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