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