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