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