Malaguti, 2015: 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
|
♀
|
C
|
ITA
|
27
|
30
|
n.a.
|
Spasticity
Dystonia, limb Rigidity Motor fluctuations Hypointensity on basal ganglia and or nigra Datscan/trodat with evidence of dopaminergic deficit Psychiatric disorders Postural instability Hyperreflexia Bradykinesia Dystonia (any or unspecified) Abnormal central motor function Dysarthria NMS parkinsonism Dystonia, axial Cognitive impairment Pyramidal sign Parkinsonism Dystonia, arm Dystonia, leg Show more (+17) |
n.a.
|