Steinberger, 1998: 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
C
DEU
n.a.
n.a.
n.a.
Lower limb dystonia
Tremor (any or unspecified)
Dystonia, segmental/multifocal
Hand tremor
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, limb
Show more (+4)
n.a.
p.Gln182*: het
No
C
DEU
n.a.
52
n.a.
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, hand
Dystonia, task-specific
Lower limb dystonia
Upper limb dystonia
Dystonia, leg
Dystonia, limb
Show more (+6)
n.a.
c.454-2A>G: het
No
C
DEU
n.a.
37
n.a.
Dystonia, arm
Dystonia, hand
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Upper limb dystonia
Dystonia, foot
Lower limb dystonia
Dystonia, limb
Show more (+5)
n.a.
Yes
C
DEU
8
27
n.a.
Dystonia, task-specific
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, foot
Lower limb dystonia
Diurnal fluctuations
Show more (+3)
n.a.
c.454-2A>G: het
Yes
C
DEU
n.a.
22
n.a.
Lower limb dystonia
Diurnal fluctuations
Dystonia, limb
Dystonia, foot
Dystonia (any or unspecified)
Show more (+2)
n.a.
No
C
DEU
n.a.
61
n.a.
Dystonia, hand
Upper limb dystonia
Lower limb dystonia
Dystonia, foot
Dystonia, task-specific
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia (any or unspecified)
Show more (+5)
n.a.
c.454-2A>G: het
Yes
C
DEU
3
18
n.a.
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, limb
Diurnal fluctuations
Show more (+2)
Dystonia, foot
c.344-2A>G: het
No
C
DEU
n.a.
66
n.a.
Tremor, limb
Rigidity
Hand tremor
Upper limb dystonia
Dystonia, hand
Dystonia (any or unspecified)
Tremor (any or unspecified)
Parkinsonism
Resting tremor
Dystonia, focal
Dystonia/Parkinsonism
Bradykinesia
Show more (+9)
n.a.
c.344-2A>G: het
No
C
DEU
n.a.
29
n.a.
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, lower face
Dystonia, foot
Dystonia, craniofacial
Dystonia, limb
Dystonia, segmental/multifocal
Show more (+4)
n.a.
p.Gln182*: het
No
C
DEU
n.a.
47
n.a.
Upper limb dystonia
Dystonia, focal
Dystonia (any or unspecified)
Dystonia, hand
Show more (+1)
Dystonia, hand
p.Gln182*: het