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
|
Bradykinesia
Dystonia, segmental/multifocal Parkinsonism Dystonia/Parkinsonism Dystonia, cervical Dystonia, limb Dystonia (any or unspecified) Postural instability Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
15
|
34
|
No
|
Dystonia, generalized
Dystonia, axial Dystonia, cervical Bradykinesia Parkinsonism Dystonia (any or unspecified) Dystonia/Parkinsonism Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
6
|
62
|
No
|
Tremor, action
Rigidity Dystonia/Parkinsonism Bradykinesia Dyskinesia Tremor (any or unspecified) Resting tremor Dystonia, generalized Postural instability Dystonia, axial Dystonia (any or unspecified) Dystonia, cervical Dystonia, limb Parkinsonism Show more (+11) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
4
|
23
|
No
|
Dystonia (any or unspecified)
Parkinsonism Dystonia, segmental/multifocal Dystonia, limb Dystonia/Parkinsonism Bradykinesia Dystonia, cervical Rigidity Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
6
|
43
|
No
|
Bradykinesia
Rigidity Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, cervical Postural instability Dystonia, limb Dystonia/Parkinsonism Parkinsonism Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
3
|
30
|
No
|
Dystonia/Parkinsonism
Dystonia, generalized Dystonia (any or unspecified) Bradykinesia Dystonia, cervical Dystonia, limb Dystonia, axial Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
6
|
41
|
No
|
Dystonia, upper face
Dystonia, cervical Dystonia/Parkinsonism Dystonia, generalized Bradykinesia Dystonia, lower face Postural instability Dystonia, axial Dystonia (any or unspecified) Parkinsonism Dystonia, craniofacial Dystonia, limb Show more (+9) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
76
|
No
|
Dystonia/Parkinsonism
Dystonia (any or unspecified) Postural instability Parkinsonism Show more (+1) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
46
|
No
|
Parkinsonism
Bradykinesia |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
50
|
67
|
No
|
Rigidity
Bradykinesia Parkinsonism |
n.a.
|