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
Polycythemia
Dystonia (any or unspecified)
Walking difficulty
Dystonia, limb
Hypermanganesemia
T1 hyperintensities on MRI
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Walking difficulty
Dystonia, limb
No
I
PAK
5
11
Yes
Dystonia, limb
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Hypermanganesemia
Polycythemia
Walking difficulty
Show more (+3)
Dystonia, limb
Walking difficulty
No
B
YEM
2
8
Yes
Dystonia, limb
Hypermanganesemia
Polycythemia
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Walking difficulty
Show more (+3)
Dystonia, limb
Walking difficulty
p.Leu89Pro: hom
Yes
O
BRA
3
24
Yes
Walking difficulty
Dystonia, limb
Hypermanganesemia
Dystonia (any or unspecified)
T1 hyperintensities on MRI
Polycythemia
Show more (+3)
Walking difficulty
Dystonia, limb
p.Gln308*: hom
Yes
A
PHL
11
12
n.a.
Polycythemia
T1 hyperintensities on MRI
Walking difficulty
Dystonia (any or unspecified)
Dystonia, limb
Hypermanganesemia
Show more (+3)
Walking difficulty
Dystonia, limb
No
B
YEM
2
4
Yes
Dystonia (any or unspecified)
Hypermanganesemia
T1 hyperintensities on MRI
Walking difficulty
Dystonia, limb
Polycythemia
Show more (+3)
Walking difficulty
Dystonia, limb
p.Leu89Pro: hom
Yes
C
CAN
4
12
n.a.
Hypermanganesemia
Dystonia (any or unspecified)
Walking difficulty
Polycythemia
Ferritin disadvantage
T1 hyperintensities on MRI
Dystonia, limb
Show more (+4)
Walking difficulty
Dystonia, limb
No
I
PAK
5
9
Yes
Dystonia, limb
Walking difficulty
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Polycythemia
Hypermanganesemia
Show more (+3)
Dystonia, limb
Walking difficulty
Yes
I
IND
5
7
n.a.
Dystonia (any or unspecified)
Walking difficulty
Polycythemia
Hypermanganesemia
T1 hyperintensities on MRI
Dystonia, limb
Show more (+3)
Walking difficulty
Dystonia, limb
Yes
B
YEM
2
12
Yes
Polycythemia
Dystonia, limb
Walking difficulty
Dystonia (any or unspecified)
T1 hyperintensities on MRI
Hypermanganesemia
Show more (+3)
Dystonia, limb
Walking difficulty
p.Leu89Pro: hom
Yes
I
PAK
3
18
Yes
Hypermanganesemia
T1 hyperintensities on MRI
Polycythemia
Dystonia (any or unspecified)
Dystonia, limb
Walking difficulty
Show more (+3)
Dystonia, limb
Walking difficulty
Yes
B
ARE
2
21
Yes
Dystonia, leg
Hypermanganesemia
Dystonia (any or unspecified)
Walking difficulty
Dystonic posturing
Rigidity
Polycythemia
Dystonia, generalized
Dystonia, limb
Dystonia, foot
Microcephaly
Dystonia, hand
T1 hyperintensities on MRI
Show more (+10)
Rigidity
Dystonia, generalized
Yes
C
USA
14
37
n.a.
Spasticity
Iron disadvantage
Polycythemia
Hyperreflexia
Ferritin disadvantage
Delayed speech and language development
T1 hyperintensities on MRI
Hypermanganesemia
Spastic paraparesis
Show more (+6)
Spasticity
Spastic paraparesis