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