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