Yang, 2018: 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
TWN
14
61
n.a.
Dystonia, leg
Tremor (any or unspecified)
Dystonia, limb
Dystonia (any or unspecified)
Parkinsonism
Dystonia/Parkinsonism
Bradykinesia
Lower limb dystonia
Dystonia, segmental/multifocal
Tremor, limb
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Dystonia, leg
p.Arg88Leu: het
Yes
♀
A
TWN
15
23
n.a.
Dystonia, foot
Dystonia, limb
Dystonia, leg
Dystonia, segmental/multifocal
Diurnal fluctuations
Dystonia (any or unspecified)
Lower limb dystonia
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Dystonia, foot
p.Arg88Leu: het