Ahn, 2019: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
KOR
6
21
n.a.
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, axial
n.a.
Yes
A
KOR
9
19
n.a.
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, limb
Dystonia, focal
Dystonia/Parkinsonism
Parkinsonism
Show more (+4)
n.a.
Yes
A
KOR
9
47
n.a.
Dystonia (any or unspecified)
Upper limb dystonia
Dystonia/Parkinsonism
Dystonia, generalized
Parkinsonism
Dystonia, limb
Dystonia, foot
Lower limb dystonia
Dystonia, hand
Show more (+6)
n.a.
c.453+3A>T: het
Yes
A
KOR
13
35
n.a.
Dystonia (any or unspecified)
Dystonia, limb
Lower limb dystonia
Dystonia, generalized
Dystonia, foot
Dystonia, leg
Show more (+3)
n.a.
p.Ala74Asp: het
Yes
A
KOR
7
22
n.a.
Dystonia (any or unspecified)
Dystonia, generalized
n.a.
p.Arg216*: het
Yes
A
KOR
3
22
n.a.
Dystonia (any or unspecified)
Dystonia, generalized
n.a.
Yes
A
KOR
8
21
n.a.
Dystonia, generalized
Dystonia (any or unspecified)
n.a.
Yes
A
KOR
8
17
n.a.
Dystonia (any or unspecified)
Dystonia, focal
n.a.
p.Ala98Thr: het
Yes
A
KOR
21
43
n.a.
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
n.a.
Yes
A
KOR
20
34
n.a.
Dystonia, generalized
Dystonia (any or unspecified)
n.a.
c.509+2T>C: het