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

dbSNP: rs33939927
rs33939927
0.030 GeneticVariation BEFREE Further analysis of family members of the proband with the p.R1441G mutation revealed that her mother and first cousin shared the same mutation and parkinsonism. 24973808

2014