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