Krim, 2018: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
18
23
n.a.
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia, foot
Dystonia, leg
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Dystonia, leg
p.Glu236*: het
No
n.a.
n.a.
15
54
No
Diurnal fluctuations
Dystonia, hand
Upper limb dystonia
Lower limb dystonia
Dystonia, task-specific
Dystonia, foot
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, segmental/multifocal
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Dystonia, foot
p.Glu236*: het