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