Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.860 | GeneticVariation | BEFREE | Patients with idiopathic Parkinson's disease (n = 63), dementia with Lewy bodies (n = 8), and E46K mutation carriers in the α-synuclein gene (E46K-SNCA) (n = 4) and 34 controls underwent Spectralis optical coherence tomography macular scans and a comprehensive battery of visual function and cognition tests. | 31136022 | 2019 |
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0.860 | GeneticVariation | BEFREE | We studied 7 E46K-SNCA carriers (3 dementia with Lewy bodies, 2 pure autonomic failure, 1 PD and 1 asymptomatic), 2 PARK2 carriers and 2 healthy controls to quantify intraepidermal nerve fiber density and p-synuclein deposition with cervical skin punch biopsies (immunohistochemistry against anti PGP9.5/UCHL-1, TH and p-synuclein) and sudomotor function with electrochemical skin conductance (ESC) (SudoScan). | 31178336 | 2019 |
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0.860 | GeneticVariation | BEFREE | An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance. | 28911198 | 2017 |
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0.860 | 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 |
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0.860 | GeneticVariation | BEFREE | Recently, a third missense mutation (E46K) in alpha-synuclein was described in an inherited form of dementia with Lewy bodies. | 15498564 | 2004 |
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0.860 | GeneticVariation | UNIPROT | The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. | 14755719 | 2004 |
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0.860 | GeneticVariation | BEFREE | The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. | 14755719 | 2004 |
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T | 0.860 | CausalMutation | CLINVAR |