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