Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Insoluble, hyperubiquitylated TAR DNA binding protein of 43 kDa (TDP-43) in the central nervous system characterizes frontotemporal dementia and ALS in many individuals with these neurodegenerative diseases.
|
31780563 |
2020 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, we tested male and female SOD1 <sup>G93A</sup> mice for the first time before the onset of debilitating motor impairments in behavioural domains relevant to both ALS and frontotemporal dementia.
|
31412164 |
2020 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Most of reports describing ASL-FTD cases show a strong association between ALS and the behavioural form of FTD.
|
30146930 |
2019 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia).
|
31702461 |
2019 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
All five compounds also inhibited RAN translation of expanded GGGGCC repeats associated with ALS and FTD.
|
31649034 |
2019 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in known frontotemporal dementia (FTD)/ALS genes were identified in 100% of these familial PPA cases but only 50% of familial PPA-ALS cases, suggesting the involvement of novel genetic variants in this underacknowledged phenotype.
|
30770429 |
2019 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genotype/phenotype correlation reveals clinical pleiotropy for several ALS genes, which can be linked, for example, to ataxia or Parkinsonian syndromes beyond classical ALS and frontotemporal dementia (FTD) phenotypes.
|
31335339 |
2019 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
No mutation in the LCD of TIA1 was found in the familial ALS and FTD patients.
|
29773329 |
2018 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features.
|
30454072 |
2018 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the first stage, 12 studies involving 4173 ALS/FTD patients were included.
|
29349657 |
2018 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together, these findings from ALS genetics provide new insight into therapies that target genetically distinct subsets of ALS and FTD.
|
28270533 |
2018 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
hnRNPA2, a component of RNA-processing membraneless organelles, forms inclusions when mutated in a syndrome characterized by the degeneration of neurons (bearing features of amyotrophic lateral sclerosis [ALS] and frontotemporal dementia), muscle, and bone.
|
29358076 |
2018 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Modules were also examined for their overlap with TDP-43 protein-protein interactions, revealing one module enriched with RNA-binding proteins and other causal ALS genes that increased in FTD/ALS and FTD cases.
|
29191947 |
2018 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BNIP1 expression was significantly reduced in spinal cord motor neurons from patients with ALS (4 controls: mean age, 60.5 years, mean [SE] value, 3984 [760.8] arbitrary units [AU]; 7 patients with ALS: mean age, 56 years, mean [SE] value, 1999 [274.1] AU; P = .02), in an ALS mouse model (mean [SE] value, 13.75 [0.09] AU for 2 SOD1 WT mice and 11.45 [0.03] AU for 2 SOD1 G93A mice; P = .002) and in brains of patients with PSP (80 controls: 39 females; mean age, 82 years, mean [SE] value, 6.8 [0.2] AU; 84 patients with PSP: 33 females, mean age 74 years, mean [SE] value, 6.8 [0.1] AU; β = -0.19; P = .009) or FTD (11 controls: 4 females; mean age, 67 years; mean [SE] value, 6.74 [0.05] AU; 17 patients with FTD: 10 females; mean age, 69 years; mean [SE] value, 6.53 [0.04] AU; P = .005).
|
29630712 |
2018 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The comprehensive characterisation of striatal and thalamic pathology along the ALS-FTD spectrum is particularly timely, as dysfunction of frontostriatal and cortico-thalamic networks contribute to phenotype-defining cognitive, behavioral, and motor deficits.
|
29423814 |
2018 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cluster analysis revealed significant class separation of FTD-ALS from controls.
|
28827549 |
2017 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fifty-seven percent consider a family history of frontotemporal dementia and 48.5% the presence of a known ALS genetic mutation as sufficient for a diagnosis of FALS.
|
28159885 |
2017 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated the primary motor cortices isolated from post-mortem normal control subjects, patients with familial ALS (fALS), sporadic ALS (sALS), ALS with frontotemporal dementia (FTD-ALS), and Alzheimer's disease (AD), and found profound apical dendrite degeneration of Betz cells in both fALS and sALS, as well as FTD-ALS patients.
|
28165465 |
2017 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review summarizes the key points leading up to our current understanding of the genetic, clinical and neuropathological overlap between FTD and ALS.
|
28449882 |
2017 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.
|
28069311 |
2017 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previous studies indicate that causative mutations in AD and FTD/ALS genes can be found in clinical familial AD.
|
29091718 |
2017 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Neuronal inclusions of aggregated RNA-binding protein fused in sarcoma (FUS) are hallmarks of ALS and frontotemporal dementia subtypes.
|
28790177 |
2017 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings suggest that PLS is part of the FTD-MND continuum and would favour viewing it as a subtype of ALS.
|
28745069 |
2017 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Bidirectional Transcriptional Inhibition as Therapy for ALS/FTD Caused by Repeat Expansion in C9orf72.
|
28009271 |
2016 |