Lu, 2012: Overview of all reported DYT/PARK-PLA2G6-(NBIA) patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
A
|
CHN
|
8
|
28
|
n.a.
|
Dyskinesia
Cerebellar atrophy Mri brain other abnormalities Resting tremor Dystonia, cervical Autonomic sign/sympt. Rigidity Dystonia, generalized Psychosis Tremor (any or unspecified) Bradykinesia Cognitive impairment Dysarthria NMS parkinsonism Parkinsonism Abnormal central motor function Dystonia (any or unspecified) Datscan/trodat with evidence of dopaminergic deficit Developmental delay/intellectual disability Cerebellar signs Show more (+17) |
Bradykinesia
|
|
Yes
|
♀
|
A
|
CHN
|
30
|
39
|
n.a.
|
Parkinsonism
Dyskinesia Bradykinesia Rigidity Psychosis Abnormal central motor function Normal brain mri Datscan/trodat with evidence of dopaminergic deficit Show more (+5) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
19
|
31
|
n.a.
|
Dystonia, cervical
Datscan/trodat with evidence of dopaminergic deficit Cerebellar atrophy Abnormal central motor function Developmental delay/intellectual disability Bradykinesia Parkinsonism Mri brain other abnormalities Resting tremor Dysarthria Cerebellar signs NMS parkinsonism Dystonia (any or unspecified) Rigidity Autonomic sign/sympt. Psychosis Cognitive impairment Dyskinesia Dystonia, axial Tremor (any or unspecified) Nystagmus Show more (+18) |
Bradykinesia
|