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