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