Quadri, 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
C
NLD
14
65
Yes
Dystonia, generalized
Dystonia (any or unspecified)
Hypermanganesemia
Polycythemia
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Dystonia (any or unspecified)
Yes
C
ITA
57
60
Yes
Gait difficulties
Postural instability
Polycythemia
Hypomimia
Rigidity
T1 hyperintensities on MRI
Bradykinesia
Hypermanganesemia
Parkinsonism
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Gait difficulties
Bradykinesia
No
C
ITA
47
59
Yes
Polycythemia
Postural instability
Dysarthria
Parkinsonism
Gait difficulties
Hypomimia
Ferritin disadvantage
T1 hyperintensities on MRI
Hypermanganesemia
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Postural instability
Gait difficulties
Hypomimia
No
C
NLD
2
63
Yes
T1 hyperintensities on MRI
Dystonia (any or unspecified)
Dystonia, generalized
Polycythemia
Hypermanganesemia
Cognitive impairment
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Dystonia (any or unspecified)