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 (any or unspecified)
Dystonia, segmental/multifocal
Lower limb dystonia
Dystonia, limb
Dystonia, foot
Upper limb dystonia
Show more (+4)
n.a.
No
n.a.
n.a.
4
65
n.a.
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, foot
Upper limb dystonia
Lower limb dystonia
Show more (+4)
n.a.
No
n.a.
n.a.
n.a.
30
n.a.
Dystonia, segmental/multifocal
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, limb
Lower limb dystonia
Motor delay
Show more (+3)
n.a.
Yes
n.a.
n.a.
6
66
n.a.
Upper limb dystonia
Dystonia (any or unspecified)
Dystonia, cervical
Anarthria
Torticollis
Dystonia, segmental/multifocal
Lower limb dystonia
Dystonia, leg
Dystonia, arm
Dystonia, hand
Diurnal fluctuations
Show more (+8)
n.a.
Yes
n.a.
n.a.
6
11
n.a.
Dystonia (any or unspecified)
Dystonia, foot
Lower limb dystonia
Dystonia, leg
Dystonia, segmental/multifocal
Diurnal fluctuations
Dystonia, limb
Show more (+4)
n.a.
No
n.a.
n.a.
6
24
n.a.
Dystonia, hand
Dystonia, limb
Upper limb dystonia
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, foot
Diurnal fluctuations
Torticollis
Lower limb dystonia
Show more (+7)
n.a.
No
n.a.
n.a.
4
n.a.
n.a.
Dystonia, focal
Dystonia, limb
Diurnal fluctuations
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, limb
Dystonia, foot
Dystonia, segmental/multifocal
Dystonia, leg
Dystonia (any or unspecified)
Lower limb dystonia
Show more (+3)
n.a.
Yes
n.a.
n.a.
8
52
n.a.
Dystonia, leg
Dystonia, limb
Dystonia, segmental/multifocal
Torticollis
Dystonia, cervical
Upper limb dystonia
Lower limb dystonia
Dystonia, hand
Spasticity
Dystonia, foot
Dystonia (any or unspecified)
Postural instability
Show more (+9)
n.a.