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