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