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