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