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