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.
Lower limb dystonia
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia, leg
Dystonia, cervical
Dystonia, foot
Dystonia (any or unspecified)
Show more (+4)
Dystonia, leg
p.Glu236*: het
No
n.a.
n.a.
15
54
No
Diurnal fluctuations
Dystonia, task-specific
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, arm
Upper limb dystonia
Dystonia, limb
Dystonia, segmental/multifocal
Lower limb dystonia
Dystonia, foot
Show more (+7)
Dystonia, foot
p.Glu236*: het