Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
8
|
28
|
n.a.
|
Psychosis
Dystonia, generalized Cognitive impairment Developmental delay/intellectual disability Rigidity Dystonia, cervical Tremor (any or unspecified) Cerebellar signs Datscan/trodat with evidence of dopaminergic deficit NMS parkinsonism Dysarthria Dystonia (any or unspecified) Abnormal central motor function Parkinsonism Mri brain other abnormalities Dyskinesia Resting tremor Autonomic sign/sympt. Bradykinesia Cerebellar atrophy Show more (+17) |
Bradykinesia
|
|
Yes
|
♀
|
A
|
CHN
|
30
|
39
|
n.a.
|
Dyskinesia
Bradykinesia Normal brain mri Abnormal central motor function Datscan/trodat with evidence of dopaminergic deficit Psychosis Rigidity Parkinsonism Show more (+5) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
19
|
31
|
n.a.
|
Dystonia, cervical
Resting tremor Bradykinesia Nystagmus Cognitive impairment Dystonia, axial Abnormal central motor function Dysarthria Psychosis Cerebellar atrophy Dyskinesia Mri brain other abnormalities Autonomic sign/sympt. Tremor (any or unspecified) Cerebellar signs Rigidity Dystonia (any or unspecified) NMS parkinsonism Datscan/trodat with evidence of dopaminergic deficit Parkinsonism Developmental delay/intellectual disability Show more (+18) |
Bradykinesia
|