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