Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.100 | GeneticVariation | BEFREE | Using Cox proportional hazard models to evaluate the risk of parkinsonism among family members of PD subjects, having a daughter with PD compared with a son was associated with increased risk of parkinsonism in the parent (HR 2.59, p=0.014) as was having a child with a LRRK2 G2019S mutation (HR 3.19, p=0.003). | 21511009 | 2011 |
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0.100 | GeneticVariation | BEFREE | We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and the affected proband has tau-immunopositive neurofibrillary tangle pathology. | 17060589 | 2006 |
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0.100 | GeneticVariation | BEFREE | Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S leucine-rich repeat kinase 2 (LRRK2) parkinsonism, response to surgery in other LRRK2 mutations has not been previously reported. | 23938256 | 2012 |
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0.100 | GeneticVariation | BEFREE | A series of 106 patients with isolated or familial Parkinsonism underwent clinical evaluation and genetic testing for the LRRK2 G2019S mutation which was identified in 34/106 patients (32%). | 20933457 | 2010 |
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0.010 | GeneticVariation | BEFREE | The leucine-rich repeat kinase 2 (Lrrk2) G2385R substitution is associated with familial parkinsonism, late-, and early-onset Parkinson's disease in ethnic Chinese Taiwanese. | 17222580 | 2007 |
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0.010 | GeneticVariation | BEFREE | A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. | 18952485 | 2009 |
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0.010 | GeneticVariation | BEFREE | Bilateral STN-DBS in LRRK2-parkinsonism with the Y1699C mutation can be as effective as in sporadic PD. | 23938256 | 2012 |