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