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