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