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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
Vissers, 2023
Mutational screen
6
n.a.
100%
n.a.
Gly2019Ser
: het
Arg1441Cys
: het
Martínez, 2023
Associated study
24
n.a.
42%
n.a.
Gly2019Ser
: het
Borsche, 2023
Case report/Case series
2
n.a.
100%
67
Phe1700Leu
: het
Mutez, 2023
Mutational screen
25
n.a.
n.a.
n.a.
Gly2019Ser
: het
Do, 2023
Mutational screen
2
n.a.
50%
37(+/-0)
Lys53Arg
: het
Lys616Arg
: het
Flinkman, 2023
Case report/Case series
3
n.a.
67%
44(+/-9)
Gly2019Ser
: het
Weill, 2023
Associated study
11
n.a.
n.a.
n.a.
Gly2019Ser
: het
Gly2019Ser
: comp. het.
Arg1441Cys
: het
Li, 2023
Case report/Case series
1
A
100%
n.a.
Leu1712Phe
: het
Luxenburger, 2022
Case report/Case series
3
n.a.
n.a.
n.a.
Gly2019Ser
: het
Turski, 2022
Family study
3
n.a.
67%
52(+/-3)
Asn1437His
: het
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