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