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