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