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