Yoshino, 2018: 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
|
JPN
|
34
|
50
|
No
|
Lower limb dystonia
Sleep benefit Diurnal fluctuations Dystonia, foot Dystonia, limb Dystonia (any or unspecified) Tremor (any or unspecified) Show more (+4) |
Dystonia, limb
|
|
No
|
♂
|
A
|
JPN
|
19
|
60
|
n.a.
|
Sleep benefit
Dystonia (any or unspecified) Dystonia, cervical Dystonia, hand Upper limb dystonia Tremor (any or unspecified) Resting tremor Show more (+4) |
n.a.
|
|
No
|
♀
|
A
|
JPN
|
10
|
26
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, arm Diurnal fluctuations Depression Upper limb dystonia Dystonia, limb Sleep benefit Show more (+4) |
Dystonia, limb
|
|
No
|
♀
|
A
|
JPN
|
10
|
67
|
n.a.
|
Rigidity
Cognitive impairment Depression Dystonia, foot Motor fluctuations Dyskinesia Dystonia, limb Sleep benefit Lower limb dystonia Dystonia (any or unspecified) Diurnal fluctuations Show more (+8) |
Dystonia, foot
|
|
Yes
|
♀
|
A
|
JPN
|
47
|
57
|
n.a.
|
Dystonia (any or unspecified)
Sleep benefit Postural instability Dystonia, limb Hyperreflexia Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
JPN
|
64
|
67
|
n.a.
|
Dyskinesia
Dystonia (any or unspecified) Rigidity Resting tremor Tremor (any or unspecified) Dystonia/Parkinsonism Lower limb dystonia Parkinsonism Dystonia, foot Dystonia, leg Dystonia, limb Show more (+8) |
Dystonia, foot
|
|
Yes
|
♀
|
A
|
JPN
|
59
|
73
|
n.a.
|
Postural instability
Rigidity Cognitive impairment Tremor (any or unspecified) Autonomic sign/sympt. Parkinsonism Show more (+3) |
n.a.
|
|
Yes
|
♀
|
A
|
JPN
|
11
|
29
|
n.a.
|
Diurnal fluctuations
Dystonia, arm Sleep benefit Dystonia, limb Upper limb dystonia Dystonia (any or unspecified) Show more (+3) |
Dystonia, limb
|
|
Yes
|
♀
|
A
|
JPN
|
10
|
41
|
n.a.
|
Dystonia, limb
Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♀
|
A
|
JPN
|
8
|
48
|
n.a.
|
Dystonia, limb
Diurnal fluctuations Dystonia (any or unspecified) Dystonia, foot Sleep benefit Lower limb dystonia Show more (+3) |
Dystonia, limb
|