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