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