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