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