Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893877
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

dbSNP: rs104893877
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

dbSNP: rs104893877
rs104893877
0.070 GeneticVariation BEFREE Fibrillar accumulation of A53T mutant α-synuclein (A53T-AS) in Lewy bodies is a symptom of Parkinsonism. 28786917

2017

dbSNP: rs104893877
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

dbSNP: rs104893877
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

dbSNP: rs104893877
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

dbSNP: rs104893877
rs104893877
0.070 GeneticVariation BEFREE Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. 11261505

2001