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
Yes
I
PAK
3
18
Yes
Walking difficulty
Dystonia (any or unspecified)
Hypermanganesemia
Dystonia, limb
Polycythemia
T1 hyperintensities on MRI
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Walking difficulty
Dystonia, limb
Yes
B
ARE
2
21
Yes
Dystonia, hand
Hypermanganesemia
Dystonia, foot
Polycythemia
Microcephaly
Dystonia, generalized
Dystonia, limb
Rigidity
Dystonia (any or unspecified)
Walking difficulty
Dystonia, leg
Dystonic posturing
T1 hyperintensities on MRI
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Dystonia, generalized
Rigidity
Yes
C
USA
14
37
n.a.
Delayed speech and language development
Iron disadvantage
Spastic paraparesis
Spasticity
Hyperreflexia
Ferritin disadvantage
Hypermanganesemia
Polycythemia
T1 hyperintensities on MRI
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Spastic paraparesis
Spasticity