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