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