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