Lee, 2013: 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
|
12
|
39
|
n.a.
|
Dystonia, axial
Dystonia (any or unspecified) Dystonia, generalized Dystonia, limb Diurnal fluctuations Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
KOR
|
12
|
57
|
n.a.
|
Dystonia, lower face
Dystonia, foot Dystonia, limb Dystonia, craniofacial Tremor (any or unspecified) Dystonia (any or unspecified) Postural tremor Diurnal fluctuations Dystonia, generalized Dystonia, cervical Dystonia, axial Lower limb dystonia Dystonia, upper face Dystonia, leg Show more (+11) |
n.a.
|
|
Yes
|
♂
|
A
|
KOR
|
4
|
14
|
n.a.
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, limb Diurnal fluctuations Dystonia, axial Dyskinesia Show more (+3) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
6
|
17
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, foot Lower limb dystonia Dystonia, hand Dystonia, arm Dystonia, leg Upper limb dystonia Dystonia, limb Diurnal fluctuations Dystonia, segmental/multifocal Show more (+7) |
n.a.
|
|
Yes
|
♀
|
A
|
KOR
|
10
|
34
|
n.a.
|
Lower limb dystonia
Dystonia, leg Diurnal fluctuations Dystonia (any or unspecified) Dystonia, generalized Dystonia, foot Dystonia, cervical Dystonia, arm Dystonia, axial Dystonia, hand Dystonia, limb Upper limb dystonia Show more (+9) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
10
|
33
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, generalized Diurnal fluctuations Dystonia, axial Dystonia, limb Show more (+2) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
5
|
20
|
n.a.
|
Dystonia, leg
Dystonia, segmental/multifocal Dystonia, axial Dystonia, limb Dystonia, generalized Lower limb dystonia Dystonia, foot Diurnal fluctuations Dystonia (any or unspecified) Show more (+6) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
1
|
20
|
n.a.
|
Diurnal fluctuations
Dystonia, limb Dystonia, generalized Dystonia, foot Dystonia (any or unspecified) Dystonia, arm Dystonia, leg Lower limb dystonia Dystonia, axial Upper limb dystonia Dystonia, hand Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
KOR
|
11
|
41
|
n.a.
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Diurnal fluctuations Lower limb dystonia Dystonia, foot Dystonia, leg Dystonia, limb Show more (+4) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
6
|
13
|
n.a.
|
Dystonia, limb
Dystonia, hand Dystonia (any or unspecified) Upper limb dystonia Dystonia, leg Diurnal fluctuations Dystonia, foot Lower limb dystonia Dystonia, arm Dystonia, generalized Dystonia, axial Show more (+8) |
n.a.
|