Cao, 2010: 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
CHN
10
24
No
Dystonia, task-specific
Dystonia, foot
Spasticity
Diurnal fluctuations
Dystonia (any or unspecified)
Lower limb dystonia
Hyperreflexia
Dystonia, limb
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Dystonia (any or unspecified)
p.Met1Thr: het
Yes
A
CHN
8
30
No
Tremor, limb
Dystonia (any or unspecified)
Postural tremor
Lower limb dystonia
Tremor (any or unspecified)
Diurnal fluctuations
Hyperreflexia
Dystonia, task-specific
Spasticity
Rigidity
Dystonia, limb
Dystonia, foot
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Dystonia (any or unspecified)
p.Leu82Pro: het
Yes
A
CHN
25
37
No
Dystonia, cervical
Hyperreflexia
Rigidity
Upper limb dystonia
Dystonia, arm
Dystonia (any or unspecified)
Torticollis
Dystonia, limb
Diurnal fluctuations
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Dystonia (any or unspecified)