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