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