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