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