Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. 11261505

2001

dbSNP: rs104893878
rs104893878
0.020 GeneticVariation BEFREE Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. 11376188

2001

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: rs542171324
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

dbSNP: rs201106962
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

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: rs104893878
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

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: rs104893875
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

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