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