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