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