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
Parkinsonism
Delayed speech and language development
Hypermanganesemia
Motor delay
Ferritin disadvantage
T1 hyperintensities on MRI
Bradykinesia
Dystonia, leg
Anarthria
Hypomimia
Polycythemia
Rigidity
Dystonia, arm
Dystonia, focal
Dystonia, limb
Delayed gross motor development
Dystonia (any or unspecified)
Show more (+14)
n.a.
Yes
n.a.
EGY
1
12
Yes
T1 hyperintensities on MRI
Dystonia, focal
Delayed gross motor development
Dystonia (any or unspecified)
Ferritin disadvantage
Dystonia, arm
Hypermanganesemia
Dysarthria
Rigidity
Dystonia, leg
Delayed speech and language development
Bradykinesia
Hypomimia
Dystonia, limb
Motor delay
Parkinsonism
Polycythemia
Show more (+14)
n.a.
Yes
n.a.
EGY
10
17
Yes
Bradykinesia
Polycythemia
Dystonia, leg
T1 hyperintensities on MRI
Dystonia, limb
Delayed gross motor development
Parkinsonism
Dystonia (any or unspecified)
Dysarthria
Hypermanganesemia
Rigidity
Hypomimia
Dystonia, focal
Motor delay
Ferritin disadvantage
Show more (+12)
Dystonia, leg
c.958+1G>C: hom
No
n.a.
EGY
1
2
Yes
Bradykinesia
Dystonia, leg
T1 hyperintensities on MRI
Delayed speech and language development
Anarthria
Delayed gross motor development
Ferritin disadvantage
Dystonia, focal
Motor delay
Rigidity
Polycythemia
Hypomimia
Dystonia, arm
Hypermanganesemia
Dystonia (any or unspecified)
Dystonia, limb
Parkinsonism
Show more (+14)
n.a.
p.Leu26Pro: hom
No
n.a.
EGY
2
10
Yes
Cognitive impairment
Hypomimia
Dystonia, leg
Delayed speech and language development
Dystonia, foot
Motor delay
Dystonia (any or unspecified)
Parkinsonism
T1 hyperintensities on MRI
Rigidity
Dystonia, limb
Hypermanganesemia
Polycythemia
Anarthria
Ferritin disadvantage
Bradykinesia
Delayed gross motor development
Dystonia, focal
Show more (+15)
Dystonia, foot
c.958+1G>C: hom
Yes
n.a.
EGY
1
3
No
Anarthria
Hypomimia
Delayed gross motor development
Bradykinesia
Parkinsonism
Dystonia, focal
Hypermanganesemia
Ferritin disadvantage
Motor delay
Muscular hypotonia
Delayed speech and language development
Polycythemia
T1 hyperintensities on MRI
Cognitive impairment
Show more (+11)
n.a.
p.Asp40Ala: hom
Yes
n.a.
EGY
1
2
No
T1 hyperintensities on MRI
Dystonia, arm
Dystonia, axial
Bradykinesia
Rigidity
Motor delay
Delayed gross motor development
Dystonia, leg
Ferritin disadvantage
Dystonia, focal
Dystonia, limb
Hypermanganesemia
Anarthria
Cognitive impairment
Hypomimia
Dystonia (any or unspecified)
Polycythemia
Delayed speech and language development
Parkinsonism
Show more (+16)
Dystonia, axial
p.Tyr30*: hom
Yes
n.a.
EGY
1
3
No
Dystonia, focal
Delayed speech and language development
T1 hyperintensities on MRI
Anarthria
Ferritin disadvantage
Motor delay
Bradykinesia
Dystonia, limb
Delayed gross motor development
Dystonia, arm
Rigidity
Dystonia, leg
Parkinsonism
Dystonia (any or unspecified)
Hypomimia
Dystonia, axial
Polycythemia
Hypermanganesemia
Show more (+15)
Dystonia, leg
p.Ser41del: hom
Yes
n.a.
EGY
4
5
No
Dystonia, leg
Hypermanganesemia
Dystonia, focal
T1 hyperintensities on MRI
Hypomimia
Polycythemia
Dystonia (any or unspecified)
Dystonia, limb
Rigidity
Delayed gross motor development
Bradykinesia
Parkinsonism
Motor delay
Dystonia, foot
Ferritin disadvantage
Delayed speech and language development
Show more (+13)
Dystonia, foot
p.Leu26Pro: hom
Yes
n.a.
EGY
2
11
Yes
Dystonia, focal
Dystonia, leg
Hypermanganesemia
Dystonia, limb
Polycythemia
Dysarthria
Rigidity
Bradykinesia
Ferritin disadvantage
Parkinsonism
Delayed gross motor development
Dystonia, arm
Dystonia (any or unspecified)
Motor delay
Hypomimia
T1 hyperintensities on MRI
Show more (+13)
n.a.
p.Leu26Pro: hom