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
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Lower limb dystonia
c.454-2A>G: het
Yes
n.a.
n.a.
3
28
n.a.
Spasticity
Diurnal fluctuations
Hyperreflexia
n.a.
c.454-2A>G: het
Yes
n.a.
n.a.
7
54
No
Rigidity
Hyperreflexia
Diurnal fluctuations
Bradykinesia
Parkinsonism
Spasticity
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n.a.