Uncini, 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
|
♂
|
n.a.
|
ITA
|
50
|
58
|
n.a.
|
Rigidity
Parkinsonism Resting tremor Tremor (any or unspecified) Hand tremor Tremor, limb Show more (+3) |
Tremor (any or unspecified)
|
|
No
|
♂
|
n.a.
|
ITA
|
6
|
33
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, foot Dystonia, limb Diurnal fluctuations Lower limb dystonia Show more (+2) |
Dystonia, foot
|
|
No
|
♀
|
n.a.
|
ITA
|
5
|
60
|
n.a.
|
Diurnal fluctuations
Dystonia (any or unspecified) Postural tremor Dystonia, hand Hand tremor Tremor, limb Dystonia, limb Parkinsonism Rigidity Tremor (any or unspecified) Postural instability Lower limb dystonia Dystonia, foot Dystonia/Parkinsonism Upper limb dystonia Show more (+12) |
Dystonia, foot
|
|
No
|
♀
|
n.a.
|
ITA
|
n.a.
|
47
|
n.a.
|
Rigidity
Parkinsonism Tremor (any or unspecified) Dystonia/Parkinsonism Postural tremor Hand tremor Dystonia (any or unspecified) Bradykinesia Lower limb dystonia Dystonia, limb Tremor, limb Diurnal fluctuations Dystonia, foot Resting tremor Show more (+11) |
Dystonia, foot
|
|
No
|
♀
|
n.a.
|
ITA
|
6
|
27
|
n.a.
|
Lower limb dystonia
Dystonia, foot Dystonia, task-specific Dystonia (any or unspecified) Dystonia, limb Diurnal fluctuations Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
ITA
|
n.a.
|
62
|
n.a.
|
Dystonia, limb
Rigidity Resting tremor Lower limb dystonia Postural tremor Parkinsonism Diurnal fluctuations Dystonia (any or unspecified) Dystonia/Parkinsonism Bradykinesia Dystonia, foot Tremor, limb Tremor (any or unspecified) Hand tremor Show more (+11) |
Dystonia, foot
|
|
Yes
|
♂
|
n.a.
|
ITA
|
n.a.
|
30
|
n.a.
|
n.a.
|
||
No
|
♂
|
n.a.
|
ITA
|
2
|
53
|
n.a.
|
Bradykinesia
Dystonia, arm Dystonia, foot Lower limb dystonia Rigidity Postural instability Dystonia, leg Dystonia (any or unspecified) Upper limb dystonia Parkinsonism Dystonia, hand Dystonia, limb Dystonia/Parkinsonism Show more (+10) |
n.a.
|
|
No
|
♂
|
n.a.
|
ITA
|
46
|
65
|
n.a.
|
Hand tremor
Parkinsonism Tremor (any or unspecified) Tremor, limb Postural instability Bradykinesia Rigidity Resting tremor Show more (+5) |
Tremor (any or unspecified)
|
|
No
|
♀
|
n.a.
|
ITA
|
4
|
51
|
n.a.
|
Tremor (any or unspecified)
Dystonia, limb Parkinsonism Dystonia, foot Resting tremor Lower limb dystonia Diurnal fluctuations Bradykinesia Dystonia (any or unspecified) Dystonia/Parkinsonism Rigidity Show more (+8) |
Dystonia, foot
|