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Overview of included studies for DYT/PARK-CP:
Click here for summary of patients' characteristics
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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.(2077+1_2078-1)_(2285+1_2286-1)del
c.1049C>A
c.1209-2A>G
c.1257_1258delTT
c.1282_1286dupTACAC
c.146+1G>A
c.1864+1G>C
c.1948G>A
c.2068delG
c.2554+1G>T
c.2603delG
c.2630G>A
c.2689_2690delCT
c.2975dupA
c.3019-1G>A
c.3107G>A
c.493C>G
c.848G>A
c.848G>C
Country
Belgium
China
Italy
Japan
Netherlands
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Kassubek, 2017
Case report/Case series
1
n.a.
0%
n.a.
p.Ala350Asp
: hom
Vroegindeweij, 2017
Case report/Case series
5
C
80%
48(+/-6)
p.Gly650Arg
: hom
Poli, 2017
Case report/Case series
1
n.a.
100%
n.a.
p.Leu897Aspfs*27
+
p.Trp283*
: comp. het.
Kang, 2016
Case report/Case series
1
n.a.
0%
50
c.1864+1G>C
: n.a.
Bove, 2015
Case report/Case series
1
C
0%
53
p.Tyr420*
: hom
Melgari, 2015
Case report/Case series
1
C
0%
n.a.
c.(2077+1_2078-1)_(2285+1_2286-1)del
: hom
Pan, 2011
Case report/Case series
1
A
0%
46
p.Trp283Ser
: hom
Bethlehem, 2010
Case report/Case series
1
n.a.
0%
n.a.
p.Gly650Arg
: hom
Hida, 2010
Case report/Case series
1
A
0%
51
p.Trp1036*
: hom
Finkenstedt, 2010
Family study
2
n.a.
50%
n.a.
c.2554+1G>T
: hom
1
2
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