Mencacci, 2014: 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
|
♂
|
C
|
n.a.
|
66
|
67
|
n.a.
|
Resting tremor
Rigidity Tremor (any or unspecified) Parkinsonism Bradykinesia Hand tremor Show more (+3) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
4
|
41
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, foot Lower limb dystonia |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
32
|
63
|
n.a.
|
Abnormality of the sense of smell
Dystonia/Parkinsonism Motor fluctuations Lower limb dystonia Parkinsonism Tremor (any or unspecified) Postural instability Dystonia, foot Dystonia, task-specific Rigidity Dyskinesia NMS parkinsonism Dystonia, focal Postural tremor Dystonia (any or unspecified) Bradykinesia Resting tremor Show more (+14) |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
2
|
18
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
C
|
EST
|
61
|
75
|
n.a.
|
Dystonia/Parkinsonism
Dystonia (any or unspecified) Abnormality of the sense of smell NMS parkinsonism Postural tremor Tremor (any or unspecified) Motor fluctuations Bradykinesia Rigidity Dystonia, limb Resting tremor Sleep disorder Dystonia, foot Dystonia, leg Dystonia, segmental/multifocal Parkinsonism Lower limb dystonia Show more (+14) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
39
|
47
|
n.a.
|
Rigidity
Lower limb dystonia Dystonia, focal Dystonia, foot Dystonia (any or unspecified) Parkinsonism Dyskinesia Bradykinesia Dystonia/Parkinsonism Dystonia, limb Show more (+7) |
n.a.
|
|
Yes
|
♀
|
C
|
USA
|
43
|
47
|
n.a.
|
Parkinsonism
Postural tremor Tremor (any or unspecified) Resting tremor Bradykinesia Rigidity Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
EST
|
45
|
58
|
n.a.
|
Tremor (any or unspecified)
Bradykinesia NMS parkinsonism Motor fluctuations Abnormality of the sense of smell Rigidity Postural instability Parkinsonism Sleep disorder Dyskinesia Show more (+7) |
n.a.
|
|
Yes
|
♂
|
C
|
USA
|
37
|
55
|
n.a.
|
Tremor (any or unspecified)
Postural instability Dyskinesia Bradykinesia Parkinsonism Rigidity Motor fluctuations Resting tremor NMS parkinsonism Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
USA
|
52
|
57
|
n.a.
|
Bradykinesia
Tremor (any or unspecified) Rigidity Tremor, limb Resting tremor Parkinsonism Show more (+3) |
n.a.
|