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, foot
Dysarthria
T1 hyperintensities on MRI
Dystonia, limb
Hypermanganesemia
Walking difficulty
Dystonia (any or unspecified)
Polycythemia
Rigidity
Show more (+6)
Dystonia, limb
Rigidity
p.Gln154*: hom
Yes
I
IND
3
4
Yes
Walking difficulty
Dystonia (any or unspecified)
T1 hyperintensities on MRI
Dystonia, limb
Dystonia, foot
Polycythemia
Muscular hypotonia
Hypermanganesemia
Show more (+5)
Dystonia, limb
No
I
IND
3
3
Yes
Dystonia, foot
Walking difficulty
Developmental regression
Dystonia, limb
Muscular hypotonia
Dysarthria
Motor delay
Dystonia (any or unspecified)
Polycythemia
T1 hyperintensities on MRI
Hypermanganesemia
Show more (+8)
Dystonia, limb
Yes
I
IND
3
15
No
Dystonia, leg
Diurnal fluctuations
Dystonia, generalized
Dystonia, arm
Dystonia, limb
Dystonia, foot
Dystonic posturing
Dystonia, hand
Sleep benefit
Hypermanganesemia
T1 hyperintensities on MRI
Polycythemia
Dysarthria
Dystonia (any or unspecified)
Show more (+11)
Dystonia, generalized
Dystonia, limb
No
I
IND
1
5
Yes
Dystonia, limb
Dystonia, foot
Walking difficulty
Dystonia (any or unspecified)
Hypermanganesemia
T1 hyperintensities on MRI
Muscular hypotonia
Polycythemia
Show more (+5)
Dystonia, limb