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