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