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