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Overview of included studies for DYT/PARK-TH:
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
c. 1493A>G
c.-2188_103-194del
c.-70G>A
c.-71C>T
c.1004C>T
c.1010G>A
c.1045T>C
c.1070+1G>T
c.1071-1_1112delGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC
c.1076G>T
c.1083C>A
c.1083C>G
c.1125C>G
c.1127C>T
c.1141-1G>A
c.1145T>C
c.1154C>T
c.1169C>T
c.1181T>C
c.1196C>T
c.1197+25_1397del
c.1197+5G>C
c.1198-24T>A
c.1216G>C
c.1222G>C
c.1240G>A
c.1282G>A
c.1321C>T
c.1322G>C
c.1399A>G
c.1428G>T
c.1451G>A
c.1451G>T
c.1471G>C
c.1475 C>G
c.1481C>T
c.1493A>G
c.1529T>A
c.291delC
c.296delT
c.385C>T
c.457C > T
c.457C>T
c.457C>T,
c.505C>T
c.581-1G>A
c.668C>T
c.694C>T
c.698G > A
c.698G>A
c.707T>C
c.728A>C
c.734G>T
c.736C>T
c.737+8_737+9delGCinsTT
c.738-2A>G
c.738-34G>C
c.739G > A
c.739G>A
c.746C>T
c.752C>T
c.767C>T
c.772G>C
c.817C>T
c.826A>C
c.836G>T
c.880G>C
c.887G>A
c.901C>G
c.926T>C
c.938G>T
c.941C>T
c.943G>A
c.956G>C
c.982C>T
c.983G>A
c1039C>T
Country
Belgium
China
Czech Republic
France
Greece
Guatemala
India
Italy
Japan
Lebanon
Myanmar
Netherlands
Romania
Spain
Taiwan
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Bijarnia-Mahay, 2020
Case report/Case series
1
n.a.
0%
0
c.-2188_103-194del
+
p.Thr399Met
: comp. het.
Chen, 2020
Case report/Case series
22
A
64%
0(+/-0)
p.Arg129*
+
p.Arg233His
: comp. het.
p.Arg153*
+
p.Arg245Met
: comp. het.
p.Gly247Ser
+
p.Ser349Pro
: comp. het.
p.Arg233His
: hom
c.1070+1G>T
: comp. het.
p.Gly315Ser
: comp. het.
c.1071-1_1112delGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC
+
p.Thr256Ile
: comp. het.
c.-71C>T
: comp. het.
p.Asp491His
: comp. het.
p.His347Tyr
+
c.738-2A>G
: comp. het.
p.Thr494Met
: comp. het.
p.His361Gln
+
p.Gly414Arg
: comp. het.
p.Gln232*
: comp. het.
p.Pro223Leu
: comp. het.
c.737+8_737+9delGCinsTT
: comp. het.
Show more (+12)
Bally, 2020
Case report/Case series
1
n.a.
100%
38
p.Leu99Argfs*15
+
p.Ser390Leu
: comp. het.
Hou, 2019
Case report/Case series
3
A
67%
0(+/-0)
p.Arg484Leu
+
p.Arg233His
: comp. het.
c.581-1G>A
: comp. het.
p.Arg129*
+
p.Glu258Gln
: comp. het.
Couto, 2019
Case report/Case series
1
n.a.
0%
3
p.Leu273Phe
: hom
Feng, 2018
Case report/Case series
1
A
100%
0
p.Arg153*
+
p.Arg233His
: comp. het.
Ma, 2018
Mutational screen
1
A
0%
25
p.Pro249Leu
: hom
Yang, 2018
Case report/Case series
2
A
0%
1
p.Arg153*
+
p.Gly247Ser
: comp. het.
p.Arg233His
: hom
Kuwabara, 2018
Case report/Case series
1
A
0%
0
p.Arg233His
+
c.1141-1G>A
: comp. het.
Katus, 2017
Case report/Case series
1
A
100%
n.a.
p.Thr494Met
: hom
1
2
3
4
5
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