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Overview of included studies for DYT/PARK-SPR:
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. 413T>A
c.1A>G
c.304+2_304+13del12
c.304G>T
c.368A>G
c.370T>C
c.381C>G
c.407C>T
c.43delG
c.448 A>G
c.448A>G
c.448_452delAGAAC
c.512G>A
c.517G>T
c.527C>T
c.530G>C
c.596-2A>G
c.655C>T
c.751A>T
Country
France
Greece
India
Italy
Jordan
Kuwait
Poland
Saudi Arabia
Sri Lanka
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Bainbridge, 2011
Family study
2
n.a.
50%
1(+/-0)
p.Lys251*
+
p.Arg150Gly
: comp. het.
Arrabal, 2011
Case report/Case series
4
n.a.
25%
7
p. Lys251*
: hom
p.Arg150Gly
+
p.Gly102Cys
: comp. het.
Leu-Semenescu, 2010
Case report/Case series
1
C
100%
0
p.Arg150Gly
: hom
Wali, 2010
Sib pair study
2
n.a.
50%
0(+/-0)
p.Val138Asp
: hom
Clot, 2009
Mutational screen
1
n.a.
0%
6
c.596-2A>G
: hom
Kusmierska, 2009
Case report/Case series
1
C
0%
0
p.Asn127Lys
: hom
Verbeek, 2008
Sib pair study
1
C
100%
1
p.Lys251*
: hom
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