Naiya, 2012: 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.
IND
5
14
n.a.
Upper limb dystonia
Dystonia, generalized
Tremor, action
Lower limb dystonia
Diurnal fluctuations
Dystonia, cervical
Parkinsonism
Bradykinesia
Dystonia, limb
Tremor, limb
Dystonia, hand
Dystonia, leg
Resting tremor
Dystonia/Parkinsonism
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, axial
Dystonia, foot
Show more (+15)
n.a.
p.Met1Val: het
Yes
n.a.
IND
18
20
n.a.
Dystonia, generalized
Dystonia, limb
Dystonia, hand
Dystonia, foot
Dystonia, leg
Upper limb dystonia
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, arm
Show more (+7)
Dystonia (any or unspecified)
No
n.a.
IND
n.a.
60
n.a.
Dystonia, limb
Tremor, limb
Dystonia, leg
Lower limb dystonia
Dystonia, focal
Dystonia (any or unspecified)
Tremor (any or unspecified)
Show more (+4)
n.a.
No
n.a.
IND
17
18
n.a.
Dystonia, segmental/multifocal
Dystonia, task-specific
Diurnal fluctuations
Lower limb dystonia
Dystonia, foot
Dystonia, limb
Dystonia, leg
Dystonia (any or unspecified)
Postural instability
Show more (+6)
n.a.
p.Met1Val: het