Furuya, 2006: 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
43
46
No
Dystonia, foot
Resting tremor
Hand tremor
Postural instability
Dystonia (any or unspecified)
Postural tremor
Lower limb dystonia
Diurnal fluctuations
Dystonia, leg
Parkinsonism
Bradykinesia
Tremor (any or unspecified)
Dystonia, limb
Hyperreflexia
Dystonia/Parkinsonism
Rigidity
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Tremor (any or unspecified)
p.Trp53*: het