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