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