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