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