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Overview of included studies for PARK-LRRK2:
Click here for summary of patients' characteristics
Click here for summary of in vitro effect of mutations on LRRK2 kinase pathway activity
Click here for summary of genetic findings
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.1847A>G
c.2264C>T
c.2769G>C
c.4111A>G
c.4309A>C
c.4321C>A
c.4321C>G
c.4321C>T
c.4322G>A
c.5096A>G
c.5606T>C
c.5971A>G
c.6035T>C
c.6055G>A
c.6059T>C
c.632C>T
c.6523G>C
c.7067C>T
c.7153G>A
c.7315C>A
Country
Algeria
Argentina
Australia
Belgium
Brazil
Canada
Chile
China
Colombia
Denmark
Egypt
France
Germany
Greece
India
Iran
Ireland
Israel
Italy
Japan
Lithuania
Mexico
Morocco
Norway
Peru
Poland
Portugal
Puerto Rico
Russia
Serbia
Singapore
South Africa
South Korea
Spain
Sweden
Taiwan
Tunisia
Turkey
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Sierra, 2017
Case report/Case series
3
H
0%
n.a.
Gly2019Ser
: het
Cornejo-Olivas, 2017
Mutational screen
2
H
100%
37(+/-11)
Arg1441Gly
: het
Arg1441Cys
: het
Peng, 2017
Mutational screen
1
A
0%
44
Arg1441Cys
: het
Sanchez-Contreras, 2017
Mutational screen
1
JO
0%
73
Gly2019Ser
: het
Lubbe, 2016
Other/Mixed
77
n.a.
57%
62(+/-12)
Gly2019Ser
: het
Ile2020Thr
: het
Arg1441His
: het
Tyr1699Cys
: het
Arg1441Cys
: het
Show more (+2)
Abreu, 2016
Mutational screen
6
H
33%
47(+/-12)
Gly2019Ser
: het
Fan, 2016
Mutational screen
4
A
0%
55(+/-7)
Ile2012Thr
: het
Heckman, 2016
Other/Mixed
1
C
100%
n.a.
Gly2019Ser
: het
Mata, 2016
Mutational screen
6
C
83%
54(+/-14)
Arg1441Ser
: het
Wile, 2016
Case report/Case series
1
n.a.
0%
61
Gly2019Ser
: het
1
2
3
4
5
6
7
8
9
10
…
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© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
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