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 |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
I
|
PAK
|
3
|
18
|
Yes
|
Dystonia (any or unspecified)
Hypermanganesemia Dystonia, limb T1 hyperintensities on MRI Walking difficulty Polycythemia Show more (+3) |
Dystonia, limb
Walking difficulty |
|
Yes
|
♀
|
B
|
ARE
|
2
|
21
|
Yes
|
Dystonia, limb
T1 hyperintensities on MRI Microcephaly Dystonia, hand Walking difficulty Dystonia, leg Hypermanganesemia Dystonia, foot Dystonic posturing Dystonia, generalized Dystonia (any or unspecified) Rigidity Polycythemia Show more (+10) |
Dystonia, generalized
Rigidity |
|
Yes
|
♂
|
C
|
USA
|
14
|
37
|
n.a.
|
Iron disadvantage
Ferritin disadvantage Hypermanganesemia Polycythemia Delayed speech and language development T1 hyperintensities on MRI Hyperreflexia Spasticity Spastic paraparesis Show more (+6) |
Spasticity
Spastic paraparesis |