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