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