Steinberger, 2007: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
n.a.
n.a.
n.a.
Dystonia, hand
Dystonia, foot
Lower limb dystonia
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Upper limb dystonia
Dystonia, limb
Show more (+4)
n.a.
No
n.a.
n.a.
4
65
n.a.
Dystonia, limb
Dystonia, foot
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Upper limb dystonia
Lower limb dystonia
Dystonia, arm
Show more (+4)
n.a.
No
n.a.
n.a.
n.a.
30
n.a.
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Motor delay
Lower limb dystonia
Dystonia, foot
Dystonia, limb
Show more (+3)
n.a.
Yes
n.a.
n.a.
6
66
n.a.
Anarthria
Lower limb dystonia
Dystonia, segmental/multifocal
Dystonia, leg
Upper limb dystonia
Dystonia, hand
Dystonia, arm
Dystonia, cervical
Diurnal fluctuations
Torticollis
Dystonia (any or unspecified)
Show more (+8)
n.a.
Yes
n.a.
n.a.
6
11
n.a.
Lower limb dystonia
Dystonia, leg
Dystonia, limb
Dystonia, segmental/multifocal
Diurnal fluctuations
Dystonia, foot
Dystonia (any or unspecified)
Show more (+4)
n.a.
No
n.a.
n.a.
6
24
n.a.
Dystonia, foot
Upper limb dystonia
Dystonia, hand
Dystonia (any or unspecified)
Diurnal fluctuations
Dystonia, cervical
Dystonia, limb
Dystonia, segmental/multifocal
Torticollis
Lower limb dystonia
Show more (+7)
n.a.
No
n.a.
n.a.
4
n.a.
n.a.
Diurnal fluctuations
Dystonia, focal
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, foot
Lower limb dystonia
Show more (+3)
n.a.
No
n.a.
n.a.
n.a.
6
n.a.
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, limb
Lower limb dystonia
Dystonia, leg
Dystonia, foot
Show more (+3)
n.a.
Yes
n.a.
n.a.
8
52
n.a.
Dystonia (any or unspecified)
Dystonia, cervical
Torticollis
Spasticity
Dystonia, hand
Lower limb dystonia
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, foot
Postural instability
Dystonia, leg
Upper limb dystonia
Show more (+9)
n.a.