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.
|
Dysarthria
Cerebellar atrophy Datscan/trodat with evidence of dopaminergic deficit NMS parkinsonism Tremor (any or unspecified) Mri brain other abnormalities Dyskinesia Cognitive impairment Dystonia, cervical Autonomic sign/sympt. Dystonia, generalized Abnormal central motor function Bradykinesia Developmental delay/intellectual disability Cerebellar signs Rigidity Psychosis Dystonia (any or unspecified) Parkinsonism Resting tremor Show more (+17) |
Bradykinesia
|
|
Yes
|
♀
|
A
|
CHN
|
30
|
39
|
n.a.
|
Rigidity
Datscan/trodat with evidence of dopaminergic deficit Abnormal central motor function Normal brain mri Dyskinesia Bradykinesia Psychosis Parkinsonism Show more (+5) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
19
|
31
|
n.a.
|
Cognitive impairment
Abnormal central motor function Resting tremor Nystagmus Dyskinesia Developmental delay/intellectual disability Tremor (any or unspecified) Bradykinesia Dystonia, cervical Autonomic sign/sympt. Mri brain other abnormalities Dystonia (any or unspecified) NMS parkinsonism Datscan/trodat with evidence of dopaminergic deficit Psychosis Parkinsonism Rigidity Dystonia, axial Dysarthria Cerebellar atrophy Cerebellar signs Show more (+18) |
Bradykinesia
|