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