rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Although cognitive decline has been recognized as a feature of the full-blown clinical picture of p.A53T related parkinsonism, a predominant frontotemporal dementia-like phenotype at presentation has not been previously described.
|
28012952 |
2017 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation.
|
11261505 |
2001 |
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.
|
11376188 |
2001 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Fibrillar accumulation of A53T mutant α-synuclein (A53T-AS) in Lewy bodies is a symptom of Parkinsonism.
|
28786917 |
2017 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
For this study, SIRT3-myc was administered both before and after viral induction of parkinsonism with the AAV-expressing mutant (A53T) α-synuclein.
|
28673739 |
2017 |
rs542171324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hence, alpha-synuclein p.A53V homozygous mutation leads to a distinct phenotype of progressive parkinsonism and cognitive decline, commonly observed in patients with SNCA missense mutation or multiplications.
|
28666710 |
2017 |
rs201106962
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia.
|
23457019 |
2013 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.
|
31229470 |
2019 |
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Six α-synuclein (aSyn) point mutations are currently known to be associated with familial parkinsonism: A30P, E46K, H50Q, G51D, A53E, and A53T.
|
30605594 |
2019 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This study demonstrate that curcumin protected against A53T mutant α-synuclein-induced cell death via inhibition of oxidative stress and the mitochondrial cell death pathway, suggesting that curcumin may be a candidate neuroprotective agent for A53T α-synuclein-linked Parkinsonism, and possibly for other genetic or sporadic forms of PD.
|
21237271 |
2011 |
rs104893875
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies.
|
16001411 |
2005 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens.
|
29233723 |
2018 |