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