|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Data were recorded from 272 patients from the cohort of the German consortium for frontotemporal lobar degeneration (FTLDc): 111 with behavioral variant frontotemporal dementia (bvFTD), 98 with primary progressive aphasia (PPA), 30 with progressive supranuclear palsy Richardson's syndrome, 17 with corticobasal syndrome (CBS) and 16 with amyotrophic lateral sclerosis with frontotemporal dementia (ALS/FTD).
|
30506397 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The findings are conserved among species and are observed in both ALS and ALS-FTLD patients.
|
31666087 |
2019 |
|
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 |
The relationship between oestrogen and executive functioning in ALS females with emerging Frontotemporal Lobar Degeneration (FTLD) supports a neuroendocrine model of FTLD attenuation.
|
27892698 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration.
|
25917047 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent studies report that FTLD/ALS-related proteins TDP-43 and FUS/TLS bind lncRNAs, and that several lncRNAs have binding sites for TDP-43 and/or FUS/TLS.
|
26220395 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While clinical and molecular data, such as the identification of TDP-43 being a common pathological protein (Neumann et al., 2006) have hinted at such a link for years, the identification of what was formally known as "the chromosome 9 FTLD-ALS gene" has provided a foundation for better understanding of the relationship between the two.
|
24915640 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
With this study, we provide further evidence for a putative role of rare mutations in SQSTM1 in the genetic etiology of FTLD and showed that, comparable to other FTLD/ALS genes, SQSTM1 mutations are associated with TDP-43 pathology.
|
24899140 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
|
23746459 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated a role for these ALS genes in frontotemporal lobar degeneration (FTLD).
|
23312802 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
We propose an algorithm based on four criteria to help to pinpoint the genetic cause of FTLD: Presence of ALS in the patient or family; age at onset of FTLD; progranulin plasma level; and other disorders present in the patient or family.
|
24011980 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
MND/ALS-associated SOD1, FUS and TARDBP gene mutations were excluded; however, further investigations revealed that all four of the cases did show a repeat expansion of C9orf72, the recently reported cause of chromosome 9-linked MND/ALS and FTLD.
|
22181065 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied 305 patients with FTLD, 137 with ALS, and 23 with concomitant FTLD and ALS (FTLD-ALS) and 856 controls from Flanders (Belgium); patients were identified from a hospital-based cohort and were negative for mutations in known FTLD and ALS genes.
|
22154785 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pathogenic mutations in the gene encoding TDP-43, TARDBP, have been reported in familial amyotrophic lateral sclerosis (FALS) and, more recently, in families with a heterogeneous clinical phenotype including both ALS and frontotemporal lobar degeneration (FTLD).
|
19618195 |
2009 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we examined abnormal TDP-43 pathology in 13 sporadic ALS (SALS), six familial ALS (FALS) with and without Cu/Zn superoxide dismutase (SOD1) mutations (SOD1-FALS and non-SOD1-FALS), Guam ALS, two frontotemporal lobar degeneration with MND/ALS (FTLD-MND/ALS), one FTLD with ubiquitin-only-immunoreactive inclusions (FTLD-U) and two progressive supranuclear palsy (PSP).
|
19496940 |
2009 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Frontotemporal lobar degeneration with ubiquitin-immunoreactive (ub-ir) inclusions (FTLD-U) has been associated with frontotemporal dementia (FTD) and ALS.
|
17202431 |
2007 |