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