Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice. 31813996

2020

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. 27692902

2016

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. 27777137

2016

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE We suggested that lovastatin is a potential disease-modifying agent for LRRK2-G2019S parkinsonism. 26931464

2016

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human LRRK2 G2019S carriers. 26251043

2015

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets. 24355527

2014

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive degeneration of substantia nigra pars compacta (SNpc) dopaminergic neurons and parkinsonism phenotypes of motor dysfunction. 22539006

2012

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE We aim to characterize these compensatory mechanisms and early disease-related changes by quantifying movement-related cerebral function in subjects at significantly increased risk of developing Parkinson's disease, namely carriers of a leucine-rich repeat kinase 2-G2019S mutation associated with dominantly inherited parkinsonism. 23250886

2012

dbSNP: rs34637584
rs34637584
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

dbSNP: rs34637584
rs34637584
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

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The study provides support for a common ancestor in Norwegian families with LRRK2 p.G2019S parkinsonism. 20621541

2010

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE In addition, evaluation of LRRK1 variants in our large Lrrk2 p.G2019S-parkinsonism series from a Tunisian (n=145) identified a missense mutation (p.L416M) resulting in an average 6.2 years younger age at disease onset. 20144646

2010

dbSNP: rs34637584
rs34637584
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

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE In this brain bank-based series, LRRK2 G2019S mutation occurred in patients with parkinsonism associated with either typical brainstem LB pathology or non-specific nigral degeneration. 18353371

2008

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Odor identification is diminished in LRRK2 G2019S mutation parkinsonism but the asymptomatic carriers of the mutation had normal olfaction. 18809839

2008

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE We report a Brazilian male expressing both late-onset AD and slowly progressive parkinsonism signs, and who presented the most frequent LRRK2 mutation (p.G2019S). 19072560

2008

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism. 18337586

2008

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive parkinsonism, and severe levodopa-induced dyskinesia was observed in the patient carrying the LRRK2 and parkin mutations. 17388990

2007

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in approximately 1% of sporadic cases of Parkinsonism. 17230458

2007

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are similar to those of typical Parkinson disease. 16966501

2006

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Furthermore, G2019S was not found in 18 patients with Gaucher disease who developed parkinsonian manifestations and 11 other Gaucher probands with parkinsonism in a first degree relative. 16781064

2006

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. 16437559

2006

dbSNP: rs34637584
rs34637584
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

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE In summary, our study demonstrates that LRRK2 G2019S accounts for parkinsonism in several families within Europe and North America. 15726496

2005