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