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