Guo, 2017: 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.
|
7
|
7
|
n.a.
|
Cerebellar atrophy
Bulbar dysfunction Motor delay Hypointensity on basal ganglia and or nigra Dysphonia Dysarthria Global developmental delay Spasticity Mri brain other abnormalities Hyperreflexia Muscular hypotonia Hypotonia Delayed speech and language development Abnormal central motor function Cognitive impairment Cerebellar signs Delayed gross motor development Pyramidal sign Gait disturbance Show more (+16) |
n.a.
|