Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this international, retrospective cohort study, we collected data on age at symptom onset, age at death, and disease duration for patients with pathogenic mutations in the GRN and MAPT genes and pathological expansions in the C9orf72 gene through the Frontotemporal Dementia Prevention Initiative and from published papers.
|
31810826 |
2020 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Tauopathies such as Alzheimer's disease (AD), Pick's disease (PiD), Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) etc. represent a group of age-related neurodegenerative disorders in which tau protein loses its normal conformation mostly due to hyperphosphorylation and subsequent formation of the aggregates of defined shapes, known as Neurofibrillary Tangles (NFTs).
|
31715291 |
2020 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
Of the cohort of 73 participants, eight mutation carriers (three GRN, five MAPT) developed clinical features of frontotemporal dementia ('converters').
|
30508042 |
2019 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with autosomal dominant pattern of inheritance.
|
31402617 |
2019 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
Computational Investigation of RNA A-Bulges Related to the Microtubule-Associated Protein Tau Causing Frontotemporal Dementia and Parkinsonism.
|
30517788 |
2019 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Four patients with N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT underwent [<sup>11</sup> C]PBB3-PET to estimate regional tau loads.
|
30773680 |
2019 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we examined regional profiles of tau aggregation and neurodegeneration in 40 brain regions in 8 patients with FTLD-tau/MAPT and 7 with Pick's disease (PiD), a sporadic form of FTLD-tau that often presents with bvFTD.
|
31640778 |
2019 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
The assembly of tau protein into abnormal filaments and brain cell degeneration are characteristic of a number of human neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia and parkinsonism linked to chromosome 17.
|
30905766 |
2019 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
Intracellular tau protein aggregates are a pathological hallmark of neurodegenerative tauopathies, including Alzheimer disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Pick disease.
|
30193298 |
2019 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain).
|
31537395 |
2019 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The microtubule binding protein tau is strongly implicated in multiple neurodegenerative disorders, including frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), which is caused by mutations in tau.
|
29138281 |
2018 |
Pick Disease of the Brain
|
0.800 |
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 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
Structures of filaments from Pick's disease reveal a novel tau protein fold.
|
30158706 |
2018 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
P364S MAPT mutation is characterized clinically by a variable combination of frontotemporal dementia, parkinsonism and motor neurone disease of short duration, and neuropathologically by a widespread uniform distribution of all known neuronal tau inclusions in one family member.
|
29215752 |
2018 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport.
|
29729423 |
2018 |
Pick Disease of the Brain
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The pre-mRNA of MAPT is well studied and its aberrant pre-mRNA splicing is associated with frontotemporal dementia.
|
29729314 |
2018 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
Tauopathies are neurodegenerative diseases characterized by TAU protein-related pathology, including frontotemporal dementia and Alzheimer's disease among others.
|
30036493 |
2018 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
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 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia.
|
30893702 |
2018 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hyperphosphorylated tau protein is a key pathology in Alzheimer's disease (AD), frontotemporal dementia, chronic traumatic encephalopathy, and Parkinson's disease.
|
29914030 |
2018 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
|
27859539 |
2017 |
Pick Disease of the Brain
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Expression and purification of tau protein and its frontotemporal dementia variants using a cleavable histidine tag.
|
27663563 |
2017 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.
|
27082848 |
2017 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MAPT mutations cause neurodegenerative diseases such as frontotemporal dementia but, strikingly, patients with the same mutation may have different clinical phenotypes.
|
28978354 |
2017 |
Pick Disease of the Brain
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finding MAPT Mutations in Frontotemporal Dementia and Other Tauopathies.
|
27975259 |
2017 |