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, limb
Polycythemia
Dystonia (any or unspecified)
Hypermanganesemia
T1 hyperintensities on MRI
Walking difficulty
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Dystonia, limb
Walking difficulty
No
I
PAK
5
11
Yes
Dystonia, limb
Polycythemia
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Hypermanganesemia
Walking difficulty
Show more (+3)
Dystonia, limb
Walking difficulty
No
B
YEM
2
8
Yes
Dystonia (any or unspecified)
Walking difficulty
Hypermanganesemia
Dystonia, limb
Polycythemia
T1 hyperintensities on MRI
Show more (+3)
Walking difficulty
Dystonia, limb
p.Leu89Pro: hom
Yes
O
BRA
3
24
Yes
Dystonia, limb
Hypermanganesemia
Walking difficulty
Dystonia (any or unspecified)
T1 hyperintensities on MRI
Polycythemia
Show more (+3)
Dystonia, limb
Walking difficulty
p.Gln308*: hom
Yes
A
PHL
11
12
n.a.
Walking difficulty
Dystonia (any or unspecified)
T1 hyperintensities on MRI
Polycythemia
Dystonia, limb
Hypermanganesemia
Show more (+3)
Walking difficulty
Dystonia, limb
No
B
YEM
2
4
Yes
Hypermanganesemia
Dystonia (any or unspecified)
Walking difficulty
Dystonia, limb
Polycythemia
T1 hyperintensities on MRI
Show more (+3)
Walking difficulty
Dystonia, limb
p.Leu89Pro: hom
Yes
C
CAN
4
12
n.a.
Ferritin disadvantage
Dystonia (any or unspecified)
Dystonia, limb
Hypermanganesemia
T1 hyperintensities on MRI
Polycythemia
Walking difficulty
Show more (+4)
Dystonia, limb
Walking difficulty
No
I
PAK
5
9
Yes
Dystonia, limb
Hypermanganesemia
Walking difficulty
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Polycythemia
Show more (+3)
Dystonia, limb
Walking difficulty
Yes
I
IND
5
7
n.a.
Hypermanganesemia
Polycythemia
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Walking difficulty
Dystonia, limb
Show more (+3)
Walking difficulty
Dystonia, limb
Yes
B
YEM
2
12
Yes
Dystonia, limb
Polycythemia
Walking difficulty
Dystonia (any or unspecified)
T1 hyperintensities on MRI
Hypermanganesemia
Show more (+3)
Dystonia, limb
Walking difficulty
p.Leu89Pro: hom