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