Uncini, 2004: Overview of all reported DYT/PARK-GCH1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
n.a.
ITA
50
58
n.a.
Resting tremor
Hand tremor
Tremor (any or unspecified)
Parkinsonism
Tremor, limb
Rigidity
Show more (+3)
Tremor (any or unspecified)
No
♂
n.a.
ITA
6
33
n.a.
Lower limb dystonia
Dystonia (any or unspecified)
Diurnal fluctuations
Dystonia, limb
Dystonia, foot
Show more (+2)
Dystonia, foot
No
♀
n.a.
ITA
5
60
n.a.
Tremor, limb
Parkinsonism
Diurnal fluctuations
Lower limb dystonia
Upper limb dystonia
Postural instability
Postural tremor
Hand tremor
Rigidity
Dystonia/Parkinsonism
Tremor (any or unspecified)
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, hand
Show more (+12)
Dystonia, foot
No
♀
n.a.
ITA
n.a.
47
n.a.
Hand tremor
Lower limb dystonia
Tremor (any or unspecified)
Dystonia, limb
Tremor, limb
Dystonia/Parkinsonism
Rigidity
Bradykinesia
Postural tremor
Dystonia (any or unspecified)
Resting tremor
Dystonia, foot
Parkinsonism
Diurnal fluctuations
Show more (+11)
Dystonia, foot
No
♀
n.a.
ITA
6
27
n.a.
Dystonia (any or unspecified)
Dystonia, task-specific
Lower limb dystonia
Dystonia, limb
Dystonia, foot
Diurnal fluctuations
Show more (+3)
n.a.
No
♂
n.a.
ITA
n.a.
62
n.a.
Tremor (any or unspecified)
Dystonia, foot
Bradykinesia
Dystonia (any or unspecified)
Diurnal fluctuations
Lower limb dystonia
Parkinsonism
Dystonia/Parkinsonism
Resting tremor
Tremor, limb
Hand tremor
Dystonia, limb
Rigidity
Postural tremor
Show more (+11)
Dystonia, foot
Yes
♂
n.a.
ITA
n.a.
30
n.a.
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, foot
Show more (+1)
n.a.
No
♂
n.a.
ITA
2
53
n.a.
Dystonia, leg
Upper limb dystonia
Dystonia, limb
Dystonia/Parkinsonism
Postural instability
Dystonia, foot
Lower limb dystonia
Bradykinesia
Dystonia, hand
Parkinsonism
Dystonia, arm
Rigidity
Dystonia (any or unspecified)
Show more (+10)
n.a.
No
♂
n.a.
ITA
46
65
n.a.
Parkinsonism
Rigidity
Tremor (any or unspecified)
Resting tremor
Tremor, limb
Hand tremor
Postural instability
Bradykinesia
Show more (+5)
Tremor (any or unspecified)
No
♀
n.a.
ITA
4
51
n.a.
Dystonia/Parkinsonism
Diurnal fluctuations
Parkinsonism
Tremor (any or unspecified)
Rigidity
Dystonia, foot
Dystonia, limb
Resting tremor
Dystonia (any or unspecified)
Lower limb dystonia
Bradykinesia
Show more (+8)
Dystonia, foot