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