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Overview of included studies for DYT/PARK-QDPR:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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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.176C>A
c.322T>G
c.353C>T
c.41T>C
c.449A>G
c.466G>A
c.488G>T
c.508G>A
c.515C>T
c.523_524delGCinsAG
c.52G>T
c.609dupA
c.643T>C
c.661C>T
c.68G>A
Country
China
Ireland
Lebanon
Portugal
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Zouvelou, 2019
Other/Mixed
1
n.a.
n.a.
n.a.
p.Pro204Thrfs*7
+
p.Ala156Thr
: comp. het.
Gowda, 2018
Case report/Case series
1
n.a.
0%
n.a.
p.Ser163lle
: hom
Takahashi, 2017
Case report/Case series
1
n.a.
100%
n.a.
p.Gly18Cys
+
p.Ser59*
: comp. het.
Ventzke, 2015
Family study
2
n.a.
50%
0(+/-0)
p.Ser118Phe
: hom
Lu, 2014
Case report/Case series
2
A
50%
1(+/-1)
p.Arg221*
+
p.Pro172Leu
: comp. het.
p.Gly170Ser
+
p.Ala175Arg
: comp. het.
Porta, 2012
Case report/Case series
2
n.a.
n.a.
0(+/-0)
p.Leu14Pro
: hom
p.Gly23Asp
+
p.Tyr150Cys
: comp. het.
Karam, 2011
Case report/Case series
1
n.a.
0%
1
p.Trp215Arg
: hom
Sedel, 2006
Case report/Case series
1
n.a.
100%
9
p.Trp108Gly
: hom
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