Blake, 2016: 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
|
♀
|
n.a.
|
n.a.
|
2
|
3
|
n.a.
|
Developmental regression
Muscular hypotonia Mri brain other abnormalities Dystonia, focal Hypotonia Gait disturbance Neuromuscular abnormality Strabismus Cognitive impairment Sleep disorder Delayed speech and language development Abnormal central motor function Spasticity Seizures Dystonia, limb NMS parkinsonism Cerebellar atrophy Optic atrophy Pyramidal sign Delayed gross motor development Global developmental delay Dystonia (any or unspecified) Motor delay Dystonia, leg Show more (+21) |
Motor delay
|