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