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