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Overview of included studies for DYT/PARK-PTS:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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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.104A>G
c.139A>G
c.147T>G
c.155A>G
c.166G>A
c.169_171delGTG
c.187-37insG
c.200C>T
c.238A<G
c.259C>T
c.25C>T
c.260C>T
c.272A>G
c.286G>A
c.317C>T
c.317c>T
c.331G>T
c.340A>G
c.342C>G
c.367C>T
c.379C>T
c.385A>G
c.393del
c.393delA
c.3G>A
c.407A>G
c.407A>T
c.45_46insGGC
c.53T>C
c.73C>G
c.73C>T
c.82_83insA
c.84-3C>G
c.84_95delTAAATTTCTAAG
Country
China
Egypt
Italy
Mexico
Oman
Saudi Arabia
Serbia
Thailand
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Chen, 2020
Case report/Case series
2
n.a.
50%
7(+/-6)
p.Val56Met
+
p.Asp96Asn
: comp. het.
p.Lys91Arg
: comp. het.
Almannai, 2019
Other/Mixed
9
B
22%
0(+/-0)
p.Val57del
: hom
p.Ile114Met
: hom
p.Asn52Ser
: hom
p.Pro123Ser
: hom
p.Thr67Met
: hom
p.Met80Val
: hom
Show more (+3)
Fernández-Lainez, 2018
Case report/Case series
5
H
n.a.
0(+/-0)
p.Ala111Ser
+
p.Arg25*
: comp. het.
p.Ala111Ser
: hom
p.Val132Tyrfs*19
: hom
Chaiyasap, 2017
Mutational screen
1
A
100%
n.a.
p.Asn52Ser
+
p.Thr67Met
: comp. het.
Stojiljkovic, 2015
Case report/Case series
1
C
100%
3
p.Asp136Val
: hom
Unknown, 2011
Other/Mixed
10
n.a.
n.a.
n.a.
p.Arg25Gly
+
p.Pro87Ser
: comp. het.
p.Val56Met
+
p.Thr106Met
: comp. het.
p.Asp96Asn
: comp. het.
p.Asn52Ser
: hom
p.Asn52Ser
: comp. het.
Show more (+2)
Leuzzi, 2010
Case report/Case series
10
n.a.
70%
0(+/-0)
p.Ile18Thr
+
p.Asn47Asp
: comp. het.
c.187-37insG
: hom
p.Thr67Met
+
p.Lys129Glu
: comp. het.
p.Ser28Lysfs*2
+
c.84-3C>G
: comp. het.
p.Pro87Leu
: hom
p.Arg9Cys
+
p.Pro87Leu
: comp. het.
p.Thr106Met
+
p.Val132Tyrfs*19
: comp. het.
p.Asn52Ser
: hom
Show more (+5)
Vatanavicharn, 2009
Case report/Case series
1
A
0%
0
p.His49Gln
+
p.Pro87Ser
: comp. het.
Porta, 2009
Case report/Case series
3
n.a.
100%
0(+/-0)
p.Pro87Leu
: hom
p.Asn52Ser
: hom
Jäggi, 2008
Other/Mixed
3
n.a.
67%
0(+/-0)
p.Thr67Met
+
p.Asp136Val
: comp. het.
p.Glu35Gly
: comp. het.
p.Thr67Met
: hom
1
2
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