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