Weissbach, 2015: 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
C
n.a.
2
47
No
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Parkinsonism
Postural instability
Dystonia/Parkinsonism
Bradykinesia
Dystonia, cervical
Dystonia, limb
Show more (+5)
n.a.
p.Glu61*: het
Yes
C
n.a.
15
34
No
Dystonia/Parkinsonism
Dystonia, generalized
Dystonia (any or unspecified)
Bradykinesia
Parkinsonism
Dystonia, axial
Dystonia, cervical
Show more (+4)
n.a.
p.Arg88Gly: het
Yes
C
n.a.
6
62
No
Dystonia (any or unspecified)
Bradykinesia
Dystonia/Parkinsonism
Tremor, action
Dystonia, generalized
Tremor (any or unspecified)
Dyskinesia
Dystonia, axial
Resting tremor
Parkinsonism
Rigidity
Dystonia, cervical
Dystonia, limb
Postural instability
Show more (+11)
n.a.
p.Pro69Leu: het
Yes
C
n.a.
4
23
No
Rigidity
Dystonia (any or unspecified)
Parkinsonism
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia/Parkinsonism
Bradykinesia
Dystonia, limb
Show more (+5)
n.a.
Yes
C
n.a.
6
43
No
Bradykinesia
Dystonia/Parkinsonism
Postural instability
Dystonia (any or unspecified)
Parkinsonism
Rigidity
Dystonia, cervical
Dystonia, limb
Dystonia, segmental/multifocal
Show more (+6)
n.a.
Yes
C
n.a.
3
30
No
Dystonia, generalized
Dystonia (any or unspecified)
Bradykinesia
Dystonia, cervical
Dystonia, limb
Dystonia, axial
Dystonia/Parkinsonism
Show more (+4)
n.a.
c.453+1G>A: het
Yes
C
n.a.
6
41
No
Dystonia, craniofacial
Postural instability
Dystonia (any or unspecified)
Bradykinesia
Dystonia, upper face
Dystonia, generalized
Dystonia, lower face
Dystonia/Parkinsonism
Dystonia, limb
Dystonia, cervical
Dystonia, axial
Parkinsonism
Show more (+9)
n.a.
p.Arg88Gln: het
Yes
C
n.a.
7
76
No
Postural instability
Dystonia (any or unspecified)
Dystonia/Parkinsonism
Parkinsonism
Show more (+1)
n.a.
p.Glu61*: het
Yes
C
n.a.
7
46
No
Parkinsonism
Bradykinesia
n.a.
p.Thr94Met: het
Yes
C
n.a.
50
67
No
Rigidity
Parkinsonism
Bradykinesia
n.a.