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