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
T1 hyperintensities on MRI
Hypermanganesemia
Rigidity
Polycythemia
Walking difficulty
Dysarthria
Dystonia (any or unspecified)
Dystonia, foot
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Dystonia, limb
Rigidity
p.Gln154*: hom
Yes
I
IND
3
4
Yes
Walking difficulty
Dystonia, limb
T1 hyperintensities on MRI
Dystonia, foot
Muscular hypotonia
Dystonia (any or unspecified)
Polycythemia
Hypermanganesemia
Show more (+5)
Dystonia, limb
No
I
IND
3
3
Yes
Dystonia, limb
Hypermanganesemia
T1 hyperintensities on MRI
Dystonia, foot
Dysarthria
Developmental regression
Dystonia (any or unspecified)
Polycythemia
Muscular hypotonia
Walking difficulty
Motor delay
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Dystonia, limb
Yes
I
IND
3
15
No
Dystonic posturing
Polycythemia
Dystonia, leg
Dystonia, foot
Dystonia, limb
Dystonia, generalized
Dystonia, arm
Dystonia (any or unspecified)
Sleep benefit
T1 hyperintensities on MRI
Diurnal fluctuations
Dystonia, hand
Dysarthria
Hypermanganesemia
Show more (+11)
Dystonia, limb
Dystonia, generalized
No
I
IND
1
5
Yes
Muscular hypotonia
Polycythemia
Walking difficulty
Dystonia, limb
Dystonia (any or unspecified)
Hypermanganesemia
Dystonia, foot
T1 hyperintensities on MRI
Show more (+5)
Dystonia, limb