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.
|
|
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.
|
|
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.
|
|
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.
|
|
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.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
76
|
No
|
Dystonia/Parkinsonism
Parkinsonism Dystonia (any or unspecified) Postural instability Show more (+1) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
7
|
46
|
No
|
Bradykinesia
Parkinsonism |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
50
|
67
|
No
|
Parkinsonism
Rigidity Bradykinesia |
n.a.
|