Tuschl, 2012: Overview of all reported DYT/PARK-SLC30A10 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
I
PAK
3
16
Yes
Dystonia (any or unspecified)
Dystonia, limb
Walking difficulty
T1 hyperintensities on MRI
Hypermanganesemia
Polycythemia
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Dystonia, limb
Walking difficulty
No
♂
I
PAK
5
11
Yes
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Polycythemia
Walking difficulty
Dystonia, limb
Hypermanganesemia
Show more (+3)
Walking difficulty
Dystonia, limb
No
♀
B
YEM
2
8
Yes
Dystonia (any or unspecified)
Dystonia, limb
Polycythemia
Walking difficulty
Hypermanganesemia
T1 hyperintensities on MRI
Show more (+3)
Dystonia, limb
Walking difficulty
p.Leu89Pro: hom
Yes
♀
O
BRA
3
24
Yes
Polycythemia
Hypermanganesemia
Walking difficulty
Dystonia, limb
Dystonia (any or unspecified)
T1 hyperintensities on MRI
Show more (+3)
Walking difficulty
Dystonia, limb
p.Gln308*: hom
Yes
♀
A
PHL
11
12
n.a.
Dystonia (any or unspecified)
Dystonia, limb
Hypermanganesemia
T1 hyperintensities on MRI
Polycythemia
Walking difficulty
Show more (+3)
Dystonia, limb
Walking difficulty
No
♀
B
YEM
2
4
Yes
T1 hyperintensities on MRI
Polycythemia
Dystonia, limb
Walking difficulty
Hypermanganesemia
Dystonia (any or unspecified)
Show more (+3)
Dystonia, limb
Walking difficulty
p.Leu89Pro: hom
Yes
♀
C
CAN
4
12
n.a.
T1 hyperintensities on MRI
Dystonia, limb
Walking difficulty
Ferritin disadvantage
Hypermanganesemia
Dystonia (any or unspecified)
Polycythemia
Show more (+4)
Dystonia, limb
Walking difficulty
No
♂
I
PAK
5
9
Yes
Walking difficulty
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Polycythemia
Dystonia, limb
Hypermanganesemia
Show more (+3)
Walking difficulty
Dystonia, limb
Yes
♀
I
IND
5
7
n.a.
T1 hyperintensities on MRI
Hypermanganesemia
Walking difficulty
Dystonia (any or unspecified)
Dystonia, limb
Polycythemia
Show more (+3)
Walking difficulty
Dystonia, limb
Yes
♀
B
YEM
2
12
Yes
Polycythemia
Hypermanganesemia
T1 hyperintensities on MRI
Walking difficulty
Dystonia (any or unspecified)
Dystonia, limb
Show more (+3)
Walking difficulty
Dystonia, limb
p.Leu89Pro: hom