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