Paisán-Ruiz, 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
|
♀
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Bradykinesia
Neuromuscular abnormality Cognitive impairment Gait disturbance Parkinsonism Pyramidal sign Psychiatric disorders Dysarthria Autonomic sign/sympt. Abnormal central motor function NMS parkinsonism Anarthria Spasticity Cerebellar atrophy Cerebellar signs Bulbar dysfunction Rigidity Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
GRC
|
24
|
32
|
No
|
Pyramidal sign
Dystonic posturing Mri brain other abnormalities Psychiatric disorders Psychosis Dystonia (any or unspecified) Hypomimic face Dystonia, arm Anarthria Rigidity Cognitive impairment Tremor (any or unspecified) Dystonia, limb Parkinsonism Dystonia, leg Dyskinesia NMS parkinsonism Dystonia, generalized Cerebellar atrophy Hyperreflexia Hypointensity on basal ganglia and or nigra Abnormal central motor function Decreased body weight Bradykinesia Show more (+21) |
n.a.
|