|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant association between patients with parkinsonism exposed to pesticides and C3435T polymorphism of the MDR1 gene was found.
|
12724617 |
2003 |
|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
G2677T/A and C3435T genotypes were not associated to psychopathological symptoms, efficacy of treatment and risk for parkinsonism.
|
20060871 |
2010 |
|
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 |
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 |
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.
|
31229470 |
2019 |
|
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 |
|
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 |
|
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 |
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation.
|
11261505 |
2001 |
|
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 |
|
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 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.
|
11376188 |
2001 |
|
rs104894685
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis.
|
16116125 |
2005 |
|
rs1057518882
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057519629
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
|
27541164 |
2016 |
|
rs111501952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found that the proband and his mother carried the G2385R variant of the LRRK2, a strong risk factor for PD in Asians and the rare V1450I variant, although only the proband showed symptoms of parkinsonism.No mutations were found in parkin.
|
23124679 |
2013 |
|
rs112176450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
|
rs113388242
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
|
rs113994097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Parkinsonism is one of the phenotypic features associated also with the W748S mutation.
|
18321754 |
2008 |
|
rs113994099
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The clinical features of parkinsonism related to the Y955C mutation in a total of 16 patients, including our two cases, are indistinguishable from iPD.
|
23673011 |
2013 |
|
rs113994099
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Collectively, these results offer a biochemical link between the observed oxidative stress in model systems and parkinsonism in patients, suggesting that patients harboring the Y955C POLG mutation may undergo enhanced oxidative stress and DNA mutagenesis.
|
17725985 |
2007 |
|
rs121908683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the segregation of R632W with disease in an Iranian consanguineous dystonia-parkinsonism pedigree.
|
19087156 |
2009 |
|
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism.
|
10661862 |
1999 |
|
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
|
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Leu205Pro polymorphism is a rare mutation that is reported to cause Parkinsonism in infancy for individuals who are homozygous for the mutated type.
|
9613851 |
1998 |