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