Tuschl, 2012: Overview of all reported DYT/PARK-SLC30A10 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
I
|
PAK
|
3
|
16
|
Yes
|
Hypermanganesemia
T1 hyperintensities on MRI Dystonia, limb Walking difficulty Polycythemia Dystonia (any or unspecified) Show more (+3) |
Dystonia, limb
Walking difficulty |
|
No
|
♂
|
I
|
PAK
|
5
|
11
|
Yes
|
Polycythemia
Walking difficulty Dystonia, limb T1 hyperintensities on MRI Dystonia (any or unspecified) Hypermanganesemia Show more (+3) |
Walking difficulty
Dystonia, limb |
|
No
|
♀
|
B
|
YEM
|
2
|
8
|
Yes
|
Hypermanganesemia
Dystonia, limb T1 hyperintensities on MRI Polycythemia Dystonia (any or unspecified) Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
O
|
BRA
|
3
|
24
|
Yes
|
Polycythemia
T1 hyperintensities on MRI Hypermanganesemia Walking difficulty Dystonia (any or unspecified) Dystonia, limb Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
A
|
PHL
|
11
|
12
|
n.a.
|
Polycythemia
Dystonia (any or unspecified) Dystonia, limb Hypermanganesemia T1 hyperintensities on MRI Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
No
|
♀
|
B
|
YEM
|
2
|
4
|
Yes
|
Dystonia, limb
Hypermanganesemia Polycythemia Walking difficulty Dystonia (any or unspecified) T1 hyperintensities on MRI Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
C
|
CAN
|
4
|
12
|
n.a.
|
Dystonia, limb
Ferritin disadvantage Dystonia (any or unspecified) Hypermanganesemia Walking difficulty Polycythemia T1 hyperintensities on MRI Show more (+4) |
Dystonia, limb
Walking difficulty |
|
No
|
♂
|
I
|
PAK
|
5
|
9
|
Yes
|
Polycythemia
Hypermanganesemia Dystonia (any or unspecified) Dystonia, limb T1 hyperintensities on MRI Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
I
|
IND
|
5
|
7
|
n.a.
|
Dystonia, limb
Hypermanganesemia Polycythemia Walking difficulty T1 hyperintensities on MRI Dystonia (any or unspecified) Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
B
|
YEM
|
2
|
12
|
Yes
|
Dystonia, limb
Walking difficulty Dystonia (any or unspecified) Polycythemia Hypermanganesemia T1 hyperintensities on MRI Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
I
|
PAK
|
3
|
18
|
Yes
|
Dystonia (any or unspecified)
Dystonia, limb Walking difficulty Hypermanganesemia T1 hyperintensities on MRI Polycythemia Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
B
|
ARE
|
2
|
21
|
Yes
|
Walking difficulty
Dystonia (any or unspecified) Polycythemia Dystonia, foot Dystonia, generalized Dystonia, leg Dystonic posturing Dystonia, limb Microcephaly Rigidity T1 hyperintensities on MRI Hypermanganesemia Dystonia, hand Show more (+10) |
Dystonia, generalized
Rigidity |
|
Yes
|
♂
|
C
|
USA
|
14
|
37
|
n.a.
|
Delayed speech and language development
Hypermanganesemia T1 hyperintensities on MRI Hyperreflexia Spastic paraparesis Polycythemia Ferritin disadvantage Iron disadvantage Spasticity Show more (+6) |
Spastic paraparesis
Spasticity |