Zaki, 2018: 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
|
♀
|
n.a.
|
EGY
|
1
|
3
|
Yes
|
Ferritin disadvantage
Delayed gross motor development Dystonia, limb T1 hyperintensities on MRI Delayed speech and language development Polycythemia Bradykinesia Dystonia, arm Dystonia, focal Rigidity Anarthria Hypomimia Dystonia (any or unspecified) Motor delay Parkinsonism Dystonia, leg Hypermanganesemia Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
EGY
|
1
|
12
|
Yes
|
Polycythemia
T1 hyperintensities on MRI Rigidity Delayed gross motor development Dystonia (any or unspecified) Hypermanganesemia Dysarthria Hypomimia Motor delay Bradykinesia Delayed speech and language development Dystonia, arm Ferritin disadvantage Dystonia, focal Dystonia, leg Dystonia, limb Parkinsonism Show more (+14) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
EGY
|
10
|
17
|
Yes
|
Dystonia (any or unspecified)
Dysarthria Hypermanganesemia Polycythemia Parkinsonism Ferritin disadvantage Delayed gross motor development Dystonia, limb Bradykinesia Hypomimia Dystonia, leg Rigidity Motor delay T1 hyperintensities on MRI Dystonia, focal Show more (+12) |
Dystonia, leg
|
|
No
|
♀
|
n.a.
|
EGY
|
1
|
2
|
Yes
|
Dystonia, arm
Hypermanganesemia Motor delay T1 hyperintensities on MRI Rigidity Bradykinesia Dystonia, leg Dystonia, focal Hypomimia Anarthria Dystonia (any or unspecified) Polycythemia Parkinsonism Delayed speech and language development Ferritin disadvantage Delayed gross motor development Dystonia, limb Show more (+14) |
n.a.
|
|
No
|
♂
|
n.a.
|
EGY
|
2
|
10
|
Yes
|
Dystonia, leg
Rigidity Hypermanganesemia T1 hyperintensities on MRI Hypomimia Dystonia (any or unspecified) Parkinsonism Anarthria Dystonia, foot Dystonia, limb Ferritin disadvantage Polycythemia Delayed gross motor development Bradykinesia Dystonia, focal Cognitive impairment Delayed speech and language development Motor delay Show more (+15) |
Dystonia, foot
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
3
|
No
|
Bradykinesia
Ferritin disadvantage T1 hyperintensities on MRI Anarthria Hypermanganesemia Hypomimia Motor delay Parkinsonism Cognitive impairment Polycythemia Delayed speech and language development Delayed gross motor development Dystonia, focal Muscular hypotonia Show more (+11) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
2
|
No
|
Dystonia, leg
Dystonia (any or unspecified) Anarthria Bradykinesia Delayed speech and language development Dystonia, arm Dystonia, limb Rigidity Parkinsonism Ferritin disadvantage Dystonia, focal Hypermanganesemia Cognitive impairment T1 hyperintensities on MRI Delayed gross motor development Polycythemia Hypomimia Motor delay Dystonia, axial Show more (+16) |
Dystonia, axial
|
|
Yes
|
♂
|
n.a.
|
EGY
|
1
|
3
|
No
|
Dystonia, axial
Dystonia, limb Ferritin disadvantage Dystonia, focal Anarthria Hypermanganesemia Dystonia, leg Motor delay Polycythemia Dystonia, arm Parkinsonism Bradykinesia Hypomimia Rigidity T1 hyperintensities on MRI Delayed gross motor development Delayed speech and language development Dystonia (any or unspecified) Show more (+15) |
Dystonia, leg
|
|
Yes
|
♀
|
n.a.
|
EGY
|
4
|
5
|
No
|
Dystonia, foot
Delayed speech and language development Bradykinesia Polycythemia Ferritin disadvantage Dystonia, focal Delayed gross motor development Rigidity Parkinsonism Dystonia, limb Dystonia (any or unspecified) Dystonia, leg Hypermanganesemia T1 hyperintensities on MRI Motor delay Hypomimia Show more (+13) |
Dystonia, foot
|
|
Yes
|
♂
|
n.a.
|
EGY
|
2
|
11
|
Yes
|
Motor delay
Hypermanganesemia Parkinsonism Delayed gross motor development Dystonia (any or unspecified) Dystonia, leg Rigidity Dystonia, arm Bradykinesia Dystonia, limb T1 hyperintensities on MRI Polycythemia Dysarthria Dystonia, focal Ferritin disadvantage Hypomimia Show more (+13) |
n.a.
|