López-Laso, 2009: 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
ESP
7
41
n.a.
Tremor (any or unspecified)
Dystonia (any or unspecified)
Tremor, limb
Diurnal fluctuations
Show more (+1)
n.a.
p.Gln89*: het
Yes
C
ESP
33
33
n.a.
Dystonia, craniofacial
Dystonia, generalized
Diurnal fluctuations
Hyperreflexia
Dyskinesia
Sleep benefit
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, foot
Upper limb dystonia
Dystonia, arm
Dystonia, hand
Lower limb dystonia
Dystonia, limb
Dystonia, leg
Tremor (any or unspecified)
Hand tremor
Rigidity
Dystonia, lower face
Tremor, action
Dystonia, upper face
Postural instability
Show more (+19)
n.a.
p.Gln89*: het
No
C
ESP
12
18
n.a.
Dystonia, axial
Dystonia, limb
Dystonia, hand
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, generalized
Postural instability
Upper limb dystonia
Show more (+5)
n.a.
p.Gln89*: het
No
C
ESP
66
68
n.a.
Tremor, limb
Rigidity
Resting tremor
Parkinsonism
Motor fluctuations
Bradykinesia
Hand tremor
Tremor (any or unspecified)
Show more (+5)
n.a.
p.Gln89*: het
No
C
ESP
47
72
n.a.
Tremor (any or unspecified)
Resting tremor
Rigidity
Parkinsonism
Bradykinesia
Show more (+2)
n.a.
p.Gln89*: het
No
C
ESP
n.a.
66
n.a.
Tremor (any or unspecified)
Bradykinesia
Resting tremor
Parkinsonism
Tremor, limb
Show more (+2)
n.a.
p.Gln89*: het
No
C
ESP
38
42
n.a.
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
Retrocollis
Show more (+1)
n.a.
p.Gln89*: het
No
C
ESP
8
41
n.a.
Diurnal fluctuations
Tremor (any or unspecified)
Postural tremor
Postural instability
Dystonia (any or unspecified)
Tremor, limb
Show more (+3)
n.a.
p.Gln89*: het
Yes
C
ESP
1
1
n.a.
Hyperreflexia
Parkinsonism
Motor delay
Global developmental delay
Rigidity
Bradykinesia
Show more (+3)
n.a.
p.Gln89*: het
No
C
ESP
14
n.a.
n.a.
Dystonia (any or unspecified)
Dystonia, cervical
Postural tremor
Tremor (any or unspecified)
Show more (+1)
n.a.
p.Gln89*: het