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