Garavaglia, 2004: 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
|
ITA
|
6
|
34
|
n.a.
|
Dystonia/Parkinsonism
Dystonia (any or unspecified) Upper limb dystonia Hyperreflexia Dystonia, axial Parkinsonism Dystonia, arm Dystonia, leg Dystonia, foot Diurnal fluctuations Lower limb dystonia Dystonia, limb Dystonia, generalized Dystonia, task-specific Show more (+11) |
Dystonia, foot
|
|
Yes
|
♀
|
C
|
ITA
|
8
|
36
|
n.a.
|
Hyperreflexia
Dystonia (any or unspecified) Dystonia, hand Dystonia, generalized Dystonia, axial Diurnal fluctuations Dystonia, limb Upper limb dystonia Dystonia, leg Dystonia, arm Lower limb dystonia Show more (+8) |
Dystonia, leg
|
|
Yes
|
♀
|
C
|
ITA
|
28
|
30
|
n.a.
|
Parkinsonism
Dystonia, limb Dystonia, foot Bradykinesia Dystonia/Parkinsonism Dystonia, leg Dystonia, segmental/multifocal Lower limb dystonia Rigidity Dystonia (any or unspecified) Show more (+7) |
Dystonia, foot
|
|
Yes
|
♂
|
C
|
ITA
|
7
|
36
|
n.a.
|
Dystonia, limb
Bradykinesia Dystonia, segmental/multifocal Spasticity Lower limb dystonia Rigidity Dystonia, leg Dystonia (any or unspecified) Dystonia, foot Dystonia/Parkinsonism Parkinsonism Show more (+8) |
Dystonia, foot
|
|
No
|
♂
|
C
|
ITA
|
40
|
65
|
n.a.
|
Tremor (any or unspecified)
Tremor, limb Dystonia, task-specific Resting tremor Hand tremor Dystonia (any or unspecified) Dystonia, limb Dystonia, leg Lower limb dystonia Show more (+6) |
Resting tremor
|
|
Yes
|
♀
|
C
|
ITA
|
0
|
16
|
n.a.
|
Dyskinesia
Diurnal fluctuations Upper limb dystonia Dystonia, limb Dystonia (any or unspecified) Dystonia, axial Rigidity Dystonia, arm Dystonia, hand Lower limb dystonia Dystonia, leg Dystonia, foot Dystonia, generalized Show more (+10) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
42
|
No
|
Dystonia/Parkinsonism
Postural instability Dystonia, hand Diurnal fluctuations Dystonia, arm Bradykinesia Dystonia, task-specific Hyperreflexia Dystonia (any or unspecified) Lower limb dystonia Sleep benefit Dystonia, leg Parkinsonism Dystonia, limb Dystonia, generalized Upper limb dystonia Dystonia, foot Dystonia, axial Rigidity Show more (+16) |
Dystonia, foot
|
|
No
|
♀
|
C
|
ITA
|
0
|
16
|
n.a.
|
Diurnal fluctuations
Dystonia (any or unspecified) Lower limb dystonia Rigidity Dystonia, leg Dystonia, arm Dystonia, generalized Dystonia, hand Dystonia, limb Dystonia, foot Dyskinesia Dystonia, axial Upper limb dystonia Show more (+10) |
n.a.
|