Wassenberg, 2020: 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
|
♀
|
n.a.
|
n.a.
|
14
|
59
|
No
|
Dystonia, arm
Spasticity Dystonia, segmental/multifocal Parkinsonism Hyperreflexia Dystonia, limb Bradykinesia Diurnal fluctuations Autonomic sign/sympt. Dystonia/Parkinsonism Dyskinesia Dystonia (any or unspecified) Dystonia, cervical Upper limb dystonia Show more (+11) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
2
|
58
|
n.a.
|
Diurnal fluctuations
Dystonia, axial Dystonia/Parkinsonism Dystonia, limb Hyperreflexia Parkinsonism Dystonia, leg Dystonia (any or unspecified) Dystonia, generalized Lower limb dystonia Autonomic sign/sympt. Dystonia, cervical Spasticity Dystonia, foot Show more (+11) |
Lower limb dystonia
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
28
|
n.a.
|
Spasticity
Diurnal fluctuations Hyperreflexia |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
54
|
No
|
n.a.
|