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