|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene.
|
21424531 |
2011 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To the most important recentdiscoveries belong TAR DNA binding protein [TARDBP or TDP-43] and the fused in sarcoma gene [FUS] and their implication in these disorders.FTD and ALS are the focus of this review which aims to 1. summarize clinical features by describing the diagnostic criteria and specific symptomatology, 2. describe the morphological aspects and related pathology, 3. describe the genetic factors associated with the diseases and 4. summarize the current status of clinical trials and treatment options.
|
21222600 |
2011 |
|
Frontotemporal dementia
|
0.200 |
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 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the case of ALS and FTD, these protein aggregates are found in the cytoplasm of affected neurons and contain certain RNA-binding proteins (RBPs), namely the TAR DNA-binding protein of 43 kDa (TDP-43) and the fused in sarcoma (FUS) gene product.
|
30486313 |
2018 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
On the basis of the nature of the characteristic protein inclusions, frontotemporal lobar degeneration (FTLD) can be subdivided into the common FTLD-tau and FTLD-TDP as well as the less common FTLD-FUS and FTLD-UPS.
|
22355793 |
2012 |
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Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We propose that mutations in FUS and hexanucleotide expansions in C9orf72 and aging all converge on the impairment of nucleocytoplasmic transport, which results in the hallmark pathological feature of ALS/FTD - cytoplasmic aggregation of TDP-43 or FUS.
|
27087014 |
2016 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Inclusions containing Fused in Sarcoma (FUS) are found in familial and sporadic cases of the incurable progressive motor neuron disease amyotrophic lateral sclerosis and in a common form of dementia, frontotemporal dementia.
|
25447237 |
2015 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Aggregation of fused in sarcoma (FUS) protein, and mutations in FUS gene, are causative to a range of neurodegenerative disorders including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
|
29425337 |
2018 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The link between RNA processing and ALS was further strengthened by the discovery that another genetic locus linking familial ALS (fALS) and FTD was due to mutation of the fused in sarcoma (FUS) gene.
|
22105541 |
2011 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that cytoplasmic FUS aggregates impair dendritic mRNA trafficking and translation, in turn leading to dendritic homeostasis disruption and the development of FTD phenotypes.
|
28928015 |
2017 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Collectively, our evidence demonstrates that human ALS/FTD-linked mutations in FUS induce a gain of toxicity that includes stress-mediated suppression in intra-axonal translation, synaptic dysfunction, and progressive age-dependent motor and cognitive disease without cytoplasmic aggregation, altered nuclear localization, or aberrant splicing of FUS-bound pre-mRNAs.VIDEO ABSTRACT.
|
30344044 |
2018 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in RNA-binding proteins FUS and TDP-43 have been linked with causing neurodegenerative diseases: amyotrophic lateral sclerosis and frontotemporal dementia.
|
26047658 |
2015 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with FTLD were distributed between FTLD-tau (34 patients: 10 corticobasal degeneration, nine progressive supranuclear palsy, eight Pick's disease, three frontotemporal dementia with parkinsonism associated with chromosome 17, three unclassifiable tauopathy, and one argyrophilic grain disease); FTLD-TDP (55 patients: nine type A including one with motor neuron disease, 27 type B including 21 with motor neuron disease, eight type C with right temporal lobe presentations, and 11 unclassifiable including eight with motor neuron disease), FTLD-FUS (eight patients), and one patient with FTLD-ubiquitin proteasome system positive inclusions (FTLD-UPS) that stained negatively for tau, TDP-43, and FUS.
|
29053860 |
2017 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One case presented with frontotemporal dementia (FTD) indicating that this may be a rare presenting feature in families with FUS mutation.
|
19965854 |
2010 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in fused in sarcoma (Fus) cause familial amyotrophic lateral sclerosis (ALS) and occasionally frontotemporal dementia.
|
30273830 |
2018 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Additionally, we identified 2 previously reported heterozygous insertion and deletion mutations in Exon 5 of FUS; Gly174-Gly175 del GG (g. 4180-4185 delGAGGTG) in an FTD patient and Gly175-Gly176 ins GG (g. 4185-4186 insGAGGTG) in a patient with diagnosis of CBS.
|
21943958 |
2012 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in 7 known genes (MAPT, GRN, C9orf72, VCP, CHMP2B, and, rarely, TARDBP and FUS) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries.
|
24709683 |
2014 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A combination of whole-exome sequencing, Sanger sequencing and fragment analysis/Southern blot was performed in order to identify pathogenic mutations and novel variants in these genes as well as other FTD-related genes such as the 'charged multivesicular body protein 2B' (CHMP2B), the 'FUS RNA binding protein' (FUS), the 'TAR DNA binding protein' (TARDBP), the 'sequestosome1' (SQSTM1), and the 'valosin containing protein' (VCP).
|
27632209 |
2016 |
|
Frontotemporal dementia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The search for monogenic causes has repeatedly failed until recent identification of three disease-causing mutations in FUS (fused in sarcoma), a gene previously linked to a rare forms of familial amyotrophic lateral sclerosis with frontotemporal dementia.
|
23660545 |
2013 |
|
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
FUS (fused in sarcoma) mislocalization and cytoplasmic aggregation are hallmark pathologies in FUS-related amyotrophic lateral sclerosis and frontotemporal dementia.
|
29194538 |
2018 |
|
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In addition to familial ALS, abnormal aggregates of FUS are present in a portion of FTD and other neurodegenerative diseases independent of their mutations.
|
31230528 |
2019 |
|
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Accumulation of tau, TDP-43 or FUS cytoplasmic aggregates characterize molecularly distinct and non-overlapping FTD subtypes.
|
27502124 |
2016 |
|
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In fact, it has been demonstrated that lncRNAs are dysregulated upon either depletion or unavailability of functional TDP-43 or FUS/TLS in a range of different models and diseases, including post-mortem samples from subjects with FTLD-TDP.
|
26220395 |
2015 |
|
Frontotemporal dementia
|
0.200 |
Biomarker
|
disease |
BEFREE |
The seminal discoveries of accumulation of TDP-43 in most cases of ALS and the most frequent form of FTD, frontotemporal lobar degeneration with ubiquitinated inclusions, followed by identification of FUS as the novel pathological protein in a small subset of patients with ALS and various FTD subtypes provide clear evidence that these disorders are related.
|
20864052 |
2010 |