|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TARDBP/TDP-43 (TAR DNA binding protein) proteinopathies are a common feature in a variety of neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), and Alzheimer disease (AD).
|
31690171 |
2019 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although AD with TDP-43/Hippocampal sclerosis pathology was greater in number in women than men, the difference was not significant after adjustments for age at death and other confounders.
|
31128096 |
2019 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TDP-43 inclusions are also found in up to approximately 60% of Alzheimer's disease (AD) brains.
|
25442115 |
2015 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
She was found to have multiple pathological processes: corticobasal degeneration (CBD), Alzheimer's disease (AD), and TAR DNA-binding protein (TDP)-43 type A.
|
31033382 |
2019 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls.
|
25604855 |
2015 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In order to examine the role of TDP-43 in AD, we developed a transgenic mouse that overexpresses hippocampal and cortical neuronal TDP-43 in a mouse expressing familial mutations (K595N and M596L) in APP and presenilin 1 (PSEN1ΔE9).
|
28416393 |
2017 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
UBQLN-dependent aggregation required the UBQLN UBA domain, was mediated by non-overlapping regions of TDP-43, and was abrogated by a mutation in UBQLN previously linked to Alzheimer disease.
|
19112176 |
2009 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Today, the AD&FTD Mutation Database provides curated, referenced information of 764 genetic variants in APP, PSEN1, and PSEN2 associated with AD and GRN, C9orf72, TBK1, MAPT, VCP, CHMP2B, TARDBP, and FUS associated with FTD and related diseases.
|
29956270 |
2018 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progranulin gene (GRN) mutations cause frontotemporal lobar degeneration (FTLD) with TDP43-positive inclusions, although its clinical phenotype is heterogeneous and includes patients classified as behavioral variant-FTLD (bvFTLD), progressive non-fluent aphasia (PNFA), corticobasal syndrome, Alzheimer's disease (AD), or Parkinson's disease (PD).
|
22647257 |
2012 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For this study we included brains of early onset AD, late onset AD, primary age-related tauopathy (PART), cerebral amyloid angiopathy (CAA), frontotemporal lobar degeneration (FTLD) with tau or TAR DNA-binding protein 43 (TDP-43) inclusions, dementia with Lewy bodies (DLB), Parkinson's disease (PD) and control cases without brain pathology.
|
30092839 |
2018 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified 751 participants with an AD pathological spectrum diagnosis and completed Aβ, tau, and TDP-43 data who were enrolled in the Mayo Clinic Alzheimer Disease Research Center, Mayo Clinic Alzheimer Disease Patient Registry, or the population based Mayo Clinic Study of Aging and died between May 12, 1999, and December 31, 2015.
|
30422173 |
2018 |
|
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
We found a higher frequency of pathological TDP-43 in AD (36-56%) and in DLB (53-60%) than previously reported.
|
19139911 |
2009 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The semantic variant of primary progressive aphasia (svPPA) is typically associated with frontotemporal lobar degeneration (FTLD) with longTAR DNA-binding protein (TDP)-43-positive neuropil threads and dystrophic neurites (type C), and is only rarely due to a primary tauopathy or Alzheimer's disease.
|
28986472 |
2018 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
TDP-43 is an RNA-binding protein active in splicing that concentrates into membraneless ribonucleoprotein granules and forms aggregates in amyotrophic lateral sclerosis (ALS) and Alzheimer's disease.
|
29438978 |
2018 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
TDP-43 inclusions are also found in affected neurons of patients with other neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and Alzheimer's disease.
|
28358904 |
2017 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transactive response DNA-binding protein of 43 kDa (TDP-43), a third protein, has recently garnished a lot of attention in Alzheimer's disease where it is associated with memory loss and amygdala and hippocampal atrophy.
|
31056344 |
2019 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings support a role for nuclear depletion of TDP-43 in the pathogenesis of AD and provide strong rationale for developing novel therapeutics to alleviate the depletion of TDP-43 and functional antemortem biomarkers associated with its nuclear loss.
|
27785573 |
2016 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Resistance and resilience to Alzheimer's disease pathology are associated with reduced cortical pTau and absence of limbic-predominant age-related TDP-43 encephalopathy in a community-based cohort.
|
31174609 |
2019 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In controls, higher age at death was associated with prevalence of TDP-43 pathology and higher TDP-43 in AD stage, suggesting that this type of TDP-43 pathology may partly be an age-associated phenomenon.
|
27495267 |
2017 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The neuropathologic traits of interest were pathologic AD according to modified NIA-Reagan criteria, three quantitative measures of AD pathology (global AD pathology score, β-amyloid load and PHFtau tangle density), macro- and micro-scopic infarcts, neocortical Lewy bodies, TDP-43 and hippocampal sclerosis.
|
31269985 |
2019 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
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 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
After accounting for age, apolipoprotein ε4 and other pathologies, TDP-43 had a strong effect on cognition, memory loss and medial temporal atrophy in AD.
|
24659241 |
2014 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In PPA patients with a non-AD profile (presumably FTLD), two different clusters could be identified according to the τP - 181/τT ratio, possibly corresponding to the two major FTLD pathologies (tau and TDP-43).
|
27858708 |
2017 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Despite the relatively small sample size, our results indicate a possible genetic association between TDP- 43 and AD.
|
19851068 |
2009 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent studies demonstrate that several neurodegenerative diseases, including AD exhibit RNA-binding proteins (RBPs) pathologies, including TAR DNA -binding protein (TDP-43), fused in sarcoma (FUS), superoxide dismutase (SOD1) and T-interacting antigen-1 (TIA-1), highlighting the role of RBPs in neurodegeneration.
|
30367664 |
2018 |