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