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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
Fasano, 2008
Sib pair study
1
C
100%
48
p.Tyr420*
: hom
Haemers, 2004
Case report/Case series
1
C
0%
57
c.146+1G>A
+
p.Gly868Glufs*26
: comp. het.
Bosio, 2002
Case report/Case series
1
C
0%
62
p.Asp992Glufs*11
+
p.Gln165Glu
: comp. het.
Kohno, 2000
Case report/Case series
1
A
0%
63
p.Asp690Thrfs*20
: hom
Yazaki, 1998
Case report/Case series
1
A
0%
49
c.1209-2A>G
: hom
Miyajima, 1997
Case report/Case series
1
n.a.
0%
51
p.Asp430Thrfs*36
: hom
Kawanami, 1996
Case report/Case series
1
A
100%
n.a.
p.Trp877*
: hom
Takahashi, 1996
Case report/Case series
1
n.a.
0%
45
p.Trp877*
: hom
Morita, 1995
Family study
3
A
67%
47(+/-6)
c.3019-1G>A
: hom
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