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