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