Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Prominent examples are amyloid beta and tau in Alzheimer's disease, α-synuclein in Parkinson's disease and transactive response DNA binding protein 43 kDa (TDP-43) in ALS and FTD.
|
31132469 |
2020 |
Frontotemporal dementia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
<b>Results:</b> Plasma α-synuclein level was significantly increased in patients with PD and APS when compared with controls and FTD without parkinsonism (<i>p</i> < 0.01).
|
29755341 |
2018 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A screen of Greek patients presenting with frontotemporal dementia failed to identify any additional subjects with the p.A53T SNCA mutation.
|
28012952 |
2017 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The SNCA duplication case presented with a clinical phenotype of frontotemporal dementia with marked behavioural changes, pyramidal signs, postural hypotension and transiently levodopa responsive parkinsonism.
|
26306801 |
2015 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To report a novel family carrying a heterozygous 6.4 Mb duplication of the SNCA locus with an atypical clinical presentation strongly reminiscent of frontotemporal dementia and late-onset pallidopyramidal syndromes and study phenotype-genotype correlations in SNCA locus duplications.
|
25003242 |
2014 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
It is now clear that the majority of FTLD cases containing tau- and alpha-synuclein-negative, ubiquitin-positive inclusions (FTLD-U) are FTLD-TDP.
|
21607722 |
2011 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ubiquitin-positive, tau- and alpha-synuclein-negative inclusions are hallmarks of frontotemporal lobar degeneration with ubiquitin-positive inclusions and amyotrophic lateral sclerosis.
|
17023659 |
2006 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, although the tau pathologies of Guam PDC share similarities with AD, the composite Guam PDC neuropathology profile of tau, alpha-synuclein and 8, 12-iso-iPF(2alpha)-VI isoprostane reported here more closely resembles that seen in other tauopathies including frontotemporal dementias (FTDs), which may imply that Guam PDC and FTD tauopathies share underlying mechanisms of neurodegeneration.
|
16609851 |
2006 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage to the alpha-synuclein gene and the Frontotemporal dementia with parkinsonism locus on chromosome 17 had previously been excluded in the families included in this study.
|
12882651 |
2003 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the tau gene in familial forms of frontotemporal dementia and in the alpha-synuclein gene in familial cases of Parkinson's disease have provided causal links between the dysfunction of these proteins and neurodegeneration.
|
11377973 |
2001 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Importantly, the discovery of mutations in the tau gene in familial forms of frontotemporal dementia and of mutations in the alpha-synuclein gene in familial forms of Parkinson's disease has established that dysfunction of tau protein and alpha-synuclein can cause neurodegeneration.
|
11260802 |
2001 |
Frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial parkinsonism with dementia, linked to chromosome 17 (frontotemporal dementia with Parkinsonism (FTDP-17), and other tauopathies pathologically resembling PD plus AD, are often related to mutations of the tau gene, whereas familial PD with alpha-synuclein and Parkin mutations usually show no cognitive impairment.
|
10961431 |
2000 |
Frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Over the past year, mutations in the genes for tau and alpha-synuclein have been identified as the genetic causes of some familial forms of frontotemporal dementia and Parkinson's disease, respectively.
|
9811617 |
1998 |