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