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.
Dystonia, limb
Dystonia (any or unspecified)
Lower limb dystonia
Dystonia, foot
Show more (+1)
n.a.
c.344+5G>C: het
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.