|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most common mutation in both familial and sporadic PD is the G2019S mutation of leucine-rich repeat kinase 2 (LRRK2) with high prevalence in Ashkenazi Jewish patients and in North African Berber and Arab patients.
|
31330122 |
2019 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
A Y2018F mutation creates a hyperactive phenotype similar to the familial mutation G2019S.
|
31292254 |
2019 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most prevalent PD associated mutation, LRRK2-G2019S is linked to familial and sporadic cases.
|
31621607 |
2019 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this study, we compared the effect of striatal injection of high-capacity adenoviral vectors expressing either a kinase-overactive LRRK2 with the familial G2019S mutation or a kinase-inactive LRRK2 variant in young and old C57BL/6J mice.
|
29550548 |
2018 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
We included nonparkinsonian first-degree relatives of LRRK2 G2019S familial PD cases and unrelated healthy controls participating in established multiplex family LRRK2 cohorts.
|
29665080 |
2018 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, the impact of the p.G2019S mutation of leucine-rich repeat kinase 2 (LRRK2), which is most frequently associated with familial and sporadic PD, on α-synuclein pathology was investigated.
|
30172844 |
2018 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
We find that expression of familial mutant G2019S LRRK2 does not dramatically elevate the pathological burden of α-synuclein or neurodegeneration in neurons.
|
29855356 |
2018 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequency of LRRK2 G2019S mutation was 5.8% in familial and 0.5% in sporadic PD cases.
|
30146349 |
2018 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Portugal has been identified as one of the countries with a high prevalence of LRRK2-G2019S, considered to be the most frequent known cause of familial and sporadic Parkinson's disease (PD).
|
28251720 |
2017 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The p.G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) has been identified as the most prevalent genetic cause of familial and sporadic Parkinson's disease (PD).
|
28826027 |
2017 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD).
|
28683740 |
2017 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among such pathogenic mutations, Gly2019Ser mutation in the LRRK2 kinase domain is the most frequent cause of familial PD in Caucasians and is also found in some apparently sporadic PD cases.
|
26403521 |
2016 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
G2019S, the most frequent mutation, is responsible for both familial and sporadic cases of PD.
|
23227859 |
2013 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the remaining 251 PD patients (25 familial and 226 sporadic) we found ten additional carriers of the heterozygous p.Gly2019Ser</span> and no carriers of the other mutations.
|
23726462 |
2013 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
We decided to evaluate nuclear organization in the context of ageing-associated disorders by focusing on a leucine-rich repeat kinase 2 (LRRK2) dominant mutation (G2019S; glycine-to-serine substitution at amino acid 2019), which is associated with familial and sporadic Parkinson's disease as well as impairment of adult neurogenesis in mice.
|
23075850 |
2012 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
(G2019S) mutation of leucine-rich repeat kinase 2 (LRRK2) is the most common genetic cause of both familial and sporadic Parkinson's disease (PD) cases.
|
22539006 |
2012 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The missense mutation G2019S is the most common LRRK2 mutation and has been identified in both familial and sporadic PD cases.
|
23126385 |
2012 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The LRRK2 G2019S mutation is the most frequent known cause of familial and sporadic Parkinson's disease.
|
19945904 |
2010 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G2019S mutation has been implicated as an important determinant of Parkinson's disease (PD) in both Ashkenazi Jewish and North African Arab populations with carrier frequency of 29.7% among familial and 6% in sporadic Ashkenazi Jewish PD cases.
|
19756366 |
2009 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
LRRK2, however, is unique among the PD-causing genes, because a missense mutation, G2019S, is a frequent determinant of not only familial but also sporadic PD.
|
19025767 |
2009 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Owing to the geographic and historic vicinity of Greece with areas of high prevalence of LRRK2 mutations we studied the frequency of the G2019S mutation in a well characterized cohort of familial and sporadic Parkinson's disease patients of Greek origin from mainland Greece.
|
18617409 |
2008 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G2019S leucine-rich repeat kinase 2 gene (LRRK2) mutation has been identified in a significant proportion of familial and sporadic cases of Parkinson's disease (PD).
|
17210620 |
2007 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently, a mutation in the LRRK2 gene, G2019S, was associated with 3-41% and 1-2% of familial and sporadic PD, respectively suggesting a pivotal role of LRRK2 in PD.
|
17880562 |
2007 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Currently, the Gly2019Ser and Gly2385Arg variants represent the most relevant PD-causing mutation and risk allele, respectively, linking the etiology of the familial and the sporadic forms of this disease.
|
17440812 |
2007 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations in the LRRK2 gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson's disease (PD) with reduced penetrance.
|
17596714 |
2007 |