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