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