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
Spasticity
Hyperreflexia
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, limb
Lower limb dystonia
Diurnal fluctuations
Dystonia, task-specific
Show more (+5)
Dystonia (any or unspecified)
p.Met1Thr: het
Yes
A
CHN
8
30
No
Diurnal fluctuations
Spasticity
Hyperreflexia
Postural tremor
Tremor (any or unspecified)
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, task-specific
Rigidity
Dystonia, foot
Lower limb dystonia
Tremor, limb
Show more (+9)
Dystonia (any or unspecified)
p.Leu82Pro: het
Yes
A
CHN
25
37
No
Hyperreflexia
Upper limb dystonia
Dystonia (any or unspecified)
Dystonia, arm
Torticollis
Dystonia, cervical
Dystonia, limb
Diurnal fluctuations
Rigidity
Show more (+6)
Dystonia (any or unspecified)