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Overview of included studies for DYT/PARK-GCH1:
Click here for summary of patients' characteristics
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
-22C>T
c.(343+1_344-1)_(2000_?)del
c.(343+1_344-1)_(453+1_454-1)del
c.(343+1_344-1)_(453+1_454-1)dup
c.(343+1_344-1)_(509+1_510-1)del
c.(453+1_454-1)_(2000_?)del
c.(453+1_454-1)_(509+1_510-1)del
c.(453+1_454-1)_(541+1_542-1)del
c.(453+1_454-1)_(626+1_627-1)del
c.(509+1_510-1)_(2000_?)del
c.(541+1_542-1)_(2000_?)del
c.(541+1_542-1)_(626+1_627-1)del
c.(626+1_627-1)_(2000_?)del
c.(?_-163-1)_(2000_?)del
c.(?_-163-1)_(343+1_344-1)del
c.(?_-163-1)_(509+1_510-1)del
c.(?_-163-1)_(541+1_542-1)del
c.-189-44_-189-62delTGACGCGAGGCGGGGCCG
c.119dupC
c.141_142delGC
c.142C>T
c.159delG
c.166G>T
c.170G>A
c.172-175delCCCC
c.175C>G
c.181G>T
c.193G>T
c.193delG
c.1A>G
c.1A>T
c.206C>T
c.209delA
c.218C>A
c.221C>A
c.224A>C
c.224A>G
c.227C>A
c.228delG
c.229_246delCCATCCTGAGCTCGCTG
c.22_23GC>TA
c.230C>G
c.233delT
c.235_240delCTGAGC
c.241T>C
c.242C>A
c.245T>C
c.248G>C
c.250G>T
c.262C>G
c.263G > T
c.263G>A
c.265C>T
c.267_284delAGGGCTGCTCAAGACGCC
c.269G>T
c.271C>G
c.272T>G
c.281C>A
c.281C>T
c.283C > T
c.284C>G
c.284C>T
c.287G>A
c.292G>A
c.293C>T
c.295G>C
c.2T>C
c.308A>C
c.309G>C
c.309delG
c.312C>A
c.313_315dupTTC
c.317C>T
c.320_329delAGGGCTACCA
c.323G>A
c.328C>G
c.328C>T
c.329dupA
c.339C>G
c.341C>A
c.341C>G
c.343+1G>T
c.343G>A
c.344+5G>C
c.344-2A>G
c.350T>G
c.353delA
c.358G>T
c.3G>C
c.400delG
c.401A>G
c.404T>A
c.404T>C
c.409A>G
c.410T>G
c.410_446delTGTTTTCCATGTGTGAGCATCACTTGGTTCCATTTGT
c.431A>C
c.435G>T
c.440C>A
c.453+1G>A
c.453+1G>C
c.453+3A>T
c.453+6G>T
c.454-2A>G
c.455T>A
c.458A>G
c.461T>G
c.463G>A
c.470T>C
c.488T>G
c.509+1G>A
c.509+2T>C
c.509+2dupT
c.509+5G>A
c.524A>G
c.532_534delAGA
c.536_538delTAC
c.539A>C
c.541+1G>A
c.541+1G>C
c.541G>A
c.544C>G
c.544C>T
c.547G>A
c.54C>A
c.550C>T
c.551G>A
c.554T>G
c.557C>A
c.557C>T
c.562C>T
c.568delG
c.571G>A
c.578T>A
c.592C>T
c.595C> G
c.595C>T
c.5A>G
c.601G>A
c.607G>A
c.608G>A
c.610G>A
c.611T>G
c.612_617delAGTGGT
c.614T> G
c.617T>C
c.618_626+6del
c.61_62delGGinsAACC
c.623C>A
c.625A>C
c.626+1G>A
c.626+1G>C
c.626+1G>T
c.626+2T>G
c.626+2dupT
c.626+3_626+6delAAGT
c.626C>T
c.627-2dupA
c.628delC
c.629A>G
c.630C>G
c.631A>G
c.631_632delAT
c.633G>A
c.635_636delGT
c.646C>T
c.650G>T
c.653dupT
c.656A>C
c.662T>G
c.669C>A
c.670A>G
c.670A>T
c.671A > G
c.671A>G
c.676_677insA
c.679A>G
c.689_690delTG
c.690G>A
c.695G>A
c.695G>T
c.695Gdel
c.703C>G
c.703C>T
c.706G>T
c.706delG
c.721C>T
c.722G>A
c.726_727insTTCCC
c.745delA
c.747G>C
c.751T>C
Country
Australia
Belgium
Brazil
Canada
China
Colombia
Denmark
Estonia
France
Germany
India
Italy
Japan
Pakistan
Poland
Portugal
Serbia
South Africa
South Korea
Spain
Switzerland
Taiwan
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Jarman, 1997
Case report/Case series
2
C
0%
6(+/-1)
: n.a.
p.Lys224*
: het
p.Asp115Asn
: het
Hirano, 1997
Family study
1
A
0%
10
p.Thr186Lys
: het
Hirano, 1996
Family study
1
A
0%
7
p.His144Pro
: het
Furukawa, 1996
Mutational screen
3
n.a.
33%
5(+/-2)
p.Glu65*
: het
c.(343+1_344-1)_(453+1_454-1)del
: het
p.Ser114*
: het
Blau, 1995
Case report/Case series
1
n.a.
100%
0
p.Met211Ile
: hom
Ichinose, 1995
Case report/Case series
2
n.a.
n.a.
0(+/-0)
p.Arg184His
: hom
p.Met211Ile
: hom
Hirano, 1995
Family study
1
A
100%
10
c.453+1G>C
: het
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