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