|
rs111501952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found that the proband and his mother carried the G2385R variant of the LRRK2, a strong risk factor for PD in Asians and the rare V1450I variant, although only the proband showed symptoms of parkinsonism.No mutations were found in parkin.
|
23124679 |
2013 |
|
rs33939927
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Clinically, p.R1441C carriers had typical levodopa-responsive parkinsonism with tremor as the most common presenting feature.
|
18197194 |
2008 |
|
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 |
|
rs33939927
|
|
|
0.030 |
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 |
|
rs34015634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyzing family members of the proband with p.I2012T revealed co-segregation of the variant and parkinsonism.
|
27628070 |
2016 |
|
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 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The study provides support for a common ancestor in Norwegian families with LRRK2 p.G2019S parkinsonism.
|
20621541 |
2010 |
|
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 |
|
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 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are similar to those of typical Parkinson disease.
|
16966501 |
2006 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice.
|
31813996 |
2020 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We suggested that lovastatin is a potential disease-modifying agent for LRRK2-G2019S parkinsonism.
|
26931464 |
2016 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism.
|
16437559 |
2006 |
|
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 |
|
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 |
|
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 |