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