Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.050 | GeneticVariation | BEFREE | Conclusions Primary dementia with prominent frontotemporal signs is a new phenotypical expression of P102L-related GSS that coexists in the same family with the ataxic form of the disease. | 19030774 | 2008 |
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0.050 | GeneticVariation | BEFREE | Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. | 21167505 | 2011 |
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0.050 | GeneticVariation | BEFREE | Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later. | 28131204 | 2017 |
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0.050 | GeneticVariation | BEFREE | Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Sträussler-Scheinker syndrome P102L mutation complicated with dementia. | 12200619 | 2002 |
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0.050 | GeneticVariation | BEFREE | In contrast, a recent case with proven P102L mutation of the PRNP gene had rapidly developing dementia and severe cortical damage indistinguishable from the clinicopathological phenotype of Creutzfeldt-Jakob disease (CJD). | 8520719 | 1995 |
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0.010 | GeneticVariation | BEFREE | PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. | 15824374 | 2005 |
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0.010 | GeneticVariation | BEFREE | This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia. | 26268049 | 2016 |