Quadri, 2015: 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
IND
4
5
No
Dystonia, limb
Dystonia, foot
Walking difficulty
Rigidity
Hypermanganesemia
Dystonia (any or unspecified)
Polycythemia
Dysarthria
T1 hyperintensities on MRI
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Dystonia, limb
Rigidity
p.Gln154*: hom
Yes
I
IND
3
4
Yes
Muscular hypotonia
Dystonia (any or unspecified)
Polycythemia
Dystonia, limb
Hypermanganesemia
T1 hyperintensities on MRI
Dystonia, foot
Walking difficulty
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Dystonia, limb
No
I
IND
3
3
Yes
Dysarthria
T1 hyperintensities on MRI
Dystonia, limb
Dystonia (any or unspecified)
Walking difficulty
Hypermanganesemia
Motor delay
Polycythemia
Muscular hypotonia
Developmental regression
Dystonia, foot
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Dystonia, limb
Yes
I
IND
3
15
No
Dystonia, leg
Diurnal fluctuations
Dysarthria
Dystonia, arm
Dystonia, limb
Dystonia, foot
Polycythemia
Hypermanganesemia
Dystonia, generalized
Dystonia, hand
T1 hyperintensities on MRI
Dystonic posturing
Sleep benefit
Dystonia (any or unspecified)
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Dystonia, limb
Dystonia, generalized
No
I
IND
1
5
Yes
Polycythemia
Hypermanganesemia
Dystonia, limb
Muscular hypotonia
Walking difficulty
T1 hyperintensities on MRI
Dystonia, foot
Dystonia (any or unspecified)
Show more (+5)
Dystonia, limb