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