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