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