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