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