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