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