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