Irie, 2011: 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
n.a.
n.a.
13
42
n.a.
Diurnal fluctuations
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, segmental/multifocal
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n.a.
c.509+1G>A: het
Yes
n.a.
n.a.
47
66
n.a.
Upper limb dystonia
Rigidity
Tremor (any or unspecified)
Hand tremor
Dystonia, hand
Postural tremor
Dyskinesia
Motor fluctuations
Dystonia, limb
Dystonia/Parkinsonism
Lower limb dystonia
Parkinsonism
Dystonia, foot
Dystonia (any or unspecified)
Postural instability
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n.a.
c.509+1G>A: het