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