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