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