rs104893877, SNCA

N. diseases: 59
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.030 GeneticVariation BEFREE Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history. 29233723 2018
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.030 GeneticVariation BEFREE Therefore, the unraveled tau-mediated signaling cascade may contribute to the pathogenesis of dementia in A53T α-synuclein-linked familial PD cases, as well as some subgroups of PD cases with extensive tau pathology.<b>SIGNIFICANCE STATEMENT</b> Here, we report mutation-specific postsynaptic deficits that are caused by A53T mutant α-synuclein, which is linked to familial Parkinson's disease (PD). 30249789 2018
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.030 GeneticVariation BEFREE Moreover, cerebrospinal fluid (CSF) levels of tau, p-tau and amyloid Aβ42 were measured in these patients and in an additional cohort of 5 symptomatic and 2 asymptomatic p.A53T carriers without an initial manifestation of dementia. 28012952 2017