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