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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 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
pathogenic variant
likely pathogenic variant
variant of uncertain significance
c.1004A>G
c.1132C>T
c.1163T>C
c.1240G>A
c.1256C>T
c.1310T>C
c.1312T>C
c.1375G>T
c.1382G>T
c.1421A>G
c.158A>G
c.1630A>G
c.1735A>G
c.1829T>C
c.1847A>G
c.1898C>T
c.1982C>T
c.2025A>G
c.2165G>A
c.2170A>G
c.2200G>A
c.2216A>G
c.2291G>A
c.2299C>T
c.2300G>A
c.2314C>T
c.2327C>T
c.2352C>A
c.2356A>T
c.2375G>A
c.2378G>T
c.2480C>T
c.2500+5delGTAA
c.2531T>A
c.2653A>T
c.2697A>C
c.2769G>C
c.2789A>G
c.2821G>T
c.2831A>T
c.2843G>A
c.2873C>T
c.28G>A
c.2915A>G
c.2917A>G
c.2918G>A
c.2942G>A
c.299T>C
c.3020G>C
c.3056A>G
c.3200G>A
c.3287C>G
c.3342A>G
c.3364A>G
c.3382C>A
c.3451G>A
c.3455G>T
c.3477T>G
c.3494T>C
c.3542C>A
c.3574A>G
c.3576T>G
c.3643G>A
c.3647A>G
c.3683G>C
c.3812C>T
c.3960G>T
c.3974G>A
c.4001G>A
c.4017T>G
c.4018G>A
c.4057C>A
c.4106T>C
c.4117G>A
c.4165G>A
c.4192C>T
c.4194T>G
c.4205A>G
c.4215T>A
c.4280A>G
c.4306T>C
c.4309A>C
c.4309A>G
c.4310A>G
c.4317+1G>C
c.4318G>C
c.4321C>A
c.4321C>G
c.4321C>T
c.4322G>A
c.4324G>C
c.4334C>G
c.4337C>T
c.4339G>A
c.4348G>A
c.4351G>A
c.4391C>G
c.4402A>G
c.4439C>T
c.4441G>A
c.4448G>A
c.4471_4473delACC
c.4474G>A
c.4501C>T
c.4536+3A>G
c.4559G>C
c.458T>G
c.4621G>A
c.4642A>G
c.4654C>T
c.4765G>T
c.4827+6T>A
c.4827+78T>C
c.4827+79T>C
c.4838T>C
c.4859A>G
c.4862A>G
c.4863C>A
c.4864C>A
c.4865C>T
c.4867A>G
c.4876A>G
c.4879T>A
c.4880C>T
c.4882C>T
c.4934A>C
c.4943A>G
c.4946A>C
c.5031G>C
c.5096A>G
c.5098T>C
c.5136A>T
c.5174G>A
c.518A>G
c.5255C>G
c.5266G>T
c.5267A>G
c.5273A>C
c.5281A>C
c.5318-29G>T
c.5321G>A
c.5385G>C
c.5385G>T
c.5417C>T
c.5467C>A
c.5605A>G
c.5606T>C
c.5620G>T
c.5659G>A
c.5672G>C
c.5740C>A
c.574T>G
c.577G>A
c.5822G>A
c.5882A>G
c.5949-28A>T
c.5971A>G
c.6016T>C
c.6028G>A
c.6035T>C
c.6055G>A
c.6058A>C
c.6059T>C
c.6059T>G
c.6091A>T
c.6187_6191delCTCTA
c.632C>T
c.6398A>G
c.6415T>A
c.6503G>T
c.6523G>C
c.6566A>G
c.6707A>G
c.6752A>C
c.6880G>A
c.689A>G
c.6922A>G
c.6929C>T
c.6938A>G
c.6967A>T
c.7006A>G
c.7049G>T
c.7067C>T
c.713A>T
c.7153G>A
c.7168G>A
c.7169T>C
c.7224G>A
c.7267A>T
c.7300A>G
c.7315C>A
c.7388T>C
c.7390+178A>G
c.7481C>T
c.749A>G
c.7570A>G
c.763G>A
c.774A>T
c.856C>G
c.872T>C
c.917C>T
c.922T>A
c.935C>T
c.958A>T
Country
Algeria
Argentina
Australia
Austria
Belarus
Belgium
Brazil
Canada
Chile
China
Colombia
Costa Rica
Cuba
Czech Republic
Denmark
Ecuador
Egypt
Estonia
Faroe Islands
Finland
France
Germany
Greece
Guatemala
Hungary
India
Iran
Ireland
Israel
Italy
Japan
Kazakhstan
Libya
Lithuania
Malaysia
Malta
Mexico
Mixed/Other
Morocco
Netherlands
Norway
Peru
Poland
Portugal
Puerto Rico
Russia
Serbia
Singapore
Slovakia
South Africa
South Korea
Spain
Sweden
Taiwan
Tunisia
Turkey
United Kingdom
United States
Uruguay
Zambia
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Rus, 2022
Associated study
14
n.a.
50%
n.a.
Gly2019Ser
: het
Hill, 2022
Associated study
1
n.a.
n.a.
n.a.
Ala419Val
: het
Coku, 2022
Family study
5
n.a.
40%
55(+/-20)
Ala1440Pro
: het
His230Arg
: het
Hua, 2022
Mutational screen
2
n.a.
100%
39(+/-13)
Gly2019Ser
: het
Val1447Met
: het
Lee, 2022
Mutational screen
47
n.a.
n.a.
n.a.
Gly2019Ser
: het
Acosta-Uribe, 2022
Associated study
1
C
n.a.
n.a.
Ser1445Cys
: het
Ali, 2022
Case report/Case series
1
n.a.
100%
49
Arg1441Cys
: het
Palermo, 2022
Associated study
1
n.a.
n.a.
n.a.
Gly2019Ser
: het
Macías-García, 2022
Associated study
35
n.a.
n.a.
n.a.
Gly2019Ser
: het
Arg1441Gly
: het
Sambin, 2022
Family study
2
n.a.
100%
53(+/-5)
Arg1441His
: het
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