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