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