Yan, 2017: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
CHN
5
n.a.
n.a.
Dystonia (any or unspecified)
Diurnal fluctuations
n.a.
p.Ala98Val: het
No
A
CHN
53
n.a.
n.a.
Postural instability
Bradykinesia
Parkinsonism
Rigidity
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Bradykinesia
c.454-2A>G: het
Yes
A
CHN
8
n.a.
n.a.
Diurnal fluctuations
Lower limb dystonia
Dystonia, foot
Dystonia, limb
Dystonia (any or unspecified)
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Dystonia, foot
c.454-2A>G: het
Yes
A
CHN
4
n.a.
n.a.
Dystonia (any or unspecified)
Diurnal fluctuations
n.a.
p.Ala98Val: het
Yes
A
CHN
35
n.a.
n.a.
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, limb
Diurnal fluctuations
Dystonia, foot
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n.a.
No
A
CHN
12
n.a.
n.a.
Lower limb dystonia
Diurnal fluctuations
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, limb
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n.a.
No
A
CHN
54
n.a.
n.a.
Diurnal fluctuations
Dystonia, limb
Dystonia, foot
Dystonia (any or unspecified)
Lower limb dystonia
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n.a.