared to FTLD-TDP types A and B, and less LAMP-1 immunostaining in FTLD-TDP type C than in FTLD-TDP types A and B.
|
29790198 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, FTLD-tau cases with MAPT mutations had similar patterns and severity of neuropathological features to sporadic FTLD-tau subtypes and could be classified into: Pick's disease (K257T), corticobasal degeneration (S305S, IVS10+16, R406W), progressive supranuclear palsy (S305S) or globular glial tauopathy (P301L, IVS10+16).
|
29253099 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genes involved in the etiology of FTLD include MAPT, GRN and C9orf72.
|
28803444 |
2018 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
FTD usually belongs to the frontotemporal lobar degeneration (FTLD) disease group, and its familial forms are dominantly inherited and linked to a group of genes relevant to frontal and temporal brain pathology, such as MAPT, GRN, C9ORF72, TARDBP, CHMP2B, VCP, and FUS.
|
29578490 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pathological developments leading to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are associated with misbehavior of several key proteins, such as SOD1 (superoxide dismutase 1), TARDBP/TDP-43, FUS, C9orf72, and dipeptide repeat proteins generated as a result of the translation of the intronic hexanucleotide expansions in the C9orf72 gene, PFN1 (profilin 1), GLE1 (GLE1, RNA export mediator), PURA (purine rich element binding protein A), FLCN (folliculin), RBM45 (RNA binding motif protein 45), SS18L1/CREST, HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1), HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1), ATXN2 (ataxin 2), MAPT (microtubule associated protein tau), and TIA1 (TIA1 cytotoxic granule associated RNA binding protein).
|
28980860 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic research over the past two decades in FTLD families led to the identification of three common FTLD genes (microtubule-associated protein tau, progranulin, and chromosome 9 open reading frame 72) and a small number of rare FTLD genes, explaining the disease in almost all autosomal dominant FTLD families but only a minority of apparently sporadic patients or patients in whom the family history is less clear.
|
27009575 |
2016 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Moreover, proteomic analysis highlighted correlations between reduced Tau protein level, synaptic impairment and massive reactive astrogliosis in these FTLD-GRN cases.
|
27435172 |
2016 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These include MAPT mutations with FTLD-Tau and GRN, C9orf72, VCP and TARDBP with FTLD-TDP.
|
25549971 |
2015 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Unlike other mouse models where behavioral and neuropathologic changes are induced by transgenic tau harboring MAPT mutations pathogenic for frontotemporal lobar degeneration (FTLD), the mice described here express the normal tau sequence.
|
26041339 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TDP-43 pathological changes, of the kind seen in many elderly individuals with Alzheimer's disease, were seen in only two FTLD-tau cases--a 70-year-old male with exon 10 + 13 mutation in MAPT, and a 73-year-old female with corticobasal degeneration.
|
24861427 |
2014 |
|
Frontotemporal Lobar Degeneration
|
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 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our report suggests that FTLD with IVS10+3G>A MAPT mutation causes damage mainly to the central nervous system and induces neuropathological changes, depending on the haplotypes of MAPT.
|
25574752 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To characterize patients with frontotemporal lobar degeneration (FTLD) with a repeat expansion mutation in the gene C9orf72, and to determine whether there are differences in the clinical presentation compared with FTLD carriers of a mutation in GRN or MAPT or with patients with FTLD without mutation.
|
23338682 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since C9ORF72 expansions are as frequent as PGRN mutations in patients with pure FTLD, both should be investigated, except in early familial FTLD (<50) where MAPT mutations should be searched for first.
|
24011980 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.
|
23053136 |
2013 |