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