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