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