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