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
Diurnal fluctuations
Sleep benefit
Lower limb dystonia
Dystonia, foot
Dystonia, limb
Tremor (any or unspecified)
Dystonia (any or unspecified)
Show more (+4)
Dystonia, limb
p.Glu61*: het
No
A
JPN
19
60
n.a.
Dystonia, hand
Dystonia (any or unspecified)
Resting tremor
Dystonia, cervical
Sleep benefit
Tremor (any or unspecified)
Upper limb dystonia
Show more (+4)
n.a.
No
A
JPN
10
26
n.a.
Dystonia, arm
Dystonia, limb
Sleep benefit
Depression
Dystonia (any or unspecified)
Upper limb dystonia
Diurnal fluctuations
Show more (+4)
Dystonia, limb
No
A
JPN
10
67
n.a.
Lower limb dystonia
Motor fluctuations
Rigidity
Diurnal fluctuations
Dyskinesia
Cognitive impairment
Sleep benefit
Depression
Dystonia, foot
Dystonia, limb
Dystonia (any or unspecified)
Show more (+8)
Dystonia, foot
c.626+2T>G: het
Yes
A
JPN
47
57
n.a.
Dystonia, limb
Dystonia (any or unspecified)
Hyperreflexia
Sleep benefit
Postural instability
Show more (+2)
n.a.
Yes
A
JPN
64
67
n.a.
Dystonia, leg
Dystonia, limb
Rigidity
Dystonia, foot
Dyskinesia
Parkinsonism
Dystonia/Parkinsonism
Resting tremor
Dystonia (any or unspecified)
Tremor (any or unspecified)
Lower limb dystonia
Show more (+8)
Dystonia, foot
c.626+2T>G: het
Yes
A
JPN
59
73
n.a.
Parkinsonism
Rigidity
Cognitive impairment
Tremor (any or unspecified)
Postural instability
Autonomic sign/sympt.
Show more (+3)
n.a.
Yes
A
JPN
11
29
n.a.
Upper limb dystonia
Dystonia, arm
Dystonia, limb
Dystonia (any or unspecified)
Sleep benefit
Diurnal fluctuations
Show more (+3)
Dystonia, limb
Yes
A
JPN
10
41
n.a.
Dystonia, limb
Dystonia (any or unspecified)
n.a.
p.Gln182*: het
Yes
A
JPN
8
48
n.a.
Sleep benefit
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, foot
Lower limb dystonia
Diurnal fluctuations
Show more (+3)
Dystonia, limb
p.Cys18*: het