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