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