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