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