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