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