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, limb
Dystonia, foot
Dystonia, cervical
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, leg
Dystonia, segmental/multifocal
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Dystonia, leg
p.Glu236*: het
No
n.a.
n.a.
15
54
No
Dystonia, arm
Dystonia, hand
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Diurnal fluctuations
Dystonia, foot
Dystonia, limb
Dystonia, task-specific
Upper limb dystonia
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Dystonia, foot
p.Glu236*: het