| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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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 |
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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 |
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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 |
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0.020 | GeneticVariation | BEFREE | Recently, a new missense mutation (H50Q) in α-Syn was described in patients with a familial form of PD and dementia. | 24936070 | 2014 |
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0.020 | 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 |
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0.010 | GeneticVariation | BEFREE | PD patients carrying the protective GG genotype at SNCA rs11931074 may be at significantly higher risk of dementia than patients with other genotypes. | 31102707 | 2019 |
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0.010 | GeneticVariation | BEFREE | Mutations in the gene for α-syn, including the E46K missense mutation, are sufficient to cause Parkinson disease as well as other synucleinopathies like dementia with LBs. | 21846727 | 2011 |