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