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
|
T1 hyperintensities on MRI
Dystonia, limb Polycythemia Dystonia (any or unspecified) Hypermanganesemia Walking difficulty Show more (+3) |
Dystonia, limb
Walking difficulty |
|
No
|
♂
|
I
|
PAK
|
5
|
11
|
Yes
|
Polycythemia
T1 hyperintensities on MRI Walking difficulty Hypermanganesemia Dystonia, limb Dystonia (any or unspecified) Show more (+3) |
Walking difficulty
Dystonia, limb |
|
No
|
♀
|
B
|
YEM
|
2
|
8
|
Yes
|
T1 hyperintensities on MRI
Dystonia, limb Polycythemia Walking difficulty Hypermanganesemia Dystonia (any or unspecified) Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
O
|
BRA
|
3
|
24
|
Yes
|
Hypermanganesemia
T1 hyperintensities on MRI Polycythemia Dystonia, limb Walking difficulty Dystonia (any or unspecified) Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
A
|
PHL
|
11
|
12
|
n.a.
|
Walking difficulty
T1 hyperintensities on MRI Polycythemia Dystonia, limb Hypermanganesemia Dystonia (any or unspecified) Show more (+3) |
Walking difficulty
Dystonia, limb |
|
No
|
♀
|
B
|
YEM
|
2
|
4
|
Yes
|
Walking difficulty
Dystonia (any or unspecified) Polycythemia T1 hyperintensities on MRI Dystonia, limb Hypermanganesemia Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
C
|
CAN
|
4
|
12
|
n.a.
|
T1 hyperintensities on MRI
Polycythemia Dystonia, limb Ferritin disadvantage Walking difficulty Hypermanganesemia Dystonia (any or unspecified) Show more (+4) |
Dystonia, limb
Walking difficulty |
|
No
|
♂
|
I
|
PAK
|
5
|
9
|
Yes
|
Polycythemia
Hypermanganesemia Walking difficulty Dystonia, limb T1 hyperintensities on MRI Dystonia (any or unspecified) Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
I
|
IND
|
5
|
7
|
n.a.
|
T1 hyperintensities on MRI
Hypermanganesemia Dystonia, limb Dystonia (any or unspecified) Walking difficulty Polycythemia Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
B
|
YEM
|
2
|
12
|
Yes
|
Polycythemia
Dystonia (any or unspecified) Dystonia, limb T1 hyperintensities on MRI Walking difficulty Hypermanganesemia Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
I
|
PAK
|
3
|
18
|
Yes
|
Dystonia (any or unspecified)
Walking difficulty Dystonia, limb Polycythemia T1 hyperintensities on MRI Hypermanganesemia Show more (+3) |
Walking difficulty
Dystonia, limb |
|
Yes
|
♀
|
B
|
ARE
|
2
|
21
|
Yes
|
Walking difficulty
Dystonia, generalized Hypermanganesemia Dystonia, hand Dystonic posturing Microcephaly T1 hyperintensities on MRI Rigidity Polycythemia Dystonia (any or unspecified) Dystonia, limb Dystonia, foot Dystonia, leg Show more (+10) |
Dystonia, generalized
Rigidity |
|
Yes
|
♂
|
C
|
USA
|
14
|
37
|
n.a.
|
T1 hyperintensities on MRI
Ferritin disadvantage Spastic paraparesis Delayed speech and language development Hyperreflexia Iron disadvantage Polycythemia Hypermanganesemia Spasticity Show more (+6) |
Spastic paraparesis
Spasticity |