Garavaglia, 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
C
ITA
6
34
n.a.
Dystonia, limb
Dystonia/Parkinsonism
Dystonia, arm
Dystonia, foot
Upper limb dystonia
Hyperreflexia
Dystonia, task-specific
Parkinsonism
Lower limb dystonia
Dystonia, generalized
Diurnal fluctuations
Dystonia, axial
Dystonia, leg
Dystonia (any or unspecified)
Show more (+11)
Dystonia, foot
Yes
C
ITA
8
36
n.a.
Lower limb dystonia
Hyperreflexia
Dystonia, limb
Dystonia, hand
Dystonia, arm
Diurnal fluctuations
Dystonia, leg
Dystonia, generalized
Upper limb dystonia
Dystonia, axial
Dystonia (any or unspecified)
Show more (+8)
Dystonia, leg
c.626+1G>C: het
Yes
C
ITA
28
30
n.a.
Rigidity
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, foot
Bradykinesia
Parkinsonism
Dystonia, limb
Dystonia/Parkinsonism
Dystonia, leg
Dystonia, segmental/multifocal
Show more (+7)
Dystonia, foot
Yes
C
ITA
7
36
n.a.
Dystonia, leg
Spasticity
Dystonia/Parkinsonism
Bradykinesia
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, limb
Parkinsonism
Lower limb dystonia
Rigidity
Show more (+8)
Dystonia, foot
No
C
ITA
40
65
n.a.
Lower limb dystonia
Hand tremor
Resting tremor
Dystonia, limb
Dystonia, task-specific
Dystonia, leg
Tremor (any or unspecified)
Tremor, limb
Dystonia (any or unspecified)
Show more (+6)
Resting tremor
c.626+1G>C: het
Yes
C
ITA
0
16
n.a.
Dystonia, axial
Dystonia, generalized
Dyskinesia
Dystonia, leg
Dystonia, limb
Diurnal fluctuations
Dystonia, foot
Dystonia (any or unspecified)
Rigidity
Dystonia, arm
Dystonia, hand
Upper limb dystonia
Lower limb dystonia
Show more (+10)
n.a.
Yes
C
ITA
4
42
No
Parkinsonism
Postural instability
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, leg
Lower limb dystonia
Dystonia/Parkinsonism
Hyperreflexia
Dystonia, arm
Bradykinesia
Rigidity
Sleep benefit
Upper limb dystonia
Dystonia, axial
Diurnal fluctuations
Dystonia, limb
Dystonia, hand
Dystonia, generalized
Dystonia, task-specific
Show more (+16)
Dystonia, foot
No
C
ITA
0
16
n.a.
Dystonia, arm
Dyskinesia
Upper limb dystonia
Diurnal fluctuations
Dystonia, leg
Rigidity
Dystonia, limb
Dystonia, foot
Dystonia, hand
Dystonia, generalized
Dystonia, axial
Dystonia (any or unspecified)
Lower limb dystonia
Show more (+10)
n.a.